PCDG8_HUMAN
ID PCDG8_HUMAN Reviewed; 932 AA.
AC Q9Y5G5; A7MCZ4; O15039;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Protocadherin gamma-A8;
DE Short=PCDH-gamma-A8;
DE Flags: Precursor;
GN Name=PCDHGA8; Synonyms=KIAA0327;
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 MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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=Q9Y5G5-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G5-2; Sequence=VSP_008673, VSP_008674;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20785.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF152328; AAD43722.1; -; mRNA.
DR EMBL; AF152515; AAD43775.1; -; mRNA.
DR EMBL; AB002325; BAA20785.2; ALT_INIT; mRNA.
DR EMBL; CH471062; EAW61942.1; -; Genomic_DNA.
DR EMBL; BC152415; AAI52416.1; -; mRNA.
DR CCDS; CCDS47291.1; -. [Q9Y5G5-1]
DR CCDS; CCDS75338.1; -. [Q9Y5G5-2]
DR RefSeq; NP_054723.1; NM_014004.2. [Q9Y5G5-2]
DR RefSeq; NP_114477.1; NM_032088.1. [Q9Y5G5-1]
DR AlphaFoldDB; Q9Y5G5; -.
DR SMR; Q9Y5G5; -.
DR BioGRID; 115059; 3.
DR IntAct; Q9Y5G5; 1.
DR STRING; 9606.ENSP00000381605; -.
DR GlyGen; Q9Y5G5; 5 sites.
DR iPTMnet; Q9Y5G5; -.
DR PhosphoSitePlus; Q9Y5G5; -.
DR BioMuta; PCDHGA8; -.
DR DMDM; 37999835; -.
DR jPOST; Q9Y5G5; -.
DR MassIVE; Q9Y5G5; -.
DR MaxQB; Q9Y5G5; -.
DR PaxDb; Q9Y5G5; -.
DR PeptideAtlas; Q9Y5G5; -.
DR PRIDE; Q9Y5G5; -.
DR ProteomicsDB; 86371; -. [Q9Y5G5-1]
DR ProteomicsDB; 86372; -. [Q9Y5G5-2]
DR Antibodypedia; 56132; 97 antibodies from 18 providers.
DR DNASU; 9708; -.
DR Ensembl; ENST00000398604.3; ENSP00000381605.2; ENSG00000253767.3. [Q9Y5G5-1]
DR Ensembl; ENST00000610569.1; ENSP00000483161.1; ENSG00000253767.3. [Q9Y5G5-2]
DR GeneID; 9708; -.
DR KEGG; hsa:9708; -.
DR MANE-Select; ENST00000398604.3; ENSP00000381605.2; NM_032088.2; NP_114477.1.
DR UCSC; uc003lkb.5; human. [Q9Y5G5-1]
DR CTD; 9708; -.
DR GeneCards; PCDHGA8; -.
DR HGNC; HGNC:8706; PCDHGA8.
DR HPA; ENSG00000253767; Tissue enriched (brain).
DR MIM; 604968; gene.
DR MIM; 606295; gene.
DR neXtProt; NX_Q9Y5G5; -.
DR OpenTargets; ENSG00000253767; -.
DR PharmGKB; PA33054; -.
DR VEuPathDB; HostDB:ENSG00000253767; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164488; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5G5; -.
DR OMA; QVVCYTH; -.
DR OrthoDB; 260275at2759; -.
DR PhylomeDB; Q9Y5G5; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G5; -.
DR SignaLink; Q9Y5G5; -.
DR SIGNOR; Q9Y5G5; -.
DR BioGRID-ORCS; 9708; 11 hits in 1006 CRISPR screens.
DR ChiTaRS; PCDHGA8; human.
DR GenomeRNAi; 9708; -.
DR Pharos; Q9Y5G5; Tdark.
DR PRO; PR:Q9Y5G5; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G5; protein.
DR Bgee; ENSG00000253767; Expressed in buccal mucosa cell and 73 other tissues.
DR Genevisible; Q9Y5G5; 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; 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-A8"
FT /id="PRO_0000003962"
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 804..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 807..841
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 47
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 414
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..820
FT /note="QAPPNTDWRFSQ -> VSLVLCLLLISR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9205841"
FT /id="VSP_008673"
FT VAR_SEQ 821..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:9205841"
FT /id="VSP_008674"
FT VARIANT 16
FT /note="L -> R (in dbSNP:rs726684)"
FT /id="VAR_048564"
FT VARIANT 187
FT /note="N -> K (in dbSNP:rs11575958)"
FT /id="VAR_061070"
SQ SEQUENCE 932 AA; 101480 MW; 6234C316CD770337 CRC64;
MAAPQSRPRR GELILLCALL GTLWEIGRGQ IRYSVPEETD KGSFVGNISK DLGLDPRKLA
KHGVRIVSRG RTQLFALNPR SGSLITAGRI DREELCAQSP RCLININTLV EDKGKLFGVE
IEIIDINDNN PKFQVEDLEV KINEIAVPGA RYPLPEAVDP DVGVNSLQSY QLSPNHHFSL
DVQTGDNGAI NPELVLERAL DREEEAAHHL VLTASDGGKP PRSSTVRIHV TVLDTNDNAP
VFPHPIYRVK VLENMPPGTR LLTVTASDPD EGINGKVAYK FRKINEKQTP LFQLNENTGE
ISIAKSLDYE ECSFYEMEIQ AEDVGALLGR TKLLISVEDV NDNRPEVIIT SLFSPVLENS
LPGTVIAFLS VHDQDSGKNG QVVCYTRDNL PFKLEKSIGN YYRLVTRKYL DRENVSIYNI
TVMASDLGTP PLSTETQIAL HVADINDNPP TFPHASYSAY ILENNLRGAS IFSLTAHDPD
SQENAQVTYS VTEDTLQGAP LSSYISINSD TGVLYALQSF DYEQIRDLQL LVTASDSGDP
PLSSNMSLSL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAERGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADSIPE VLTELGSLKP SVDPNDSSLT LYLVVAVAAI SCVFLAFVAV LLGLRLRRWH
KSRLLQDSGG RLVGVPASHF VGVEEVQAFL QTYSQEVSLT ADSRKSHLIF PQPNYADMLI
SQEGCEKNDS LLTSVDFHEY KNEADHGQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
