PCDGC_HUMAN
ID PCDGC_HUMAN Reviewed; 932 AA.
AC O60330; O15100; Q6UW70; Q9Y5D7;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1998, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Protocadherin gamma-A12;
DE Short=PCDH-gamma-A12;
DE AltName: Full=Cadherin-21;
DE AltName: Full=Fibroblast cadherin-3;
DE Flags: Precursor;
GN Name=PCDHGA12; Synonyms=CDH21, FIB3, KIAA0588; ORFNames=UNQ371/PRO707;
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 [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
RX PubMed=10380929; DOI=10.1016/s0092-8674(00)80789-8;
RA Wu Q., Maniatis T.;
RT "A striking organization of a large family of human neural cadherin-like
RT cell adhesion genes.";
RL Cell 97:779-790(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-808.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 311-444.
RX PubMed=9199196; DOI=10.1006/bbrc.1997.6707;
RA Matsuyoshi N., Imamura S.;
RT "Multiple cadherins are expressed in human fibroblasts.";
RL Biochem. Biophys. Res. Commun. 235:355-358(1997).
CC -!- FUNCTION: Potential calcium-dependent cell-adhesion protein. May be
CC involved in the establishment and maintenance of specific neuronal
CC connections in the brain.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O60330-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=O60330-2; Sequence=VSP_008682, VSP_008683;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ89305.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC Sequence=BAA25514.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF152321; AAD43715.1; -; mRNA.
DR EMBL; AF152506; AAD43767.1; -; mRNA.
DR EMBL; AB011160; BAA25514.2; ALT_INIT; mRNA.
DR EMBL; AY358946; AAQ89305.1; ALT_SEQ; mRNA.
DR EMBL; AB000897; BAA21135.1; -; mRNA.
DR CCDS; CCDS4260.1; -. [O60330-1]
DR CCDS; CCDS75346.1; -. [O60330-2]
DR PIR; PC4299; PC4299.
DR RefSeq; NP_003726.1; NM_003735.2. [O60330-1]
DR RefSeq; NP_115265.1; NM_032094.1. [O60330-2]
DR AlphaFoldDB; O60330; -.
DR SMR; O60330; -.
DR BioGRID; 117494; 9.
DR IntAct; O60330; 2.
DR STRING; 9606.ENSP00000252085; -.
DR GlyGen; O60330; 4 sites, 1 O-linked glycan (1 site).
DR iPTMnet; O60330; -.
DR PhosphoSitePlus; O60330; -.
DR BioMuta; PCDHGA12; -.
DR EPD; O60330; -.
DR jPOST; O60330; -.
DR MassIVE; O60330; -.
DR MaxQB; O60330; -.
DR PaxDb; O60330; -.
DR PeptideAtlas; O60330; -.
DR PRIDE; O60330; -.
DR ProteomicsDB; 49346; -. [O60330-1]
DR ProteomicsDB; 49347; -. [O60330-2]
DR Antibodypedia; 57527; 18 antibodies from 6 providers.
DR DNASU; 26025; -.
DR Ensembl; ENST00000252085.4; ENSP00000252085.3; ENSG00000253159.3. [O60330-1]
DR Ensembl; ENST00000613314.1; ENSP00000481438.1; ENSG00000253159.3. [O60330-2]
DR GeneID; 26025; -.
DR KEGG; hsa:26025; -.
DR MANE-Select; ENST00000252085.4; ENSP00000252085.3; NM_003735.3; NP_003726.1.
DR UCSC; uc003lkt.3; human. [O60330-1]
DR CTD; 26025; -.
DR DisGeNET; 26025; -.
DR GeneCards; PCDHGA12; -.
DR HGNC; HGNC:8699; PCDHGA12.
DR HPA; ENSG00000253159; Tissue enhanced (brain).
DR MIM; 603059; gene.
DR MIM; 604968; gene.
DR neXtProt; NX_O60330; -.
DR OpenTargets; ENSG00000253159; -.
DR PharmGKB; PA33047; -.
DR VEuPathDB; HostDB:ENSG00000253159; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164062; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; O60330; -.
DR OMA; YWAYIPE; -.
DR OrthoDB; 213724at2759; -.
DR PhylomeDB; O60330; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; O60330; -.
DR SignaLink; O60330; -.
DR SIGNOR; O60330; -.
DR BioGRID-ORCS; 26025; 7 hits in 1015 CRISPR screens.
DR GeneWiki; PCDHGA12; -.
DR GenomeRNAi; 26025; -.
DR Pharos; O60330; Tdark.
DR PRO; PR:O60330; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; O60330; protein.
DR Bgee; ENSG00000253159; Expressed in stromal cell of endometrium and 96 other tissues.
DR Genevisible; O60330; HS.
DR GO; GO:0005911; C:cell-cell junction; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR GO; GO:0007399; P:nervous system development; IEA:UniProt.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR032455; Cadherin_C.
DR InterPro; IPR031904; Cadherin_CBD.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR Pfam; PF16492; Cadherin_C_2; 1.
DR Pfam; PF15974; Cadherin_tail; 1.
DR PRINTS; PR00205; CADHERIN.
DR SMART; SM00112; CA; 6.
DR SUPFAM; SSF49313; SSF49313; 6.
DR PROSITE; PS00232; CADHERIN_1; 5.
DR PROSITE; PS50268; CADHERIN_2; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell adhesion; Cell membrane; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..932
FT /note="Protocadherin gamma-A12"
FT /id="PRO_0000003970"
FT TOPO_DOM 30..692
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 693..713
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 714..932
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 30..133
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 134..242
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 243..347
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 348..452
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 453..562
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 570..683
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 803..841
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 902..932
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 813..841
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 265
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 419
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 545
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 809..820
FT /note="QAPPNTDWRFSQ -> VSLYQIFFLFFF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008682"
FT VAR_SEQ 821..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008683"
FT CONFLICT 331
FT /note="A -> P (in Ref. 4; BAA21135)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 932 AA; 100955 MW; 8BDA90084785D746 CRC64;
MIPARLHRDY KGLVLLGILL GTLWETGCTQ IRYSVPEELE KGSRVGDISR DLGLEPRELA
ERGVRIIPRG RTQLFALNPR SGSLVTAGRI DREELCMGAI KCQLNLDILM EDKVKIYGVE
VEVRDINDNA PYFRESELEI KISENAATEM RFPLPHAWDP DIGKNSLQSY ELSPNTHFSL
IVQNGADGSK YPELVLKRAL DREEKAAHHL VLTASDGGDP VRTGTARIRV MVLDANDNAP
AFAQPEYRAS VPENLALGTQ LLVVNATDPD EGVNAEVRYS FRYVDDKAAQ VFKLDCNSGT
ISTIGELDHE ESGFYQMEVQ AMDNAGYSAR AKVLITVLDV NDNAPEVVLT SLASSVPENS
PRGTLIALLN VNDQDSEENG QVICFIQGNL PFKLEKSYGN YYSLVTDIVL DREQVPSYNI
TVTATDRGTP PLSTETHISL NVADTNDNPP VFPQASYSAY IPENNPRGVS LVSVTAHDPD
CEENAQITYS LAENTIQGAS LSSYVSINSD TGVLYALSSF DYEQFRDLQV KVMARDNGHP
PLSSNVSLSL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADSIPQ VLADLGSLES PANSETSDLT LYLVVAVAAV SCVFLAFVIL LLALRLRRWH
KSRLLQASGG GLTGAPASHF VGVDGVQAFL QTYSHEVSLT TDSRKSHLIF PQPNYADMLV
SQESFEKSEP LLLSGDSVFS KDSHGLIEQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
