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2019-03-23 03:25:47, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_138694              16235 bp    mRNA    linear   PRI 11-MAY-2013
DEFINITION  Homo sapiens polycystic kidney and hepatic disease 1 (autosomal
            recessive) (PKHD1), transcript variant 1, mRNA.
ACCESSION   NM_138694
VERSION     NM_138694.3  GI:126131101
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 16235)
  AUTHORS   Zhang,D., Lu,L., Yang,H.B., Li,M., Sun,H., Zeng,Z.P., Li,X.P.,
            Xia,W.B. and Xing,X.P.
  TITLE     Exome sequencing identifies compound heterozygous PKHD1 mutations
            as a cause of autosomal recessive polycystic kidney disease
  JOURNAL   Chin. Med. J. 125 (14), 2482-2486 (2012)
   PUBMED   22882926
  REMARK    GeneRIF: Data identified that the compound heterozygous PKHD1 gene
            mutations are the molecular basis of the patient with ARPKD.
REFERENCE   2  (bases 1 to 16235)
  AUTHORS   Gunay-Aygun,M., Turkbey,B.I., Bryant,J., Daryanani,K.T.,
            Gerstein,M.T., Piwnica-Worms,K., Choyke,P., Heller,T. and Gahl,W.A.
  TITLE     Hepatorenal findings in obligate heterozygotes for autosomal
            recessive polycystic kidney disease
  JOURNAL   Mol. Genet. Metab. 104 (4), 677-681 (2011)
   PUBMED   21945273
  REMARK    GeneRIF: Our data suggest that carrier status for PKHD1 mutations
            in autosomal recessive polycystic kidney disease is a
            predisposition to polycystic liver disease and renal involvement
REFERENCE   3  (bases 1 to 16235)
  AUTHORS   Sun,L., Wang,S., Hu,C. and Zhang,X.
  TITLE     Down-regulation of PKHD1 induces cell apoptosis through PI3K and
            NF-kappaB pathways
  JOURNAL   Exp. Cell Res. 317 (7), 932-940 (2011)
   PUBMED   21300060
  REMARK    GeneRIF: Data suggest that the PI3K/Akt pathway is involved in
            apoptotic function in PKHD1-silenced cells, and PI3K/Akt inhibition
            correlates with upregulation of NF-kappaB activity.
REFERENCE   4  (bases 1 to 16235)
  AUTHORS   Ward,C.J., Wu,Y., Johnson,R.A., Woollard,J.R., Bergstralh,E.J.,
            Cicek,M.S., Bakeberg,J., Rossetti,S., Heyer,C.M., Petersen,G.M.,
            Lindor,N.M., Thibodeau,S.N., Harris,P.C., Torres,V.E., Hogan,M.C.
            and Boardman,L.A.
  TITLE     Germline PKHD1 mutations are protective against colorectal cancer
  JOURNAL   Hum. Genet. 129 (3), 345-349 (2011)
   PUBMED   21274727
  REMARK    GeneRIF: Screening for the most common PKHD1 mutation (T36M) in a
            European cohort indicated that heterozygous PKHD1 mutations are not
            a risk factor but rather are protective for colorectal cancer.
REFERENCE   5  (bases 1 to 16235)
  AUTHORS   Zvereff,V., Yao,S., Ramsey,J., Mikhail,F.M., Vijzelaar,R. and
            Messiaen,L.
  TITLE     Identification of PKHD1 multiexon deletions using multiplex
            ligation-dependent probe amplification and quantitative polymerase
            chain reaction
  JOURNAL   Genet Test Mol Biomarkers 14 (4), 505-510 (2010)
   PUBMED   20575693
  REMARK    GeneRIF: Multiplex ligation-dependent probe amplification is a
            sensitive and rapid method to identify PKHD1 deletions.
REFERENCE   6  (bases 1 to 16235)
  AUTHORS   Xiong,H., Chen,Y., Yi,Y., Tsuchiya,K., Moeckel,G., Cheung,J.,
            Liang,D., Tham,K., Xu,X., Chen,X.Z., Pei,Y., Zhao,Z.J. and Wu,G.
  TITLE     A novel gene encoding a TIG multiple domain protein is a positional
            candidate for autosomal recessive polycystic kidney disease
  JOURNAL   Genomics 80 (1), 96-104 (2002)
   PUBMED   12079288
  REMARK    GeneRIF: Map position is consistent with putative association with
            autosomal recessive polycystic kidney
REFERENCE   7  (bases 1 to 16235)
  AUTHORS   Onuchic,L.F., Furu,L., Nagasawa,Y., Hou,X., Eggermann,T., Ren,Z.,
            Bergmann,C., Senderek,J., Esquivel,E., Zeltner,R.,
            Rudnik-Schoneborn,S., Mrug,M., Sweeney,W., Avner,E.D., Zerres,K.,
            Guay-Woodford,L.M., Somlo,S. and Germino,G.G.
  TITLE     PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a
            novel large protein containing multiple immunoglobulin-like
            plexin-transcription-factor domains and parallel beta-helix 1
            repeats
  JOURNAL   Am. J. Hum. Genet. 70 (5), 1305-1317 (2002)
   PUBMED   11898128
  REMARK    GeneRIF: PKHD1, the polycystic kidney and hepatic disease 1 gene,
            encodes a novel large protein containing multiple
            immunoglobulin-like plexin-transcription-factor domains and
            parallel beta-helix 1 repeats.
REFERENCE   8  (bases 1 to 16235)
  AUTHORS   Ward,C.J., Hogan,M.C., Rossetti,S., Walker,D., Sneddon,T., Wang,X.,
            Kubly,V., Cunningham,J.M., Bacallao,R., Ishibashi,M.,
            Milliner,D.S., Torres,V.E. and Harris,P.C.
  TITLE     The gene mutated in autosomal recessive polycystic kidney disease
            encodes a large, receptor-like protein
  JOURNAL   Nat. Genet. 30 (3), 259-269 (2002)
   PUBMED   11919560
  REMARK    GeneRIF: characterization of mutation in autosomal recessive
            polycystic kidney disease
REFERENCE   9  (bases 1 to 16235)
  AUTHORS   Mucher,G., Becker,J., Knapp,M., Buttner,R., Moser,M.,
            Rudnik-Schoneborn,S., Somlo,S., Germino,G., Onuchic,L., Avner,E.,
            Guay-Woodford,L. and Zerres,K.
  TITLE     Fine mapping of the autosomal recessive polycystic kidney disease
            locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at
            6p21.1-p12
  JOURNAL   Genomics 48 (1), 40-45 (1998)
   PUBMED   9503014
REFERENCE   10 (bases 1 to 16235)
  AUTHORS   Zerres,K., Mucher,G., Bachner,L., Deschennes,G., Eggermann,T.,
            Kaariainen,H., Knapp,M., Lennert,T., Misselwitz,J., von
            Muhlendahl,K.E. et al.
  TITLE     Mapping of the gene for autosomal recessive polycystic kidney
            disease (ARPKD) to chromosome 6p21-cen
  JOURNAL   Nat. Genet. 7 (3), 429-432 (1994)
   PUBMED   7920664
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY074797.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Feb 23, 2007 this sequence version replaced gi:25777664.
            
            Summary: The protein encoded by this gene is predicted to have a
            single transmembrane (TM)-spanning domain and multiple copies of an
            immunoglobulin-like plexin-transcription-factor domain. Alternative
            splicing results in two transcript variants encoding different
            isoforms. Other alternatively spliced transcripts have been
            described, but the full length sequences have not been determined.
            Several of these transcripts are predicted to encode truncated
            products which lack the TM and may be secreted. Mutations in this
            gene cause autosomal recessive polycystic kidney disease, also
            known as polycystic kidney and hepatic disease-1. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform of
            this protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY074797.1, AF480064.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025084, ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16235             AY074797.1         1-16235
FEATURES             Location/Qualifiers
     source          1..16235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.2"
     gene            1..16235
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="polycystic kidney and hepatic disease 1 (autosomal
                     recessive)"
                     /db_xref="GeneID:5314"
                     /db_xref="HGNC:9016"
                     /db_xref="MIM:606702"
     exon            1..192
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            193..328
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    265..267
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="upstream in-frame stop codon"
     CDS             277..12501
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; TIG multiple domains 1; polyductin; tigmin;
                     fibrocystin; polycystic kidney and hepatic disease 1
                     protein"
                     /codon_start=1
                     /product="fibrocystin isoform 1 precursor"
                     /protein_id="NP_619639.3"
                     /db_xref="GI:126131102"
                     /db_xref="CCDS:CCDS4935.1"
                     /db_xref="GeneID:5314"
                     /db_xref="HGNC:9016"
                     /db_xref="MIM:606702"
                     /translation="
MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADAIWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMDNLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHEMPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISKVIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKGVIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPPSEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFTARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQTNNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIVREEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLLCPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL
"
     sig_peptide     277..327
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    1054..>1221
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     Region: IPT_PCSR; cd00603"
                     /db_xref="CDD:28988"
     misc_feature    <3115..3273
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT/TIG domain; Region: TIG; pfam01833"
                     /db_xref="CDD:201999"
     misc_feature    3331..3585
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     Region: IPT_PCSR; cd00603"
                     /db_xref="CDD:28988"
     misc_feature    3598..3831
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT/TIG domain; Region: TIG; pfam01833"
                     /db_xref="CDD:201999"
     misc_feature    3865..4158
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="Immunoglobulin-like fold, Plexins, Transcription
                     factors (IPT). IPTs are also known as Transcription factor
                     ImmunoGlobin (TIG) domains. They are present in
                     intracellular transcription factors, cell surface
                     receptors (such as plexins and scatter factor...; Region:
                     IPT; cl15674"
                     /db_xref="CDD:210144"
     misc_feature    4441..4722
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     Region: IPT_PCSR; cd00603"
                     /db_xref="CDD:28988"
     misc_feature    4732..4983
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT/TIG domain; Region: TIG; pfam01833"
                     /db_xref="CDD:201999"
     misc_feature    4993..>5196
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="IPT domain of Plexins and Cell Surface Receptors
                     (PCSR) and related proteins . This subgroup contains IPT
                     domains of plexins, receptors, like the
                     plasminogen-related growth factor receptors, the
                     hepatocyte growth factor-scatter factors, and the...;
                     Region: IPT_PCSR; cd00603"
                     /db_xref="CDD:28988"
     misc_feature    6070..6435
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="G8 domain; Region: G8; pfam10162"
                     /db_xref="CDD:192465"
     misc_feature    6952..7020
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 1"
     misc_feature    6967..7599
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="Right handed beta helix region; Region: Beta_helix;
                     pfam13229"
                     /db_xref="CDD:205410"
     misc_feature    7021..7089
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 2"
     misc_feature    7150..7251
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 3"
     misc_feature    7252..7317
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 4"
     misc_feature    7501..7569
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 5"
     misc_feature    7681..7782
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 6"
     misc_feature    8521..8895
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="G8 domain; Region: G8; pfam10162"
                     /db_xref="CDD:192465"
     misc_feature    9280..9807
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /note="Right handed beta helix region; Region: Beta_helix;
                     pfam13229"
                     /db_xref="CDD:205410"
     misc_feature    9304..9372
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 7"
     misc_feature    9373..9441
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 8"
     misc_feature    9532..9600
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     Region: PbH1 9"
     misc_feature    11851..11913
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P08F94.1);
                     transmembrane region"
     exon            329..406
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            407..557
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            558..666
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            667..724
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            725..803
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            804..878
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            879..943
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            944..983
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            984..1054
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1055..1156
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1157..1252
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1253..1394
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1395..1509
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1510..1788
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1789..1878
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1879..1969
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            1970..2112
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2113..2240
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2241..2416
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2417..2555
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2556..2683
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2684..2868
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2869..2991
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            2992..3097
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            3098..3373
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            3374..3504
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            3505..3640
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            3641..3836
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            3837..3904
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            3905..5512
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     variation       3962
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2499481"
     variation       4152
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2499482"
     exon            5513..5656
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            5657..5876
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            5877..6027
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     variation       5884
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2435322"
     exon            6028..6184
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            6185..6397
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            6398..6608
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            6609..6766
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            6767..6958
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            6959..7084
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     variation       7010
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:970881"
     exon            7085..7141
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            7142..7272
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            7273..7385
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            7386..7491
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            7492..7626
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            7627..7762
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            7763..8009
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8010..8187
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8188..8383
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8384..8449
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8450..8578
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8579..8716
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8717..8830
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8831..8918
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            8919..9073
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            9074..9226
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            9227..10105
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     variation       9430
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:765526"
     variation       9513
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:765525"
     variation       9570
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200152276"
     exon            10106..10274
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            10275..10432
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            10433..11450
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            11451..11586
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            11587..11674
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            11675..11782
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            11783..11941
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            11942..12061
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     exon            12062..16235
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    16214..16219
                     /gene="PKHD1"
                     /gene_synonym="ARPKD; FCYT; TIGM1"
ORIGIN      
acatttggctgggacacaaacgagttaggtgagttatagtctaacgtgagtgagttacctgcgtggtggctgcaggctgagctctaaccagataacatgtccacggattcttgacagagagaaataagatcacttagaaagaaaggatcatttctcccttgagtcacaaggagacagaaacagaaaaaaaagcacaaaagctatgctgctccaatcaaaactgaaaatgcttttaatgtctgagcaatcttaagagtattgatttaagtggacagaatgactgcctggctgatctctctgatgagtattgaagtactacttttggcagtacgtcacctgagtttacatattgaacctgaagaaggtagccttgcagggggaacgtggatcacagtcatttttgatggtttggagttgggtgttctttaccccaacaatggctctcaattggagatacacctggtgaacgtgaacatggtggtgcccgcactgcggagtgttccctgtgacgtctttcctgttttcttggatttgcctgtggtgacatgccggaccagatctgtgctgtctgaagcacatgagggtctgtacttcctggaagcatacttcgggggacagctggtaagcagtccaaatccaggaccacgagatagctgtactttcaagttttccaaggcgcagacacccatcgttcaccaagtttatccaccaagtggtgttccaggaaaactaatacatgtatatggctggattatcactggaagattggaaacttttgattttgatgctgagtacattgatagcccagtgatcttggaagctcaaggagacaaatgggttactccttgctctcttataaataggcagatgggaagctgttatcctattcaggaggaccatggtcttgggactctgcagtgccatgtggaaggcgactacatcggctcccagaatgttagcttctcagtatttaacaaaggaaagtcaatggtccacaagaaggcatggctgatcagtgctaaacaggatcttttcctataccagacacactcagaaatattatctgtgtttccagaaactgggagccttgggggaagaacaaacatcacaattacaggagacttttttgacaattctgcccaggttaccattgcaggcattccatgtgatattagacacgtgtctcccaggaagattgagtgcaccactcgggctccaggaaaagatgtgaggctcaccacccctcagccaggcaatcgagggcttctttttgaagttggagatgctgttgagggactggaactgactgaagccaccccagggtacaggtggcagattgtccctaatgccagttctccatttgggttttggtcacaggaaggacaacctttcagagcacggctcagtgggttctttgtggctccagagacaaataattacactttctggattcaggcagatagccaagcttccttgcatttcagttggtcagaggaaccaaggactaaggtgaaagtggcctccatcagcgtcggcactgctgactggtttgactcctgggagcagaatagggatgaagggacctggcagcagaagactcccaagttggagctgttgggtggagccatgtactacctggaagcagagcatcatgggatagccccaagcagggggatgaggattggtgtccagattcacaacacctggctgaatcctgatgtggtcaccacttacctacgggagaagcaccagatccgagtccgagcccagaggcttccagaagtacaggtgctgaatgtatcaggcagaggaaacttcttccttacttgggacaatgtctctagtcagccaatccctgcaaatgccacagcccatctgattcaaacaaccattgaggagttacttgcagtaaaatgcaaactggaacccctttggtctaacatccttctccggcttggatttgaacgaggcccagaagtttccaactctgatggggacctcaccagtgggacggagcccttctgtggcaggttcagcctccgtcagcctcgacaccttgtccttactcccccggctgcccagaagggctatcggctagatcagtatacacacctgtgtcttgcatacaaaggccacatgaacaagatcctgaagatgattgtgtccttcacaatcggctttcaaaacatggtaaagaataccacctgtgactggagtctcacgaggaccagccccgagagctggcagttcgattgcactgacctctgggagacttgtgtgcgttgcttcggggatctccagccccctccggcaaactccccagtgctggttcatcagatcaaccttctccctctggcccaggagacgggcctgttctatgtggatgaaattattattgcagacacaaacgtaacagtttctcaagctgattctggaacggctcgcccagggggcaatctggtggaatcagtctctgtggtgggatcccctccggtctacagtgtcacctcctggctggcggggtgtggcacggagctcccgctcatcactgcacgctctgtgcccactgaaggaacagaagagggatctggactggtcctggtgacgacacagagacgacagcggacaagtccacctctaggaggacactttcgcatccagcttcctaatacagtgatttctgatgtccctgtacaaatttctgctcatcaccttcaccagctcttacagaataatgccgatgacttcacatccaggtacctcaatgccagtgacttcactgtgaaggaggatctatacacttgctacgaacacgtgtggaccttgtcctggtccactcagattggggatttgcccaattttatcagggtctctgatgaaaaccttactggagtgaatcctgctgcagccacgcgtgtggtatatgatggtggagtttttcttggacccatatttggagacatgttggctactgccaaccagcatactcaggtggttgtgcgagtgaatgatgtaccagctcattgcccaggttcctgctctttccagtacctccaagggtcaactccctgtgtccattctgtgtggtactccattgatggtgacatcaacctaatgatttacattaccggaactggtttctctggtgactcccagttcttgcaggttacagtgaacaaaacgagttgcaaagttattttctcaaaccagaccaatgtagtctgtcagacagatttgctacctgttggaatgcatcggatcttgatgttggtgagaccctctggtcttgccatcagtgccactggagaagacctcttcctaaatgtgaaacctagactggatatggtggagccttccagagctgcggatattggagggctctgggccaccatccgaggctctagtttggaaggtgttagcctgatattatttggatcttactcgtgtgccatcaatgtcgctacaagcaattcaagcagaattcagtgcaaagttccacccagggggaaagatggacgcattgtgaatgtgactgtgatcagaggggactattctgcagttcttcccagagcatttacatatgtctcttccttaaatccagttattgtgactctgagcagaaacataagcaatatagcaggcggtgagaccctggtcattggagtggcgaggctgatgaactatacggatttggatgtggaagtccacgtccaggatgccttggctccggttcacacacagtcggcttggggcctggaggtggcactgcccccactgccagctggtctccacagaatttccgtctctatcaatggggtcagcattcactcacaaggggttgatctccacatccagtacctcacagaagttttcagcatcgagccttgctgtgggtccctgctgggagggaccatcctcagcatctcaggaataggcttcagcagggacccagctttggtttgggtacttgtgggcaatcggtcctgtgacattgtgaacttaacggaggcgagcatctggtgtgaaaccctgccagccccccagatacccgatgcgggcgctcccactgttccagctgccgtggaggtctgggctggcaacaggttcttcgcccgtggtccttcaccaagcttggtggggaaaggcttcaccttcatgtatgaagcggcagcaacaccagtagtcactgccatgcaaggagaaatcacaaatagcagcctgagcctgcatgtgggaggaagtaacctctccaactcagtcatccttctggggaacctgaactgtgatgttgagacacagtccttccagggcaacgtgagcctgtctggatgctccatccctcttcacagtctggaggctggcatctatcctctccaagtacgtcagaagcagatgggatttgctaatatgtctgtggtgctccagcaatttgcagtgatgcctcggataatggccatcttcccatcgcagggttcggcatgtggtgggaccatacttactgtgagggggttgcttcttaactctagaaggaggtcagttcgggttgacctctcgggtccttttacttgtgtgattttgagtttgggagaccacaccattctctgccaggttagcctggagggtgaccccttgcctggagcttccttctccctgaacgtcacagtcctggtcaatgggctaaccagcgagtgtcaggggaattgcactcttttcataagggaagaggcaagtcctgtcatggatgccttgtccacaaacaccagtgggtctctgaccactgtgctgattaggggtcagaggttagccaccacagctgatgagccgatggtatttgtggatgatcaacttccttgcaatgtaactttttttaatgcaagccacgttgtgtgccagacaagagacttggccccaggaccccactacctgtcagttttttatacaagaaatgggtatgcttgttctggtaatgtttccagacacttctacattatgccccaagt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//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5314 -> Molecular function: GO:0004872 [receptor activity] evidence: NAS
            GeneID:5314 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5314 -> Biological process: GO:0001822 [kidney development] evidence: ISS
            GeneID:5314 -> Biological process: GO:0010824 [regulation of centrosome duplication] evidence: IMP
            GeneID:5314 -> Biological process: GO:0016337 [cell-cell adhesion] evidence: ISS
            GeneID:5314 -> Biological process: GO:0042384 [cilium assembly] evidence: ISS
            GeneID:5314 -> Biological process: GO:0042592 [homeostatic process] evidence: NAS
            GeneID:5314 -> Biological process: GO:0051271 [negative regulation of cellular component movement] evidence: ISS
            GeneID:5314 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
            GeneID:5314 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
            GeneID:5314 -> Cellular component: GO:0005932 [microtubule basal body] evidence: IDA
            GeneID:5314 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:5314 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IDA
            GeneID:5314 -> Cellular component: GO:0031362 [anchored to external side of plasma membrane] evidence: TAS
            GeneID:5314 -> Cellular component: GO:0072372 [primary cilium] evidence: IDA
            GeneID:5314 -> Cellular component: GO:0072686 [mitotic spindle] evidence: IDA

by @meso_cacase at DBCLS
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