PCDGI_HUMAN
ID PCDGI_HUMAN Reviewed; 930 AA.
AC Q9Y5F9; Q9Y5C5;
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-B6;
DE Short=PCDH-gamma-B6;
DE Flags: Precursor;
GN Name=PCDHGB6;
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).
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=Q9Y5F9-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5F9-2; Sequence=VSP_008694, VSP_008695;
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DR EMBL; AF152335; AAD43729.1; -; mRNA.
DR EMBL; AF152522; AAD43782.1; -; mRNA.
DR CCDS; CCDS54929.1; -. [Q9Y5F9-1]
DR CCDS; CCDS75342.1; -. [Q9Y5F9-2]
DR RefSeq; NP_061749.1; NM_018926.2. [Q9Y5F9-1]
DR RefSeq; NP_115271.1; NM_032100.1. [Q9Y5F9-2]
DR AlphaFoldDB; Q9Y5F9; -.
DR SMR; Q9Y5F9; -.
DR BioGRID; 121040; 11.
DR STRING; 9606.ENSP00000428603; -.
DR GlyGen; Q9Y5F9; 3 sites.
DR iPTMnet; Q9Y5F9; -.
DR PhosphoSitePlus; Q9Y5F9; -.
DR BioMuta; PCDHGB6; -.
DR DMDM; 37999829; -.
DR jPOST; Q9Y5F9; -.
DR MassIVE; Q9Y5F9; -.
DR MaxQB; Q9Y5F9; -.
DR PaxDb; Q9Y5F9; -.
DR PeptideAtlas; Q9Y5F9; -.
DR PRIDE; Q9Y5F9; -.
DR Antibodypedia; 57507; 13 antibodies from 5 providers.
DR DNASU; 56100; -.
DR Ensembl; ENST00000520790.2; ENSP00000428603.1; ENSG00000253305.3. [Q9Y5F9-1]
DR Ensembl; ENST00000616430.1; ENSP00000479143.1; ENSG00000253305.3. [Q9Y5F9-2]
DR GeneID; 56100; -.
DR KEGG; hsa:56100; -.
DR MANE-Select; ENST00000520790.2; ENSP00000428603.1; NM_018926.3; NP_061749.1.
DR UCSC; uc003lki.2; human. [Q9Y5F9-1]
DR CTD; 56100; -.
DR DisGeNET; 56100; -.
DR GeneCards; PCDHGB6; -.
DR HGNC; HGNC:8713; PCDHGB6.
DR HPA; ENSG00000253305; Low tissue specificity.
DR MIM; 604968; gene.
DR MIM; 606303; gene.
DR neXtProt; NX_Q9Y5F9; -.
DR OpenTargets; ENSG00000253305; -.
DR PharmGKB; PA33061; -.
DR VEuPathDB; HostDB:ENSG00000253305; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000165737; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5F9; -.
DR OMA; DPDINTN; -.
DR OrthoDB; 305110at2759; -.
DR PhylomeDB; Q9Y5F9; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5F9; -.
DR SIGNOR; Q9Y5F9; -.
DR BioGRID-ORCS; 56100; 9 hits in 1021 CRISPR screens.
DR GenomeRNAi; 56100; -.
DR Pharos; Q9Y5F9; Tdark.
DR PRO; PR:Q9Y5F9; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5F9; protein.
DR Bgee; ENSG00000253305; Expressed in ganglionic eminence and 89 other tissues.
DR Genevisible; Q9Y5F9; 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..30
FT /evidence="ECO:0000255"
FT CHAIN 31..930
FT /note="Protocadherin gamma-B6"
FT /id="PRO_0000003981"
FT TOPO_DOM 31..691
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 692..712
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 713..930
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 31..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..675
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 791..839
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 900..930
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 799..839
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 304
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 VAR_SEQ 807..820
FT /note="QAPPNTDWRFSQAQ -> VSFSFLCVIYLIVY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008694"
FT VAR_SEQ 821..930
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008695"
FT VARIANT 684
FT /note="P -> S (in dbSNP:rs3749768)"
FT /id="VAR_021883"
FT VARIANT 722
FT /note="A -> T (in dbSNP:rs3749767)"
FT /id="VAR_021884"
FT VARIANT 775
FT /note="S -> A (in dbSNP:rs6891442)"
FT /id="VAR_048572"
SQ SEQUENCE 930 AA; 101043 MW; 274409FD35D18E6E CRC64;
MGGSCAQRRR AGPRQVLFPL LLPLFYPTLS EPIRYSIPEE LAKGSVVGNL AKDLGLSVLD
VSARKLRVSA EKLHFSVDAE SGDLLVKNRI DREQICKERR RCELQLEAVV ENPLNIFHVI
VVIEDVNDHA PQFDKKEIHL EIFESASAGT RLSLDPATDP DININSIKDY KINSNPYFSL
MVRVNSDGGK YPELSLEKLL DREEQRSHSL ILTALDGGDP PRSATAHIEI SVKDTNDNPP
VFSRDEYRIS LSENLPPGSP VLQVTATDQD EGVNAEINYY FRSTAQSTKH MFSLDEKTGM
IKNNQSFDFE DVERYTMEVE AKDGGGLSTQ CKVIIEILDE NDNSPEIIIT SLSDQILENS
PPGMVVALFK TRDLDFGGNG EVRCNIETDI PFKIYSSSNN YYKLVTDGAL DREQTPEYNV
TIVATDRGKP PLSSSRSITL YVADINDNAP VFDQTSYVVH VAENNPPGAS IAQVSASDPD
LGLNGHISYS IVASDLEPLA VSSYVSVSAQ SGVVFAQRAF DHEQLRAFAL TLQARDHGSP
TLSANVSLRV LVGDRNDNAP RVLYPALGPD GSAFFDMVPR SAEPGYLVTK VVAVDADSGH
NAWLSYHVLQ ASEPGLFSLG LRTGEVRTAR ALGDRDAARQ RLLVAVRDGG QPPLSATATL
HLVFADNLQE ILPDLSDRPV LSDPQAELQF YLVVALALIS VLFLLAVILA IALRLRRSLS
PATWDCFHPG LCVKSGPVVP PNYSEGTLPY SYNLCIAHTG TKEFNFLKCS VPLHSNEDMV
CSVSPGALIP PHGGEDLTSH PETLTSQAPP NTDWRFSQAQ RPGTSGSQNG DDTGTWPNNQ
FDTEMLQAMI LASASEAADG SSTLGGGAGT MGLSARYGPQ FTLQHVPDYR QNVYIPGSNA
TLTNAAGKRD GKAPAGGNGN KKKSGKKEKK
