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2024-04-19 04:23:19, 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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aattcctcaacccatagttaagctactcctctttctcctaaaaaaaaaaaaaaatgagagaattagggaaacaccaaaagcaaagagagcagctctatgttcattcatgtctggagatgagccaatttgagcaccactgtaggccaactctaaatttattcagatcgttaacatgggtaacccagcaaatatttcccagcagtgacaatctacaccctttatctaaataaatattgagatgtgcttttttcctgtgttagttcaaagaatctcttcttgcctcccattgctgattttctgtattgatggactcatttctctcaagagattggacaagctaaaattctagagagttcaaaagtgtttgaaagtacattttaagtgttctcaccacaaaaaatgctagtgtgtgaggtgatacatatgttaattagttcaactgatccattccacaatgtatacatatttcaaactatcgagttgtacatgataaatatatacaatttttatttgtcaaataaagaacatctataaatatttatagatttcaaaattgagaaagaagtatatatggagccacggttgttttgaccatttctccatgctttttgtttggggagggggacattttttggggggcagggactgtgttcagggaaagtacctgaccaacagaacttcaagtctcttccagagtgcgagactcagcttatctgatcaaggtgaacttgcccttcaatagacttgcccttgttactgcccagtgaggccaccaaggaccaagaacagttgagctctctcagggccttcccctttcaacaatttagttgaatgactcccttccatctatcagtcttactccaaatatatgaaattactatacattgaaatgcctgcaaactatatgcaaaaatgagtatgaggaaatcaaatgtaaatcatatgcaaatattattcaaccaagcttctataaaattgtacgtgtcaataacagtaaagaattttaattaattctgtcatttaaaattcatgcattccatattttgctttcagaacttatagtctatgccaattttgaaaaaactataagcacaaggaattaaatactattgagtatagaactgttgatttcaacatacactatagcactttgactaattacagatatatttgatagaaaagtcacatttctacaaggtaattttcaaaaagaaataaaacatttctgtaaactt
//
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
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