PCDG6_HUMAN
ID PCDG6_HUMAN Reviewed; 932 AA.
AC Q9Y5G7; A6H8K7; B2RN55; Q9Y5D1;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Protocadherin gamma-A6;
DE Short=PCDH-gamma-A6;
DE Flags: Precursor;
GN Name=PCDHGA6;
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] (ISOFORMS 1 AND 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=Q9Y5G7-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G7-2; Sequence=VSP_008669, VSP_008670;
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DR EMBL; AF152326; AAD43720.1; -; mRNA.
DR EMBL; AF152513; AAD43773.1; -; mRNA.
DR EMBL; CH471062; EAW61931.1; -; Genomic_DNA.
DR EMBL; CH471062; EAW61929.1; -; Genomic_DNA.
DR EMBL; BC136702; AAI36703.1; -; mRNA.
DR EMBL; BC136703; AAI36704.1; -; mRNA.
DR EMBL; BC146651; AAI46652.1; -; mRNA.
DR CCDS; CCDS54926.1; -. [Q9Y5G7-1]
DR CCDS; CCDS75335.1; -. [Q9Y5G7-2]
DR RefSeq; NP_061742.1; NM_018919.2. [Q9Y5G7-1]
DR RefSeq; NP_114475.1; NM_032086.1. [Q9Y5G7-2]
DR AlphaFoldDB; Q9Y5G7; -.
DR SMR; Q9Y5G7; -.
DR BioGRID; 121049; 25.
DR STRING; 9606.ENSP00000429601; -.
DR GlyGen; Q9Y5G7; 4 sites.
DR iPTMnet; Q9Y5G7; -.
DR PhosphoSitePlus; Q9Y5G7; -.
DR BioMuta; PCDHGA6; -.
DR DMDM; 37999837; -.
DR jPOST; Q9Y5G7; -.
DR MassIVE; Q9Y5G7; -.
DR MaxQB; Q9Y5G7; -.
DR PaxDb; Q9Y5G7; -.
DR PeptideAtlas; Q9Y5G7; -.
DR PRIDE; Q9Y5G7; -.
DR ProteomicsDB; 86375; -. [Q9Y5G7-1]
DR ProteomicsDB; 86376; -. [Q9Y5G7-2]
DR Antibodypedia; 56129; 16 antibodies from 9 providers.
DR DNASU; 56109; -.
DR Ensembl; ENST00000517434.3; ENSP00000429601.2; ENSG00000253731.3. [Q9Y5G7-1]
DR Ensembl; ENST00000610583.1; ENSP00000479478.1; ENSG00000253731.3. [Q9Y5G7-2]
DR GeneID; 56109; -.
DR KEGG; hsa:56109; -.
DR MANE-Select; ENST00000517434.3; ENSP00000429601.2; NM_018919.3; NP_061742.1.
DR UCSC; uc003ljy.3; human. [Q9Y5G7-1]
DR CTD; 56109; -.
DR GeneCards; PCDHGA6; -.
DR HGNC; HGNC:8704; PCDHGA6.
DR HPA; ENSG00000253731; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606293; gene.
DR neXtProt; NX_Q9Y5G7; -.
DR OpenTargets; ENSG00000253731; -.
DR PharmGKB; PA33052; -.
DR VEuPathDB; HostDB:ENSG00000253731; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164471; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5G7; -.
DR OMA; QEDSAFC; -.
DR OrthoDB; 222156at2759; -.
DR PhylomeDB; Q9Y5G7; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G7; -.
DR SIGNOR; Q9Y5G7; -.
DR BioGRID-ORCS; 56109; 11 hits in 1021 CRISPR screens.
DR GenomeRNAi; 56109; -.
DR Pharos; Q9Y5G7; Tdark.
DR PRO; PR:Q9Y5G7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G7; protein.
DR Bgee; ENSG00000253731; Expressed in cortical plate and 104 other tissues.
DR Genevisible; Q9Y5G7; 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-A6"
FT /id="PRO_0000003958"
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 806..841
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 81
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..818
FT /note="QAPPNTDWRF -> VSFFPPKREE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008669"
FT VAR_SEQ 819..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008670"
FT VARIANT 248
FT /note="R -> S (in dbSNP:rs11575953)"
FT /id="VAR_048560"
SQ SEQUENCE 932 AA; 100871 MW; 27035AFD1D9921C9 CRC64;
MAPPQRHPQR SEQVLLLTLL GTLWGAAAAQ IRYSIPEELE KGSFVGNIVK DLGLEPQELA
EHGVRIVSRG RMQLFSLNPR NGSLVTAGRI DREELCAQSP RCLVSFNILV EDKLNLYPVE
VEIVDINDNT PRFLKEELEV KILENAAPSS RFPLMEVYDP DVGMNSLQGF KLSGNSHFSV
DVQSEAHGPK YPELVLEGTL DREGEAVYRL VLTAMDGGDP VRSSVAQILV TVLDVNDNTP
MFTQPVYRVS VPENLPVGTP VLAVTATDQD EGVHGEVTYS FVKITEKISQ IFCLNVLTGE
ISTSANLDYE DSSFYELGVE ARDGPGLRDR AKVLITILDV NDNVPEVVVT SGSRTIAESA
PPGTVIALFQ VFDRDSGLNG LVTCSIPRSL PFELEKSVGN YYRLVTNAAL DREEVFLYNI
TVTATDKGTP PLSTETIISL NVADTNDNPP TFPHSSYSVY VLENNPRGAS IFSVNALDPD
VDQNAQVSYS LAEDTLQGAP LSSYVSINSD TGILYALRSF DYEQLRDLQL WVTASDSGDP
PLSSNVSLSL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAVADRIPD ILADLGSLEP SAKPNDSDLT LYLVVAVAAV SCVFLAFVIV LLALRLQRWH
KSRLLQASGG GLASMPGSHF VGVEGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
NQESYEKSEP LLITQDLLET KGEPRQLQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
