IGDC3_HUMAN
ID IGDC3_HUMAN Reviewed; 814 AA.
AC Q8IVU1; O95215;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Immunoglobulin superfamily DCC subclass member 3;
DE AltName: Full=Putative neuronal cell adhesion molecule;
DE Flags: Precursor;
GN Name=IGDCC3; Synonyms=PUNC;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT LEU-751.
RC TISSUE=Eye, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 507-814, AND VARIANT LEU-751.
RC TISSUE=Placenta;
RX PubMed=9922388; DOI=10.1007/s003359900953;
RA Salbaum J.M.;
RT "Genomic structure and chromosomal localization of the mouse gene Punc.";
RL Mamm. Genome 10:107-111(1999).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC protein {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. DCC family.
CC {ECO:0000305}.
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DR EMBL; AC105129; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042054; AAH42054.1; -; mRNA.
DR EMBL; BC067107; AAH67107.1; -; mRNA.
DR EMBL; AF063936; AAD13399.1; -; mRNA.
DR CCDS; CCDS10205.1; -.
DR RefSeq; NP_004875.2; NM_004884.3.
DR AlphaFoldDB; Q8IVU1; -.
DR SMR; Q8IVU1; -.
DR BioGRID; 114918; 2.
DR STRING; 9606.ENSP00000332773; -.
DR GlyGen; Q8IVU1; 7 sites.
DR iPTMnet; Q8IVU1; -.
DR PhosphoSitePlus; Q8IVU1; -.
DR BioMuta; IGDCC3; -.
DR DMDM; 296434537; -.
DR EPD; Q8IVU1; -.
DR MassIVE; Q8IVU1; -.
DR PaxDb; Q8IVU1; -.
DR PeptideAtlas; Q8IVU1; -.
DR PRIDE; Q8IVU1; -.
DR ProteomicsDB; 70769; -.
DR Antibodypedia; 2652; 43 antibodies from 12 providers.
DR DNASU; 9543; -.
DR Ensembl; ENST00000327987.9; ENSP00000332773.4; ENSG00000174498.14.
DR GeneID; 9543; -.
DR KEGG; hsa:9543; -.
DR MANE-Select; ENST00000327987.9; ENSP00000332773.4; NM_004884.4; NP_004875.2.
DR UCSC; uc002aos.2; human.
DR CTD; 9543; -.
DR DisGeNET; 9543; -.
DR GeneCards; IGDCC3; -.
DR HGNC; HGNC:9700; IGDCC3.
DR HPA; ENSG00000174498; Tissue enhanced (brain, parathyroid gland, placenta).
DR MIM; 604184; gene.
DR neXtProt; NX_Q8IVU1; -.
DR OpenTargets; ENSG00000174498; -.
DR PharmGKB; PA164720881; -.
DR VEuPathDB; HostDB:ENSG00000174498; -.
DR eggNOG; KOG4221; Eukaryota.
DR eggNOG; KOG4222; Eukaryota.
DR GeneTree; ENSGT00940000156969; -.
DR HOGENOM; CLU_018612_2_0_1; -.
DR InParanoid; Q8IVU1; -.
DR OMA; CGLMEGK; -.
DR OrthoDB; 1010015at2759; -.
DR PhylomeDB; Q8IVU1; -.
DR TreeFam; TF321506; -.
DR PathwayCommons; Q8IVU1; -.
DR SignaLink; Q8IVU1; -.
DR BioGRID-ORCS; 9543; 13 hits in 1072 CRISPR screens.
DR ChiTaRS; IGDCC3; human.
DR GenomeRNAi; 9543; -.
DR Pharos; Q8IVU1; Tdark.
DR PRO; PR:Q8IVU1; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8IVU1; protein.
DR Bgee; ENSG00000174498; Expressed in oocyte and 125 other tissues.
DR ExpressionAtlas; Q8IVU1; baseline and differential.
DR Genevisible; Q8IVU1; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IEA:Ensembl.
DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR CDD; cd00063; FN3; 2.
DR Gene3D; 2.60.40.10; -; 6.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF00041; fn3; 2.
DR Pfam; PF07679; I-set; 2.
DR SMART; SM00060; FN3; 2.
DR SMART; SM00409; IG; 4.
DR SMART; SM00408; IGc2; 4.
DR SUPFAM; SSF48726; SSF48726; 4.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 2.
DR PROSITE; PS50835; IG_LIKE; 4.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Immunoglobulin domain; Membrane;
KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..35
FT /evidence="ECO:0000255"
FT CHAIN 36..814
FT /note="Immunoglobulin superfamily DCC subclass member 3"
FT /id="PRO_0000014920"
FT TRANSMEM 641..661
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 36..139
FT /note="Ig-like C2-type 1"
FT DOMAIN 140..220
FT /note="Ig-like C2-type 2"
FT DOMAIN 238..321
FT /note="Ig-like C2-type 3"
FT DOMAIN 329..416
FT /note="Ig-like C2-type 4"
FT DOMAIN 426..520
FT /note="Fibronectin type-III 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT DOMAIN 523..618
FT /note="Fibronectin type-III 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT REGION 722..743
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 762..814
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 93
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 246
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 381
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 382
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 580
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 604
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 634
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 63..117
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 160..209
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 259..307
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 351..400
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 751
FT /note="V -> L (in dbSNP:rs12907128)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9922388"
FT /id="VAR_060356"
FT CONFLICT 598
FT /note="N -> S (in Ref. 3; AAD13399)"
FT /evidence="ECO:0000305"
FT CONFLICT 650
FT /note="T -> A (in Ref. 3; AAD13399)"
FT /evidence="ECO:0000305"
FT CONFLICT 654
FT /note="F -> L (in Ref. 3; AAD13399)"
FT /evidence="ECO:0000305"
FT CONFLICT 729
FT /note="Q -> R (in Ref. 3; AAD13399)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 814 AA; 86724 MW; 7081B88569F77C68 CRC64;
MAVQRAASPR RPPAPLWPRL LLPLLLLLLP APSEGLGHSA ELAFAVEPSD DVAVPGQPIV
LDCRVEGTPP VRITWRKNGV ELPESTHSTL LANGSLMIRH FRLEPGGSPS DEGDYECVAQ
NRFGLVVSRK ARIQAATMSD FHVHPQATVG EEGGVARFQC QIHGLPKPLI TWEKNRVPID
TDNERYTLLP KGVLQITGLR AEDGGIFHCV ASNIASIRIS HGARLTVSGS GSGAYKEPAI
LVGPENLTLT VHQTAVLECV ATGNPRPIVS WSRLDGRPIG VEGIQVLGTG NLIISDVTVQ
HSGVYVCAAN RPGTRVRRTA QGRLVVQAPA EFVQHPQSIS RPAGTTAMFT CQAQGEPPPH
VTWLKNGQVL GPGGHVRLKN NNSTLTISGI GPEDEAIYQC VAENSAGSSQ ASARLTVLWA
EGLPGPPRNV RAVSVSSTEV RVSWSEPLAN TKEIIGYVLH IRKAADPPEL EYQEAVSKST
FQHLVSDLEP STAYSFYIKA YTPRGASSAS VPTLASTLGE APAPPPLSVR VLGSSSLQLL
WEPWPRLAQH EGGFKLFYRP ASKTSFTGPI LLPGTVSSYN LSQLDPTAVY EVKLLAYNQH
GDGNATVRFV SLRGASERTA LSPPCDCRKE EAANQTSTTG IVIGIHIGVT CIIFCVLFLL
FGQRGRVLLC KDVENQLSPP QGPRSQRDPG ILALNGARRG QRGQLGRDEK RVDMKELEQL
FPPASAAGQP DPRPTQDPAA PAPCEETQLS VLPLQGCGLM EGKTTEAKTT EATAPCAGLA
AAPPPPDGGP GLLSEGQASR PAAARVTQPA HSEQ
