PCDGD_HUMAN
ID PCDGD_HUMAN Reviewed; 927 AA.
AC Q9Y5G3; Q3SY75; Q9Y5C8;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Protocadherin gamma-B1;
DE Short=PCDH-gamma-B1;
DE Flags: Precursor;
GN Name=PCDHGB1;
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).
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 -!- INTERACTION:
CC Q9Y5G3-2; P42858: HTT; NbExp=3; IntAct=EBI-21584477, EBI-466029;
CC Q9Y5G3-2; O76024: WFS1; NbExp=3; IntAct=EBI-21584477, EBI-720609;
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=Q9Y5G3-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G3-2; Sequence=VSP_008684, VSP_008685;
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DR EMBL; AF152330; AAD43724.1; -; mRNA.
DR EMBL; AF152517; AAD43777.1; -; mRNA.
DR EMBL; CH471062; EAW61955.1; -; Genomic_DNA.
DR EMBL; BC103926; AAI03927.1; -; mRNA.
DR EMBL; BC103927; AAI03928.1; -; mRNA.
DR CCDS; CCDS54923.1; -. [Q9Y5G3-1]
DR CCDS; CCDS75330.1; -. [Q9Y5G3-2]
DR RefSeq; NP_061745.1; NM_018922.2. [Q9Y5G3-1]
DR RefSeq; NP_115266.1; NM_032095.1. [Q9Y5G3-2]
DR AlphaFoldDB; Q9Y5G3; -.
DR SMR; Q9Y5G3; -.
DR BioGRID; 121044; 81.
DR IntAct; Q9Y5G3; 71.
DR STRING; 9606.ENSP00000429273; -.
DR GlyConnect; 1686; 4 N-Linked glycans (1 site).
DR GlyGen; Q9Y5G3; 5 sites, 3 N-linked glycans (1 site).
DR iPTMnet; Q9Y5G3; -.
DR PhosphoSitePlus; Q9Y5G3; -.
DR BioMuta; PCDHGB1; -.
DR DMDM; 37999833; -.
DR jPOST; Q9Y5G3; -.
DR MassIVE; Q9Y5G3; -.
DR MaxQB; Q9Y5G3; -.
DR PaxDb; Q9Y5G3; -.
DR PeptideAtlas; Q9Y5G3; -.
DR PRIDE; Q9Y5G3; -.
DR TopDownProteomics; Q9Y5G3-2; -. [Q9Y5G3-2]
DR Antibodypedia; 56126; 100 antibodies from 14 providers.
DR DNASU; 56104; -.
DR Ensembl; ENST00000523390.2; ENSP00000429273.1; ENSG00000254221.3. [Q9Y5G3-1]
DR Ensembl; ENST00000611598.1; ENSP00000478900.1; ENSG00000254221.3. [Q9Y5G3-2]
DR GeneID; 56104; -.
DR KEGG; hsa:56104; -.
DR MANE-Select; ENST00000523390.2; ENSP00000429273.1; NM_018922.3; NP_061745.1.
DR UCSC; uc003ljo.3; human. [Q9Y5G3-1]
DR CTD; 56104; -.
DR GeneCards; PCDHGB1; -.
DR HGNC; HGNC:8708; PCDHGB1.
DR HPA; ENSG00000254221; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606299; gene.
DR neXtProt; NX_Q9Y5G3; -.
DR PharmGKB; PA33056; -.
DR VEuPathDB; HostDB:ENSG00000254221; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163837; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5G3; -.
DR OMA; FEMVAEN; -.
DR OrthoDB; 385992at2759; -.
DR PhylomeDB; Q9Y5G3; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G3; -.
DR SignaLink; Q9Y5G3; -.
DR SIGNOR; Q9Y5G3; -.
DR BioGRID-ORCS; 56104; 9 hits in 1017 CRISPR screens.
DR GenomeRNAi; 56104; -.
DR Pharos; Q9Y5G3; Tdark.
DR PRO; PR:Q9Y5G3; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G3; protein.
DR Bgee; ENSG00000254221; Expressed in cortical plate and 94 other tissues.
DR Genevisible; Q9Y5G3; HS.
DR GO; GO:0030426; C:growth cone; IEA:Ensembl.
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..28
FT /evidence="ECO:0000255"
FT CHAIN 29..927
FT /note="Protocadherin gamma-B1"
FT /id="PRO_0000003972"
FT TOPO_DOM 29..687
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 688..708
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 709..927
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 29..130
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 131..239
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 240..343
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 344..448
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 449..558
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 566..671
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 797..836
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 897..927
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 801..836
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 73
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 300
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 415
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 541
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 804..810
FT /note="QAPPNTD -> VSFCKSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008684"
FT VAR_SEQ 811..927
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008685"
SQ SEQUENCE 927 AA; 100360 MW; 629DE8511F038741 CRC64;
MQRAREAEMM KSQVLFPFLL SLFCGAISQQ IRYTIPEELA NGSRVGKLAK DLGLSVRELP
TRKLRVSAED YFNVSLESGD LLVNGRIDRE KICGRKLECA LEFETVAENP MNVFHVVVVI
QDINDNAPRF VAKGIDLEIC ESALPGVKFS LDSAQDADVE GNSLKLYTIN PNQYFSLSTK
ESPDGSKYPV LLLEKPLDRE HQSSHRLILT AMDGGDPPLS GTTHIWIRVT DANDNAPVFS
QEVYRVSLQE NVPWGTSVLR VMATDQDEGI NAEITYAFLN SPISTSLFNL NPNTGDITTN
GTLDFEETSR YVLSVEAKDG GVHTAHCNVQ IEIVDENDNA PEVTFMSFSN QIPEDSDLGT
VIALIKVRDK DSGQNGMVTC YTQEEVPFKL ESTSKNYYKL VIAGALNREQ TADYNVTIIA
TDKGKPALSS RTSITLHISD INDNAPVFHQ ASYVVHVSEN NPPGASIAQV SASDPDLGPN
GRVSYSILAS DLEPRELLSY VSVSPQSGVV FAQRAFDHEQ LRAFELTLQA RDQGSPALSA
NVSLRVLVGD LNDNAPRVLY PALGPDGSAL FDMVPRAAEP GYLVTKVVAV DADSGHNAWL
SYHVLQASEP GLFSLGLRTG EVRTARALGD RDAARQRLLV AVRDGGQPPL SATATLHLIF
ADSLQEVLPD LSDRPEPSDP QTELQFYLVV ALALISVLFL LAVILAIALR LRRSSSLDTE
GCFQTGLCSK SGPGVPPNHS EGTLPYSYNL CIASHSAKTE FNSLNLTPEM APPQDLLCDD
PSMVVCASNE DHKIAYDPSL SSHQAPPNTD WRFSQAQRPG TSGSQNGDDT GTWPNNQFDT
EMLQAMILAS ASEAADGSST LGGGAGTMGL SARYGPQFTL QHVPDYRQNV YIPGSNATLT
NAAGKRDGKA PAGGNGNKKK SGKKEKK
