PCDG4_HUMAN
ID PCDG4_HUMAN Reviewed; 962 AA.
AC Q9Y5G9; A0A087WT05; A0A087WTI2; Q9Y5D3;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 27-SEP-2017, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Protocadherin gamma-A4;
DE Short=PCDH-gamma-A4;
DE Flags: Precursor;
GN Name=PCDHGA4;
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=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).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 32-962 (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).
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 -!- INTERACTION:
CC Q9Y5G9; Q8IXM6: NRM; NbExp=3; IntAct=EBI-12956949, EBI-10262547;
CC Q9Y5G9; P09466: PAEP; NbExp=3; IntAct=EBI-12956949, EBI-465167;
CC Q9Y5G9; O43765: SGTA; NbExp=3; IntAct=EBI-12956949, EBI-347996;
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=Q9Y5G9-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G9-2; Sequence=VSP_008665, VSP_008666;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-32 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AC005618; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC008781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KC877131; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF152324; AAD43718.1; -; mRNA.
DR EMBL; AF152511; AAD43771.1; -; mRNA.
DR CCDS; CCDS58979.2; -. [Q9Y5G9-1]
DR CCDS; CCDS75331.1; -. [Q9Y5G9-2]
DR RefSeq; NP_061740.2; NM_018917.3. [Q9Y5G9-1]
DR RefSeq; NP_114442.2; NM_032053.2. [Q9Y5G9-2]
DR AlphaFoldDB; Q9Y5G9; -.
DR SMR; Q9Y5G9; -.
DR BioGRID; 121051; 31.
DR IntAct; Q9Y5G9; 3.
DR STRING; 9606.ENSP00000458570; -.
DR GlyGen; Q9Y5G9; 2 sites.
DR iPTMnet; Q9Y5G9; -.
DR PhosphoSitePlus; Q9Y5G9; -.
DR BioMuta; PCDHGA4; -.
DR DMDM; 37999839; -.
DR jPOST; Q9Y5G9; -.
DR MassIVE; Q9Y5G9; -.
DR MaxQB; Q9Y5G9; -.
DR PaxDb; Q9Y5G9; -.
DR PeptideAtlas; Q9Y5G9; -.
DR PRIDE; Q9Y5G9; -.
DR ProteomicsDB; 86379; -. [Q9Y5G9-1]
DR ProteomicsDB; 86380; -. [Q9Y5G9-2]
DR Antibodypedia; 60162; 39 antibodies from 11 providers.
DR DNASU; 56111; -.
DR Ensembl; ENST00000571252.3; ENSP00000458570.2; ENSG00000262576.3. [Q9Y5G9-1]
DR Ensembl; ENST00000612927.1; ENSP00000477894.1; ENSG00000262576.3. [Q9Y5G9-2]
DR GeneID; 56111; -.
DR KEGG; hsa:56111; -.
DR MANE-Select; ENST00000571252.3; ENSP00000458570.2; NM_018917.4; NP_061740.2.
DR CTD; 56111; -.
DR DisGeNET; 56111; -.
DR GeneCards; PCDHGA4; -.
DR HGNC; HGNC:8702; PCDHGA4.
DR HPA; ENSG00000262576; Low tissue specificity.
DR MIM; 604968; gene.
DR MIM; 606291; gene.
DR neXtProt; NX_Q9Y5G9; -.
DR OpenTargets; ENSG00000262576; -.
DR PharmGKB; PA33050; -.
DR VEuPathDB; HostDB:ENSG00000262576; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163745; -.
DR InParanoid; Q9Y5G9; -.
DR OMA; GLIWICI; -.
DR OrthoDB; 222156at2759; -.
DR PhylomeDB; Q9Y5G9; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G9; -.
DR SignaLink; Q9Y5G9; -.
DR SIGNOR; Q9Y5G9; -.
DR BioGRID-ORCS; 56111; 35 hits in 586 CRISPR screens.
DR GenomeRNAi; 56111; -.
DR Pharos; Q9Y5G9; Tdark.
DR PRO; PR:Q9Y5G9; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G9; protein.
DR Bgee; ENSG00000262576; Expressed in cortical plate and 102 other tissues.
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 1: Evidence at protein level;
KW Alternative splicing; Calcium; Cell adhesion; Cell membrane; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..59
FT /evidence="ECO:0000305"
FT CHAIN 60..962
FT /note="Protocadherin gamma-A4"
FT /id="PRO_0000003954"
FT TOPO_DOM 60..723
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 724..744
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 745..962
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 60..164
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 165..273
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 274..378
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 379..483
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 484..598
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 601..713
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 832..871
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 932..962
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 450
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 576
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 839..851
FT /note="QAPPNTDWRFSQA -> VSQSYNRSYHTEI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008665"
FT VAR_SEQ 852..962
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008666"
FT VARIANT 181
FT /note="A -> T (in dbSNP:rs11575949)"
FT /id="VAR_048557"
FT VARIANT 672
FT /note="R -> K (in dbSNP:rs4329068)"
FT /id="VAR_048558"
FT VARIANT 714
FT /note="D -> H (in dbSNP:rs11575951)"
FT /id="VAR_048559"
SQ SEQUENCE 962 AA; 103968 MW; 6A2AE19550423EC6 CRC64;
MHFILDPEDP GAPQASTEGK PKHRRLRGGV VMAAPPARPD HTRLLQICLL LGVLVEIRAE
QILYSVFEEQ EEGSVVGNIA KDLGLAPREL AERGVRIVSR GRTQLFALNP RSGTLVTAGR
IDREELCDRS PNCVTNLEIL LEDTVKILRV EVEIIDVNDN PPSFGTEQRE IKVAENENPG
ARFPLPEAFD PDVGVNSLQG YQLNSNGYFS LDVQSGADGI KYPELVLERA LDREEEAVHH
LVLTAFDGGD PVRSGTARIL IILVDTNDNA PVFTQPEYHV SVRENVPVGT RLLTVKATDP
DEGANGDVTY SFRKVRDKIS QLFQLNSLSG DITILGGLDY EDSGFYDIDV EAHDGPGLRA
RSKVLVTVLD ENDNAPEVTV TSLTSSVQES SSPGTVIALF NVHDSDSGGN GLVTCSIPDN
LPFTLEKTYG NYYRLLTHRT LDREEVSEYN ITVTATDQGT PPLSTETHIS LQVMDINDNP
PTFPHASYSA YIPENNPRGA SILSMTAQDP DSGDNARITY SLAEDTFQGA PLSSYVSINS
NTGILYALCS FDYEQFRDLQ LLMTASDSGD PPLSSNVSLS LFVLDQNDNV PEILYPTFPT
DGSTGVELAP RSADSGYLVT KVVAVDRDSG QNAWLSYSLL KSSEPGLFAV GLHTGEVRTA
RALLDRDALK QRLVVVVQDH GQPPLSATVT LTVAVADSIP DVLADLGSLK PSADPDDSGL
TLYLVVAVAA VSCVFLAFVT VLLALKLRRW HKSRLLHAEG SRLAGVPASH FVGVDGVRAF
LQTYSHEVSL TADSRKSHLI FSQPSYADTL ISRESCEKSE PLLITQDLLE TKGDPNLQQA
PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN NQFDTEMLQA MILASASEAA DGSSTLGGGA
GTMGLSARYG PQFTLQHVPD YRQNVYIPGS NATLTNAAGK RDGKAPAGGN GNKKKSGKKE
KK
