PCDG7_HUMAN
ID PCDG7_HUMAN Reviewed; 932 AA.
AC Q9Y5G6; B2RN87; Q9Y5D0;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Protocadherin gamma-A7;
DE Short=PCDH-gamma-A7;
DE Flags: Precursor;
GN Name=PCDHGA7;
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].
RA Mural R.J., Istrail S., Sutton G.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).
RC TISSUE=Brain;
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=Q9Y5G6-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G6-2; Sequence=VSP_008671, VSP_008672;
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DR EMBL; AF152327; AAD43721.1; -; mRNA.
DR EMBL; AF152514; AAD43774.1; -; mRNA.
DR EMBL; CH471062; EAW61943.1; -; Genomic_DNA.
DR EMBL; BC136747; AAI36748.1; -; mRNA.
DR EMBL; BC136748; AAI36749.1; -; mRNA.
DR CCDS; CCDS54927.1; -. [Q9Y5G6-1]
DR CCDS; CCDS75336.1; -. [Q9Y5G6-2]
DR RefSeq; NP_061743.1; NM_018920.3. [Q9Y5G6-1]
DR RefSeq; NP_114476.1; NM_032087.2. [Q9Y5G6-2]
DR AlphaFoldDB; Q9Y5G6; -.
DR SMR; Q9Y5G6; -.
DR BioGRID; 121048; 22.
DR IntAct; Q9Y5G6; 4.
DR MINT; Q9Y5G6; -.
DR GlyGen; Q9Y5G6; 2 sites.
DR iPTMnet; Q9Y5G6; -.
DR PhosphoSitePlus; Q9Y5G6; -.
DR BioMuta; PCDHGA7; -.
DR DMDM; 37999836; -.
DR jPOST; Q9Y5G6; -.
DR MassIVE; Q9Y5G6; -.
DR MaxQB; Q9Y5G6; -.
DR PaxDb; Q9Y5G6; -.
DR PeptideAtlas; Q9Y5G6; -.
DR PRIDE; Q9Y5G6; -.
DR ProteomicsDB; 86373; -. [Q9Y5G6-1]
DR ProteomicsDB; 86374; -. [Q9Y5G6-2]
DR Antibodypedia; 57473; 20 antibodies from 4 providers.
DR DNASU; 56108; -.
DR Ensembl; ENST00000518325.2; ENSP00000430024.1; ENSG00000253537.3. [Q9Y5G6-1]
DR Ensembl; ENST00000617050.1; ENSP00000477805.1; ENSG00000253537.3. [Q9Y5G6-2]
DR GeneID; 56108; -.
DR KEGG; hsa:56108; -.
DR MANE-Select; ENST00000518325.2; ENSP00000430024.1; NM_018920.4; NP_061743.1.
DR UCSC; uc003ljz.3; human. [Q9Y5G6-1]
DR CTD; 56108; -.
DR DisGeNET; 56108; -.
DR GeneCards; PCDHGA7; -.
DR HGNC; HGNC:8705; PCDHGA7.
DR HPA; ENSG00000253537; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606294; gene.
DR neXtProt; NX_Q9Y5G6; -.
DR OpenTargets; ENSG00000253537; -.
DR PharmGKB; PA33053; -.
DR VEuPathDB; HostDB:ENSG00000253537; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164742; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5G6; -.
DR OMA; TASIHVT; -.
DR OrthoDB; 222156at2759; -.
DR PhylomeDB; Q9Y5G6; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G6; -.
DR SignaLink; Q9Y5G6; -.
DR SIGNOR; Q9Y5G6; -.
DR BioGRID-ORCS; 56108; 16 hits in 1017 CRISPR screens.
DR GenomeRNAi; 56108; -.
DR Pharos; Q9Y5G6; Tdark.
DR PRO; PR:Q9Y5G6; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G6; protein.
DR Bgee; ENSG00000253537; Expressed in stromal cell of endometrium and 103 other tissues.
DR Genevisible; Q9Y5G6; 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 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; 4.
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..932
FT /note="Protocadherin gamma-A7"
FT /id="PRO_0000003960"
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..932
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 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 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..817
FT /note="QAPPNTDWR -> VSPALPLFP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008671"
FT VAR_SEQ 818..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008672"
FT VARIANT 188
FT /note="E -> G (in dbSNP:rs2072315)"
FT /id="VAR_048561"
FT VARIANT 212
FT /note="L -> F (in dbSNP:rs2240698)"
FT /id="VAR_048562"
FT VARIANT 239
FT /note="T -> M (in dbSNP:rs17097251)"
FT /id="VAR_048563"
SQ SEQUENCE 932 AA; 101722 MW; 9614AE69C0CA2371 CRC64;
MAAQPRGGDY RGFFLLSILL GTPWEAWAGR ILYSVSEETD KGSFVGDIAK DLGLEPRELA
ERGVRIISRG RTQLFALNQR SGSLVTAGRI DREEICAQSA RCLVNFNILM EDKMNLYPID
VEIIDINDNV PRFLTEEINV KIMENTAPGV RFPLSEAGDP DVGTNSLQSY QLSPNRHFSL
AVQSGDDETK YPELVLERVL DREEERVHHL VLTASDGGDP PRSSTAHIQV TVVDVNDHTP
VFSLPQYQVT VPENVPVGTR LLTVHAIDLD EGVNGEVTYS FRKITPKLPK MFHLNSLTGE
ISTLEGLDYE ETAFYEMEVQ AQDGPGSLTK AKVLITVLDV NDNAPEVTMT SLSSSIPEDT
PLGTVIALFY LQDRDSGKNG EVTCTIPENL PFKLEKSIDN YYRLVTTKNL DRETLSLYNI
TLKATDGGTP PLSRETHIFM QVADTNDNPP TFPHSSYSVY IAENNPRGAS IFLVTAQDHD
SEDNAQITYS LAEDTIQGAP VSSYVSINSD TGVLYALQSF DYEQLRELQL RVTAHDSGDP
PLSSNMSLSL FVLDQNDNPP EILYPALPTD GSTGMELAPR SAEPGYLVTK VVAVDKDSGQ
NAWLSYLLLK ASEPGLFAVG LYTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADSIPE VLADLGSLEP SDGPYNYDLT LYLVVAVATV SCVFLAFVLV LLALRLRRWH
KSRLLQASEG GLANVPTSHF VGMDGVQAFL QTYSHEVSLT ADSRKSHLIF PQPNYVDMLI
SQESCEKNDS LLTSVDFQEC KENLPSIQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK