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 16-JAN-2019, entry version 153. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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- RT like 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. RT The complete sequences of 100 new cDNA clones from brain which can RT code for 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., RA Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., RA Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., RA Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., RA Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., RA Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., RA Wood W.I., Godowski P.J., Gray A.M.; RT "The secreted protein discovery initiative (SPDI), a large-scale RT effort to identify novel human secreted and transmembrane proteins: a RT bioinformatics 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 CC be involved in the establishment and maintenance of specific CC neuronal connections in the brain. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass CC type I 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.368160; -. DR ProteinModelPortal; O60330; -. DR SMR; O60330; -. DR BioGrid; 117494; 3. DR iPTMnet; O60330; -. DR PhosphoSitePlus; O60330; -. DR BioMuta; PCDHGA12; -. DR EPD; O60330; -. DR jPOST; O60330; -. DR MaxQB; O60330; -. DR PaxDb; O60330; -. DR PeptideAtlas; O60330; -. DR PRIDE; O60330; -. DR ProteomicsDB; 49346; -. DR ProteomicsDB; 49347; -. [O60330-2] DR Ensembl; ENST00000252085; ENSP00000252085; ENSG00000253159. [O60330-1] DR Ensembl; ENST00000613314; ENSP00000481438; ENSG00000253159. [O60330-2] DR GeneID; 26025; -. DR KEGG; hsa:26025; -. DR UCSC; uc003lkt.3; human. [O60330-1] DR CTD; 26025; -. DR EuPathDB; HostDB:ENSG00000253159.2; -. DR GeneCards; PCDHGA12; -. DR HGNC; HGNC:8699; PCDHGA12. DR HPA; HPA008755; -. DR HPA; HPA010580; -. DR MIM; 603059; gene. DR MIM; 604968; gene. DR neXtProt; NX_O60330; -. DR OpenTargets; ENSG00000253159; -. DR PharmGKB; PA33047; -. DR eggNOG; KOG3594; Eukaryota. DR eggNOG; ENOG410XQHI; LUCA. DR GeneTree; ENSGT00940000164062; -. DR HOGENOM; HOG000220892; -. DR HOVERGEN; HBG054878; -. DR InParanoid; O60330; -. DR KO; K16495; -. DR OMA; STQIRYS; -. DR OrthoDB; 213724at2759; -. DR PhylomeDB; O60330; -. DR TreeFam; TF332299; -. DR GeneWiki; PCDHGA12; -. DR GenomeRNAi; 26025; -. DR PRO; PR:O60330; -. DR Proteomes; UP000005640; Chromosome 5. DR Bgee; ENSG00000253159; Expressed in 90 organ(s), highest expression level in putamen. 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 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; KW Complete proteome; Glycoprotein; Membrane; Reference proteome; Repeat; KW Signal; Transmembrane; Transmembrane helix. FT SIGNAL 1 29 {ECO:0000255}. FT CHAIN 30 932 Protocadherin gamma-A12. FT /FTId=PRO_0000003970. FT TOPO_DOM 30 692 Extracellular. {ECO:0000255}. FT TRANSMEM 693 713 Helical. {ECO:0000255}. FT TOPO_DOM 714 932 Cytoplasmic. {ECO:0000255}. FT DOMAIN 30 133 Cadherin 1. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 134 242 Cadherin 2. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 243 347 Cadherin 3. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 348 452 Cadherin 4. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 453 562 Cadherin 5. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 570 683 Cadherin 6. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT CARBOHYD 265 265 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 419 419 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 545 545 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 809 820 QAPPNTDWRFSQ -> VSLYQIFFLFFF (in isoform FT 2). {ECO:0000303|PubMed:10380929}. FT /FTId=VSP_008682. FT VAR_SEQ 821 932 Missing (in isoform 2). FT {ECO:0000303|PubMed:10380929}. FT /FTId=VSP_008683. FT CONFLICT 331 331 A -> P (in Ref. 4; BAA21135). FT {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 //