PCDG3_HUMAN
ID PCDG3_HUMAN Reviewed; 932 AA.
AC Q9Y5H0; Q9Y5D4;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=Protocadherin gamma-A3;
DE Short=PCDH-gamma-A3;
DE Flags: Precursor;
GN Name=PCDHGA3;
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 GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
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=Q9Y5H0-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5H0-2; Sequence=VSP_008663, VSP_008664;
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DR EMBL; AF152323; AAD43717.1; -; mRNA.
DR EMBL; AF152510; AAD43770.1; -; mRNA.
DR EMBL; AC005366; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005618; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS47290.1; -. [Q9Y5H0-1]
DR CCDS; CCDS75329.1; -. [Q9Y5H0-2]
DR RefSeq; NP_061739.2; NM_018916.3. [Q9Y5H0-1]
DR RefSeq; NP_114400.1; NM_032011.1. [Q9Y5H0-2]
DR AlphaFoldDB; Q9Y5H0; -.
DR SMR; Q9Y5H0; -.
DR BioGRID; 121052; 7.
DR STRING; 9606.ENSP00000253812; -.
DR GlyGen; Q9Y5H0; 7 sites, 1 O-linked glycan (3 sites).
DR iPTMnet; Q9Y5H0; -.
DR PhosphoSitePlus; Q9Y5H0; -.
DR BioMuta; PCDHGA3; -.
DR DMDM; 296439266; -.
DR EPD; Q9Y5H0; -.
DR jPOST; Q9Y5H0; -.
DR MassIVE; Q9Y5H0; -.
DR MaxQB; Q9Y5H0; -.
DR PaxDb; Q9Y5H0; -.
DR PeptideAtlas; Q9Y5H0; -.
DR PRIDE; Q9Y5H0; -.
DR TopDownProteomics; Q9Y5H0-2; -. [Q9Y5H0-2]
DR Antibodypedia; 57467; 274 antibodies from 17 providers.
DR DNASU; 56112; -.
DR Ensembl; ENST00000253812.8; ENSP00000253812.7; ENSG00000254245.3. [Q9Y5H0-1]
DR Ensembl; ENST00000619750.1; ENSP00000479265.1; ENSG00000254245.3. [Q9Y5H0-2]
DR GeneID; 56112; -.
DR KEGG; hsa:56112; -.
DR MANE-Select; ENST00000253812.8; ENSP00000253812.7; NM_018916.4; NP_061739.2.
DR UCSC; uc003ljm.3; human. [Q9Y5H0-1]
DR CTD; 56112; -.
DR DisGeNET; 56112; -.
DR GeneCards; PCDHGA3; -.
DR HGNC; HGNC:8701; PCDHGA3.
DR HPA; ENSG00000254245; Low tissue specificity.
DR MIM; 604968; gene.
DR MIM; 606290; gene.
DR neXtProt; NX_Q9Y5H0; -.
DR OpenTargets; ENSG00000254245; -.
DR PharmGKB; PA33049; -.
DR VEuPathDB; HostDB:ENSG00000254245; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164906; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H0; -.
DR OMA; TQPEYQV; -.
DR OrthoDB; 190510at2759; -.
DR PhylomeDB; Q9Y5H0; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H0; -.
DR SIGNOR; Q9Y5H0; -.
DR BioGRID-ORCS; 56112; 13 hits in 1023 CRISPR screens.
DR GenomeRNAi; 56112; -.
DR Pharos; Q9Y5H0; Tbio.
DR PRO; PR:Q9Y5H0; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H0; protein.
DR Bgee; ENSG00000254245; Expressed in stromal cell of endometrium and 93 other tissues.
DR ExpressionAtlas; Q9Y5H0; baseline and differential.
DR Genevisible; Q9Y5H0; HS.
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:0008333; P:endosome to lysosome transport; IEA:Ensembl.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR GO; GO:0060989; P:lipid tube assembly involved in organelle fusion; IEA:Ensembl.
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 InterPro; IPR030725; PCDHGA2/A3.
DR PANTHER; PTHR24028:SF134; PTHR24028:SF134; 1.
DR Pfam; PF00028; Cadherin; 4.
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-A3"
FT /id="PRO_0000003952"
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..682
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 805..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 806..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 CARBOHYD 685
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 809..829
FT /note="QAPPNTDWRFSQAQRPGTSGS -> VSLFISLIIKNKYENVVIIKL (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008663"
FT VAR_SEQ 830..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008664"
FT VARIANT 79
FT /note="P -> S (in dbSNP:rs11575947)"
FT /id="VAR_055588"
FT VARIANT 154
FT /note="I -> L (in dbSNP:rs11575948)"
FT /id="VAR_055589"
FT VARIANT 743
FT /note="A -> V (in dbSNP:rs7736541)"
FT /id="VAR_059190"
FT CONFLICT 29
FT /note="G -> S (in Ref. 1; AAD43717)"
FT /evidence="ECO:0000305"
FT CONFLICT 646
FT /note="V -> I (in Ref. 1; AAD43717)"
FT /evidence="ECO:0000305"
FT CONFLICT 661
FT /note="T -> I (in Ref. 1; AAD43717)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 932 AA; 100971 MW; FBDA8E923A12D519 CRC64;
MTNCLSFRNG RGLALLCALL GTLCETGSGQ IRYSVSEELD KGSFVGNIAN DLGLEPRELA
ERGVRIVSRG RTQLFSLNPQ SGSLVTAERI DREELCAQIP LCLVKINILV EDKLKIFEVE
IEIKDINDNA PNFPTEELEI KIGELTVPGT RFPIKTAFDP DVGINSLQNY KLSPNDYFSL
AVNSVSEGAK YPELVLERAL DREKKEIHQL VLVASDGGDP VHSGNLHIQV IVLDANDNPP
MFTQPEYRVS VWENVPVGTR LLTVNATDPD EGFNAQVSYI LDKMPGKIAE IFHLNSVSGE
VSILKSLDYE DAMFYEIKIE AQDGPGLLSR AKILVTVLDV NDNAPEITIT SLTSSVPEEG
TVGREIALID VHDRDSGQNG QVEVFVLGNL PFKLEKSIDQ YYRLVTATSL DREQISEYNI
SLRASDGGSP PLSTETHITL HVIDINDNPP TFPHLSYSAY IPENNPRGAS IFSVTAQDPD
SNNNARITYA LTEDTLQGAP LSSFVSINSN TGVLYALRSF DYEQFRDLKL LVTASDSGNP
PLSSNVSLNL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADRIPD ILADLGSLEP SAKPNDSDLT LYLVVAVAAV SCVFLAFVIV LLALRLRRWH
KSRLLQASGG GLASTPGSHF VGADGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
SQESCEKSEP LLITQDLLEM KGDSNLLQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
