PCDG1_HUMAN
ID PCDG1_HUMAN Reviewed; 931 AA.
AC Q9Y5H4; Q2M273; Q9Y5D6;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Protocadherin gamma-A1;
DE Short=PCDH-gamma-A1;
DE Flags: Precursor;
GN Name=PCDHGA1;
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], AND VARIANT ILE-152.
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-152.
RC TISSUE=Lung;
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).
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=Q9Y5H4-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5H4-2; Sequence=VSP_008659, VSP_008660;
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DR EMBL; AF152318; AAD43712.1; -; mRNA.
DR EMBL; CH471062; EAW61926.1; -; Genomic_DNA.
DR EMBL; AF152507; AAD43768.1; -; mRNA.
DR EMBL; BC112082; AAI12083.1; -; mRNA.
DR EMBL; BC112084; AAI12085.1; -; mRNA.
DR CCDS; CCDS54922.1; -. [Q9Y5H4-1]
DR RefSeq; NP_061735.1; NM_018912.2. [Q9Y5H4-1]
DR RefSeq; NP_114382.1; NM_031993.1. [Q9Y5H4-2]
DR AlphaFoldDB; Q9Y5H4; -.
DR SMR; Q9Y5H4; -.
DR STRING; 9606.ENSP00000431083; -.
DR GlyGen; Q9Y5H4; 4 sites.
DR iPTMnet; Q9Y5H4; -.
DR PhosphoSitePlus; Q9Y5H4; -.
DR BioMuta; PCDHGA1; -.
DR DMDM; 37999844; -.
DR jPOST; Q9Y5H4; -.
DR MassIVE; Q9Y5H4; -.
DR MaxQB; Q9Y5H4; -.
DR PaxDb; Q9Y5H4; -.
DR PeptideAtlas; Q9Y5H4; -.
DR PRIDE; Q9Y5H4; -.
DR Antibodypedia; 27257; 165 antibodies from 24 providers.
DR DNASU; 56114; -.
DR Ensembl; ENST00000378105.4; ENSP00000367345.3; ENSG00000204956.6. [Q9Y5H4-2]
DR Ensembl; ENST00000517417.3; ENSP00000431083.1; ENSG00000204956.6. [Q9Y5H4-1]
DR GeneID; 56114; -.
DR KEGG; hsa:56114; -.
DR MANE-Select; ENST00000517417.3; ENSP00000431083.1; NM_018912.3; NP_061735.1.
DR UCSC; uc003lji.2; human. [Q9Y5H4-1]
DR CTD; 56114; -.
DR DisGeNET; 56114; -.
DR GeneCards; PCDHGA1; -.
DR HGNC; HGNC:8696; PCDHGA1.
DR HPA; ENSG00000204956; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606288; gene.
DR neXtProt; NX_Q9Y5H4; -.
DR OpenTargets; ENSG00000204956; -.
DR PharmGKB; PA33044; -.
DR VEuPathDB; HostDB:ENSG00000204956; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164018; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H4; -.
DR OMA; HKVAQIF; -.
DR OrthoDB; 223098at2759; -.
DR PhylomeDB; Q9Y5H4; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H4; -.
DR SIGNOR; Q9Y5H4; -.
DR BioGRID-ORCS; 56114; 24 hits in 1021 CRISPR screens.
DR GenomeRNAi; 56114; -.
DR Pharos; Q9Y5H4; Tdark.
DR PRO; PR:Q9Y5H4; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H4; protein.
DR Bgee; ENSG00000204956; Expressed in stromal cell of endometrium and 87 other tissues.
DR Genevisible; Q9Y5H4; 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: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 InterPro; IPR030736; PCDHGA1.
DR PANTHER; PTHR24028:SF108; PTHR24028:SF108; 1.
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..28
FT /evidence="ECO:0000255"
FT CHAIN 29..931
FT /note="Protocadherin gamma-A1"
FT /id="PRO_0000003948"
FT TOPO_DOM 29..692
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 693..713
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 714..931
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 29..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 801..840
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 901..931
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 806..840
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 808..823
FT /note="QAPPNTDWRFSQAQRP -> VNFCDECISYLEKNNS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008659"
FT VAR_SEQ 824..931
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008660"
FT VARIANT 152
FT /note="V -> I (in dbSNP:rs2472647)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_021882"
FT VARIANT 282
FT /note="H -> Q (in dbSNP:rs17097185)"
FT /id="VAR_048555"
SQ SEQUENCE 931 AA; 101226 MW; 7B2E8BB616116197 CRC64;
MKIQKKLTGC SRLMLLCLSL ELLLEAGAGN IHYSVPEETD KGSFVGNIAK DLGLQPQELA
DGGVRIVSRG RMPLFALNPR SGSLITARRI DREELCAQSM PCLVSFNILV EDKMKLFPVE
VEIIDINDNT PQFQLEELEF KMNEITTPGT RVSLPFGQDL DVGMNSLQSY QLSSNPHFSL
DVQQGADGPQ HPEMVLQSPL DREEEAVHHL ILTASDGGEP VRSGTLRIYI QVVDANDNPP
AFTQAQYHIN VPENVPLGTQ LLMVNATDPD EGANGEVTYS FHNVDHRVAQ IFRLDSYTGE
ISNKEPLDFE EYKMYSMEVQ AQDGAGLMAK VKVLIKVLDV NDNAPEVTIT SVTTAVPENF
PPGTIIALIS VHDQDSGDNG YTTCFIPGNL PFKLEKLVDN YYRLVTERTL DRELISGYNI
TITAIDQGTP ALSTETHISL LVTDINDNSP VFHQDSYSAY IPENNPRGAS IFSVRAHDLD
SNENAQITYS LIEDTIQGAP LSAYLSINSD TGVLYALRSF DYEQFRDMQL KVMARDSGDP
PLSSNVSLSL FLLDQNDNAP EILYPALPTD GSTGVELAPL SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADRISD ILADLGSLEP SAKPNDSDLT LYLVVAAAAV SCVFLAFVIV LLAHRLRRWH
KSRLLQASGG GLASMPGSHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
SQESCEKKGF LSAPQSLLED KKEPFSQQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K
