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2024-04-20 01:15:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003829 7625 bp mRNA linear PRI 17-JUN-2013
DEFINITION Homo sapiens multiple PDZ domain protein (MPDZ), transcript variant
1, mRNA.
ACCESSION NM_003829
VERSION NM_003829.4 GI:387157890
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 7625)
AUTHORS Lu,Y., Vitart,V., Burdon,K.P., Khor,C.C., Bykhovskaya,Y.,
Mirshahi,A., Hewitt,A.W., Koehn,D., Hysi,P.G., Ramdas,W.D.,
Zeller,T., Vithana,E.N., Cornes,B.K., Tay,W.T., Tai,E.S.,
Cheng,C.Y., Liu,J., Foo,J.N., Saw,S.M., Thorleifsson,G.,
Stefansson,K., Dimasi,D.P., Mills,R.A., Mountain,J., Ang,W.,
Hoehn,R., Verhoeven,V.J., Grus,F., Wolfs,R., Castagne,R.,
Lackner,K.J., Springelkamp,H., Yang,J., Jonasson,F., Leung,D.Y.,
Chen,L.J., Tham,C.C., Rudan,I., Vatavuk,Z., Hayward,C., Gibson,J.,
Cree,A.J., MacLeod,A., Ennis,S., Polasek,O., Campbell,H.,
Wilson,J.F., Viswanathan,A.C., Fleck,B., Li,X., Siscovick,D.,
Taylor,K.D., Rotter,J.I., Yazar,S., Ulmer,M., Li,J., Yaspan,B.L.,
Ozel,A.B., Richards,J.E., Moroi,S.E., Haines,J.L., Kang,J.H.,
Pasquale,L.R., Allingham,R.R., Ashley-Koch,A., Mitchell,P.,
Wang,J.J., Wright,A.F., Pennell,C., Spector,T.D., Young,T.L.,
Klaver,C.C., Martin,N.G., Montgomery,G.W., Anderson,M.G., Aung,T.,
Willoughby,C.E., Wiggs,J.L., Pang,C.P., Thorsteinsdottir,U.,
Lotery,A.J., Hammond,C.J., van Duijn,C.M., Hauser,M.A.,
Rabinowitz,Y.S., Pfeiffer,N., Mackey,D.A., Craig,J.E., Macgregor,S.
and Wong,T.Y.
CONSRTM NEIGHBOR Consortium
TITLE Genome-wide association analyses identify multiple loci associated
with central corneal thickness and keratoconus
JOURNAL Nat. Genet. 45 (2), 155-163 (2013)
PUBMED 23291589
REFERENCE 2 (bases 1 to 7625)
AUTHORS Al-Dosari,M.S., Al-Owain,M., Tulbah,M., Kurdi,W., Adly,N.,
Al-Hemidan,A., Masoodi,T.A., Albash,B. and Alkuraya,F.S.
TITLE Mutation in MPDZ causes severe congenital hydrocephalus
JOURNAL J. Med. Genet. 50 (1), 54-58 (2013)
PUBMED 23240096
REMARK GeneRIF: Our data strongly support the candidacy of MPDZ as a novel
congenital hydrocephalus disease gene.
REFERENCE 3 (bases 1 to 7625)
AUTHORS Karpyak,V.M., Geske,J.R., Colby,C.L., Mrazek,D.A. and
Biernacka,J.M.
TITLE Genetic variability in the NMDA-dependent AMPA trafficking cascade
is associated with alcohol dependence
JOURNAL Addict Biol 17 (4), 798-806 (2012)
PUBMED 21762291
REMARK GeneRIF: The data indicates potential association between variation
in mpdz NMDA dependent AMPA trafficking and alcohol dependence.
REFERENCE 4 (bases 1 to 7625)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 5 (bases 1 to 7625)
AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium
TITLE Gene-centric association signals for lipids and apolipoproteins
identified via the HumanCVD BeadChip
JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009)
PUBMED 19913121
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 7625)
AUTHORS Becamel,C., Figge,A., Poliak,S., Dumuis,A., Peles,E., Bockaert,J.,
Lubbert,H. and Ullmer,C.
TITLE Interaction of serotonin 5-hydroxytryptamine type 2C receptors with
PDZ10 of the multi-PDZ domain protein MUPP1
JOURNAL J. Biol. Chem. 276 (16), 12974-12982 (2001)
PUBMED 11150294
REFERENCE 7 (bases 1 to 7625)
AUTHORS Lee,S.S., Glaunsinger,B., Mantovani,F., Banks,L. and Javier,R.T.
TITLE Multi-PDZ domain protein MUPP1 is a cellular target for both
adenovirus E4-ORF1 and high-risk papillomavirus type 18 E6
oncoproteins
JOURNAL J. Virol. 74 (20), 9680-9693 (2000)
PUBMED 11000240
REFERENCE 8 (bases 1 to 7625)
AUTHORS Mancini,A., Koch,A., Stefan,M., Niemann,H. and Tamura,T.
TITLE The direct association of the multiple PDZ domain containing
proteins (MUPP-1) with the human c-Kit C-terminus is regulated by
tyrosine kinase activity
JOURNAL FEBS Lett. 482 (1-2), 54-58 (2000)
PUBMED 11018522
REFERENCE 9 (bases 1 to 7625)
AUTHORS Barritt,D.S., Pearn,M.T., Zisch,A.H., Lee,S.S., Javier,R.T.,
Pasquale,E.B. and Stallcup,W.B.
TITLE The multi-PDZ domain protein MUPP1 is a cytoplasmic ligand for the
membrane-spanning proteoglycan NG2
JOURNAL J. Cell. Biochem. 79 (2), 213-224 (2000)
PUBMED 10967549
REFERENCE 10 (bases 1 to 7625)
AUTHORS Ullmer,C., Schmuck,K., Figge,A. and Lubbert,H.
TITLE Cloning and characterization of MUPP1, a novel PDZ domain protein
JOURNAL FEBS Lett. 424 (1-2), 63-68 (1998)
PUBMED 9537516
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL162386.17, AB210041.1, CX782625.1 and BU621500.1.
On May 11, 2012 this sequence version replaced gi:148746188.
Transcript Variant: This variant (1) represents the longest
transcript and encodes the longest isoform (1).
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 :: AB210041.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-26 AL162386.17 49786-49811 c
27-6713 AB210041.1 28-6714
6714-6878 CX782625.1 562-726
6879-7625 BU621500.1 1-747 c
FEATURES Location/Qualifiers
source 1..7625
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p23"
gene 1..7625
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="multiple PDZ domain protein"
/db_xref="GeneID:8777"
/db_xref="HGNC:7208"
/db_xref="MIM:603785"
exon 1..165
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 166..238
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
misc_feature 208..210
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="upstream in-frame stop codon"
CDS 223..6348
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="isoform 1 is encoded by transcript variant 1;
multi-PDZ domain protein 1"
/codon_start=1
/product="multiple PDZ domain protein isoform 1"
/protein_id="NP_003820.2"
/db_xref="GI:148746189"
/db_xref="CCDS:CCDS47951.1"
/db_xref="GeneID:8777"
/db_xref="HGNC:7208"
/db_xref="MIM:603785"
/translation="
MLEAIDKNRALHAAERLQTKLRERGDVANEDKLSLLKSVLQSPLFSQILSLQTSVQQLKDQVNIATSATSNIEYAHVPHLSPAVIPTLQNESFLLSPNNGNLEALTGPGIPHINGKPACDEFDQLIKNMAQGRHVEVFELLKPPSGGLGFSVVGLRSENRGELGIFVQEIQEGSVAHRDGRLKETDQILAINGQALDQTITHQQAISILQKAKDTVQLVIARGSLPQLVSPIVSRSPSAASTISAHSNPVHWQHMETIELVNDGSGLGFGIIGGKATGVIVKTILPGGVADQHGRLCSGDHILKIGDTDLAGMSSEQVAQVLRQCGNRVKLMIARGAIEERTAPTALGITLSSSPTSTPELRVDASTQKGEESETFDVELTKNVQGLGITIAGYIGDKKLEPSGIFVKSITKSSAVEHDGRIQIGDQIIAVDGTNLQGFTNQQAVEVLRHTGQTVLLTLMRRGMKQEAELMSREDVTKDADLSPVNASIIKENYEKDEDFLSSTRNTNILPTEEEGYPLLSAEIEEIEDAQKQEAALLTKWQRIMGINYEIVVAHVSKFSENSGLGISLEATVGHHFIRSVLPEGPVGHSGKLFSGDELLEVNGITLLGENHQDVVNILKELPIEVTMVCCRRTVPPTTQSELDSLDLCDIELTEKPHVDLGEFIGSSETEDPVLAMTDAGQSTEEVQAPLAMWEAGIQHIELEKGSKGLGFSILDYQDPIDPASTVIIIRSLVPGGIAEKDGRLLPGDRLMFVNDVNLENSSLEEAVEALKGAPSGTVRIGVAKPLPLSPEEGYVSAKEDSFLYPPHSCEEAGLADKPLFRADLALVGTNDADLVDESTFESPYSPENDSIYSTQASILSLHGSSCGDGLNYGSSLPSSPPKDVIENSCDPVLDLHMSLEELYTQNLLQRQDENTPSVDISMGPASGFTINDYTPANAIEQQYECENTIVWTESHLPSEVISSAELPSVLPDSAGKGSEYLLEQSSLACNAECVMLQNVSKESFERTINIAKGNSSLGMTVSANKDGLGMIVRSIIHGGAISRDGRIAIGDCILSINEESTISVTNAQARAMLRRHSLIGPDIKITYVPAEHLEEFKISLGQQSGRVMALDIFSSYTGRDIPELPEREEGEGEESELQNTAYSNWNQPRRVELWREPSKSLGISIVGGRGMGSRLSNGEVMRGIFIKHVLEDSPAGKNGTLKPGDRIVEVDGMDLRDASHEQAVEAIRKAGNPVVFMVQSIINRPRKSPLPSLLHNLYPKYNFSSTNPFADSLQINADKAPSQSESEPEKAPLCSVPPPPPSAFAEMGSDHTQSSASKISQDVDKEDEFGYSWKNIRERYGTLTGELHMIELEKGHSGLGLSLAGNKDRSRMSVFIVGIDPNGAAGKDGRLQIADELLEINGQILYGRSHQNASSIIKCAPSKVKIIFIRNKDAVNQMAVCPGNAVEPLPSNSENLQNKETEPTVTTSDAAVDLSSFKNVQHLELPKDQGGLGIAISEEDTLSGVIIKSLTEHGVAATDGRLKVGDQILAVDDEIVVGYPIEKFISLLKTAKMTVKLTIHAENPDSQAVPSAAGAASGEKKNSSQSLMVPQSGSPEPESIRNTSRSSTPAIFASDPATCPIIPGCETTIEISKGRTGLGLSIVGGSDTLLGAIIIHEVYEEGAACKDGRLWAGDQILEVNGIDLRKATHDEAINVLRQTPQRVRLTLYRDEAPYKEEEVCDTLTIELQKKPGKGLGLSIVGKRNDTGVFVSDIVKGGIADADGRLMQGDQILMVNGEDVRNATQEAVAALLKVSEGSLSSFTFPLSGSSTSESLESSSKKNALASEIQGLRTVEMKKGPTDSLGISIAGGVGSPLGDVPIFIAMMHPTGVAAQTQKLRVGDRIVTICGTSTEGMTHTQAVNLLKNASGSIEMQVVAGGDVSVVTGHQQEPASSSLSFTGLTSSSIFQDDLGPPQCKSITLERGPDGLGFSIVGGYGSPHGDLPIYVKTVFAKGAASEDGRLKRGDQIIAVNGQSLEGVTHEEAVAILKRTKGTVTLMVLS
"
misc_feature 238..411
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="L27_2; Region: L27_2; pfam09045"
/db_xref="CDD:117611"
misc_feature 637..885
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(661..672,676..678,835..840,847..852)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 910..912
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O75970.2); phosphorylation site"
misc_feature <1057..1224
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature 1345..1599
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(1378..1389,1393..1395,1552..1557,1564..1569)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 1669..1671
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O75970.2); phosphorylation site"
misc_feature 1669..1671
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1900..2109
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(1912..1923,1927..1929,2065..2070,2077..2082)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 2314..2574
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(2347..2358,2362..2364,2521..2526,2533..2538)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 3238..3450
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(3271..3282,3286..3288,3430..3435,3442..3447)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 3667..3942
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(3703..3714,3718..3720,3892..3897,3904..3909)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 4264..4506
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(4297..4308,4312..4314,4462..4467,4474..4479)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 4663..4902
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(4696..4707,4711..4713,4855..4860,4867..4872)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 5101..5346
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(5134..5145,5149..5151,5299..5304,5311..5316)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 5395..5622
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(5425..5436,5440..5442,5584..5589,5596..5601)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 5713..5970
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(5749..5760,5764..5766,5920..5925,5932..5937)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
misc_feature 6091..6342
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="PDZ domain found in a variety of Eumetazoan
signaling molecules, often in tandem arrangements. May be
responsible for specific protein-protein interactions, as
most PDZ domains bind C-terminal polypeptides, and binding
to internal (non-C-terminal)...; Region: PDZ_signaling;
cd00992"
/db_xref="CDD:29049"
misc_feature order(6121..6132,6136..6138,6292..6297,6304..6309)
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/note="protein binding site [polypeptide binding]; other
site"
/db_xref="CDD:29049"
exon 239..405
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 406..615
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 616..755
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 756..969
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
variation 783
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:35440352"
variation 885
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:35476999"
exon 970..1098
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 1099..1308
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
variation 1263
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="c"
/replace="g"
/db_xref="dbSNP:34911705"
exon 1309..1423
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 1424..1512
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 1513..1696
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 1697..1768
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 1769..1878
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 1879..2025
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 2026..2190
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 2191..2376
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 2377..2586
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 2587..2703
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 2704..2871
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
variation 2802
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34704118"
variation 2824
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34776397"
exon 2872..3153
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
variation 3063
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34967070"
exon 3154..3277
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 3278..3476
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 3477..3581
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 3582..3674
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 3675..3852
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 3853..3963
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 3964..4062
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4063..4225
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4226..4422
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4423..4514
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4515..4605
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4606..4686
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4687..4779
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4780..4854
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 4855..5029
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5030..5175
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5176..5259
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5260..5453
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5454..5601
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5602..5692
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5693..5736
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5737..5859
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
variation 5858
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34605667"
exon 5860..5964
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 5965..6077
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
exon 6078..6201
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
STS 6082..6185
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="A005N27"
/db_xref="UniSTS:32899"
STS 6082..6185
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="G20352"
/db_xref="UniSTS:32898"
exon 6202..7609
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/inference="alignment:Splign:1.39.8"
variation 6224
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1802495"
STS 6263..6908
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="MPDZ_8854"
/db_xref="UniSTS:467777"
STS 6498..6803
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="SHGC-132458"
/db_xref="UniSTS:173909"
STS 6618..6805
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="D9S1039E"
/db_xref="UniSTS:54294"
STS 6681..6805
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="SHGC-32204"
/db_xref="UniSTS:54293"
variation 6688
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1057999"
variation 6977
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="c"
/replace="t"
/db_xref="dbSNP:722651"
variation 7057
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3198580"
STS 7223..7410
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="RH93917"
/db_xref="UniSTS:86607"
STS 7390..7566
/gene="MPDZ"
/gene_synonym="HYC2; MUPP1"
/standard_name="RH47575"
/db_xref="UniSTS:38359"
ORIGIN
cgtgagtgtctgtgcgttttgatccgaagctcctcgccgggtcgttacttcagaagagaagacagtgagcgtgggcgaggcgaggcatccagaggccccggcgacccctgctccccagtcctccgccccctcgcgtcgcggccctgggcgggcgccgcgagccggagttccattttaattgctgttaatcatttcagagaagaacactgaactttgaaaaaaatgttggaagccattgacaaaaatcgggccctgcatgcagcagagcgcttgcaaaccaagctgcgagaacgtggggatgtagcaaatgaagacaaactgagccttctgaagtcagtcctgcagagccctctcttcagtcagattctgagccttcagacttctgtacagcagctgaaagaccaggtaaatattgcaacttcagcaacttcaaatattgaatatgcccacgttcctcatctcagcccagctgtgattcctactctgcaaaatgaatcgtttttattatccccaaacaatgggaatctggaagcacttacaggacctggtattccacacattaatgggaaacctgcttgtgatgaatttgatcagcttatcaaaaatatggcccagggtcgccatgtagaagtttttgagctcctcaaacctccatctggaggccttgggtttagtgttgtgggactaagaagtgaaaacagaggagagctgggaatatttgttcaagagatacaagagggcagtgtggcccatagagatggaagattgaaagaaactgatcaaattcttgctatcaatggacaggctcttgatcagacaattacacatcagcaggctatcagcatcctgcagaaagccaaagatactgtccagctagttattgccagaggctcattgcctcagcttgtcagccccatagtttcccgttctccatctgcagccagcacaatttcagctcactctaatccggttcactggcaacacatggaaacgattgaattggtgaatgatggatctggtttgggatttggcatcataggaggaaaagcaactggtgtgatagtaaaaaccattctgcctggaggagtagctgatcagcatgggcgtttatgcagtggagaccacattctaaagattggtgacacagatctagcaggaatgagcagtgagcaagtagcacaagtccttaggcaatgtggaaatagagttaagttgatgattgcaagaggtgccatagaagaacgtacagcacccactgctttgggcatcaccctctcctcatccccaacttcaacaccagagttgcgggttgatgcttctactcagaaaggtgaagaaagtgagacatttgatgtagaactcactaaaaatgtccaaggattaggaattaccattgctggctacattggagataaaaaattggaaccttcaggaatctttgtaaagagcattacaaaaagcagtgccgttgagcatgatggaagaatccaaattggagaccaaattatagcagtagatggcacaaaccttcagggttttactaatcagcaagcagtagaggtattgcgacatacaggacaaactgtgctcctgacactaatgaggagaggaatgaagcaggaagccgagctcatgtcaagggaagacgtcacaaaagatgcagatttgtctcctgttaatgccagcataatcaaagaaaattatgaaaaagatgaagattttttatcttcgacgagaaacaccaacatattaccaactgaagaagaagggtatccattactgtcagctgagatagaagaaatagaagatgcacaaaaacaagaagctgctctgctgacaaaatggcaaaggattatgggaattaactatgaaatagtggtggcccatgtgagcaagtttagtgagaacagtggattggggataagcctggaagcgacagtgggacatcattttatccgatctgttctaccagagggtcctgttggacacagcgggaagctcttcagtggagacgagctattggaagtaaatggcataactttacttggggaaaatcaccaagatgtggtgaatatcttaaaagaactgcctatagaagtgacaatggtgtgctgtcgtcgaactgtgccacccaccacccaatcagaattggatagcctggacttatgtgatattgagctaacagaaaagcctcacgtagatctaggtgagttcatcgggtcatcagagacagaggatccagtgctggcgatgactgatgcgggtcagagtacagaagaggttcaagcacctttggccatgtgggaggctggcattcagcacatagagctggagaaagggagcaaaggacttggttttagcattttagattatcaggatccaattgatccagcaagcactgtgattataattcgttctttggtgcctggcggcattgctgaaaaggatggacgacttcttcctggtgaccgactcatgtttgtaaacgatgttaacttggaaaacagcagtcttgaggaagctgtagaagcactgaagggagcaccgtcagggactgtgagaataggagttgctaagcctttacccctttcaccagaagaaggttatgtttctgctaaggaggattcctttctctacccaccacactcctgtgaggaagcagggctggctgacaaacccctcttcagggctgacttggctctggtgggcacaaatgatgctgacttagtagatgaatccacatttgagtctccatactctcctgaaaatgacagcatctactctactcaagcctctattttatctcttcatggcagttcttgtggtgatggcctgaactatggttcttcccttccatcatctcctcctaaggatgttattgaaaattcttgtgatccagtacttgatctgcatatgtctctggaggaactatatacccagaatctcctgcaaagacaggatgagaatacaccttcggtggacataagtatggggcctgcttctggctttactataaatgactacacacctgcaaatgctattgaacaacaatatgaatgtgaaaacacaatagtgtggactgaatctcatttaccaagtgaagttatatcaagtgcagaacttccttctgtgctacccgattcagctggaaagggctctgagtacctgcttgaacagagctccctggcctgtaatgctgagtgtgtcatgcttcaaaatgtatctaaagaatcttttgaaaggactattaatatagcaaaaggcaattctagcctaggaatgacagttagtgctaataaagatggcttggggatgatcgttcgaagcattattcatggaggtgccattagtcgagatggccggattgccattggggactgcatcttgtccattaatgaagagtctaccatcagtgtaaccaatgcccaggcacgagctatgttgagaagacattctctcattggccctgacataaaaattacttatgtgcctgcagaacatttggaagagttcaaaataagcttgggacaacaatctggaagagtaatggcactggatattttttcttcatacactggcagagacattccagaattaccagagcgagaagagggagagggtgaagaaagcgaacttcaaaacacagcatatagcaattggaatcagcccaggcgggtggaactctggagagaaccaagcaaatccttaggcatcagcattgttggtggacgagggatggggagtcggctaagcaatggagaagtgatgaggggcattttcatcaaacatgttctggaagatagtccagctggcaaaaatggaaccttgaaacctggagatagaatcgtagaggtggatggaatggacctcagagatgcaagccatgaacaagctgtggaagccattcggaaagcaggcaaccctgtagtctttatggtacagagcattataaacagaccaaggaaatcccctttgccttccttgctgcacaacctttaccctaagtacaacttcagcagcactaacccatttgctgactctctacaaatcaacgccgacaaggcacccagtcagtcagagtcagagccagagaaggctccattgtgcagtgtgcccccaccccctccttcagcctttgccgaaatgggtagtgatcacacacagtcatctgcaagcaaaatctcacaagatgtggacaaagaggatgagtttggttacagctggaaaaatatcagagagcgttatggaaccctaacaggcgagctgcatatgattgaactggagaaaggtcatagtggtttgggcctaagtcttgctgggaacaaagaccgatccaggatgagtgtcttcatagtggggattgatccaaatggagctgcaggaaaagatggtcgattgcaaattgcagatgagcttctagagatcaatggtcagattttatatggaagaagtcatcagaatgcctcatcaatcattaaatgtgccccttctaaagtgaaaataatttttatcagaaataaagatgcagtgaatcagatggccgtatgtcctggaaatgcagtagaacctttgccttctaactcagaaaatcttcaaaataaggagacagagccaactgttactacttctgatgcagctgtggacctcagttcatttaaaaatgtgcaacatctggagcttcccaaggatcaggggggtttgggtattgctatcagcgaagaagatacactcagtggagtcatcataaagagcttaacagagcatggggtagcagccacggatggacgactcaaagtcggagatcagatactggctgtagatgatgaaattgttgttggttaccctattgaaaagtttattagccttctgaagacagcaaagatgacagtaaaacttaccatccatgctgagaatccagattcccaggctgttccttcagcagctggtgcagccagtggagaaaaaaagaacagctcccagtctctgatggtcccacagtctggctccccagaaccggagtccatccgaaatacaagcagatcatcaacaccagcaatttttgcttctgatcctgcaacctgccccattatccctggctgcgaaacaaccatcgagatttccaaagggcgaacagggctgggcctgagcatcgttgggggttcagacacgctgctgggtgccattattatccatgaagtttatgaagaaggagcagcatgtaaagatggaagactctgggctggagatcagatcttagaggtgaatggaattgacttgagaaaggccacacatgatgaagcaatcaatgtcctgagacagacgccacagagagtgcgcctgacactctacagagatgaggccccatacaaagaggaggaagtgtgtgacaccctcactattgagctgcagaagaagccgggaaaaggcctaggattaagtattgttggtaaaagaaacgatactggagtatttgtgtcagacattgtcaaaggaggaattgcagatgccgatggaagactgatgcagggagaccagatattaatggtgaatggggaagacgttcgtaatgccacccaagaagcggttgccgctttgctaaaggtgagtgaaggcagcctgtcatctttcacttttccactctctggatccagtacatctgagtcactggaaagtagctcaaagaagaatgcattggcatctgaaatacagggattaagaacagtcgaaatgaaaaagggccctactgactcactgggaatcagcatcgctggaggagtaggcagcccacttggtgatgtgcctatatttattgcaatgatgcacccaactggagttgcagcacagacccaaaaactcagagttggggataggattgtcaccatctgtggcacatccactgagggcatgactcacacccaagcagttaacctactgaaaaatgcatctggctccattgaaatgcaggtggttgctggaggagacgtgagtgtggtcacaggtcatcagcaggagcctgcaagttccagtctttctttcactgggctgacgtcaagcagtatatttcaggatgatttaggacctcctcaatgtaagtctattacactagagcgaggaccagatggcttaggcttcagtatagttggaggatatggcagccctcatggagacttacccatttatgttaaaacagtgtttgcaaagggagcagcctctgaagacggacgtctgaaaaggggcgatcagatcattgctgtcaatgggcagagtctagaaggagtcacccatgaagaagctgttgccatccttaaacggacaaaaggcactgtcactttgatggttctctcttgaattggctgccagaattgaaccaacccaacccctagctcacctcctactgtaaagagaatgcactggtcctgacaatttttatgctgtgttcagccgggtcttcaaaactgtaggggggaaataacacttaagtttctttttctcatctagaaatgctttccttactgacaacctaacatcatttttcttttcttcttgcattttgtgaacttaaagagaaggaatatttgtgtaggtgaatctcgtttttatttgtggagatatctaatgttttgtagtcacatgggcaagaattattacatgctaagctggttagtataaagaaagataattctaaagctaaccaaagaaaatggcttcagtaaattaggatgaaaaatgaaaatataaaataaagaagaaaatctcggggagtttaaaaaaaatgcctcaatttggcaatctacctcctctccccaccccaaactaaaaaaagaaaaaaaggttttctaatgaaaatctttaaaaatactgtcagtattttaaaattttcaacagtattataaaaacattgcatctccccacctctaatatgcatatatatttttcctgctaaaattggtttctacaattgagtaaatggcaaatacatgaagcaatgtccctaaattttataaagaaattatatttaatgcacatttcaattttcattcttatttttgaccttttgtaaaatattttcatgttgctataagtaaatgatgatgccaccccatgttgactatggtttttctagaaagcaactatgctgctaaccatagaggaacatagaagggttccagaatctttagtgctggttttaacaaccgatgcaacattaaaaatgtgttagtgtgctgtgcaattggttttcaattcatattaatcttaatgacagagaacaatgtgttactaattattttggttgtatgccattagtaaattgatagaaaaattaaggggattaacataacttcatttcattgccttatattaacatcttataatacaatagtttaagactaagggaaacagatggagctgtttattgagacaactggtgaggaattatcatgtgttcattcccattttagagcgtgaaactcctacattagaatatataaagtcactttaaatatctatatttgtaacagaagtagtgtacagatattttattacagcatttttgtgtaaatgcagaattaaagtgaataaataagaattttcagtggtgcacaaataaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:8777 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:8777 -> Molecular function: GO:0008022 [protein C-terminus binding] evidence: IPI
GeneID:8777 -> Biological process: GO:0007155 [cell adhesion] evidence: IEA
GeneID:8777 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA
GeneID:8777 -> Biological process: GO:0042552 [myelination] evidence: IEA
GeneID:8777 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:8777 -> Cellular component: GO:0005923 [tight junction] evidence: IEA
GeneID:8777 -> Cellular component: GO:0014069 [postsynaptic density] evidence: IEA
GeneID:8777 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
GeneID:8777 -> Cellular component: GO:0016327 [apicolateral plasma membrane] evidence: IDA
GeneID:8777 -> Cellular component: GO:0030425 [dendrite] evidence: IEA
GeneID:8777 -> Cellular component: GO:0031410 [cytoplasmic vesicle] evidence: IEA
GeneID:8777 -> Cellular component: GO:0043220 [Schmidt-Lanterman incisure] evidence: IEA
GeneID:8777 -> Cellular component: GO:0045211 [postsynaptic membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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