PCDB4_HUMAN
ID PCDB4_HUMAN Reviewed; 795 AA.
AC Q9Y5E5; Q4V761;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=Protocadherin beta-4;
DE Short=PCDH-beta-4;
DE Flags: Precursor;
GN Name=PCDHB4;
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].
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 [MRNA].
RX PubMed=11322959; DOI=10.1016/s0014-5793(01)02372-9;
RA Vanhalst K., Kools P., Vanden Eynde E., van Roy F.;
RT "The human and murine protocadherin-beta one-exon gene families show high
RT evolutionary conservation, despite the difference in gene number.";
RL FEBS Lett. 495:120-125(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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}.
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DR EMBL; AF152497; AAD43758.1; -; mRNA.
DR EMBL; AF217754; AAK51621.1; -; mRNA.
DR EMBL; BC098139; AAH98139.1; -; mRNA.
DR EMBL; BC098346; AAH98346.1; -; mRNA.
DR CCDS; CCDS4246.1; -.
DR RefSeq; NP_061761.1; NM_018938.3.
DR AlphaFoldDB; Q9Y5E5; -.
DR SMR; Q9Y5E5; -.
DR BioGRID; 121071; 2.
DR STRING; 9606.ENSP00000194152; -.
DR GlyGen; Q9Y5E5; 4 sites.
DR iPTMnet; Q9Y5E5; -.
DR PhosphoSitePlus; Q9Y5E5; -.
DR BioMuta; PCDHB4; -.
DR DMDM; 13431376; -.
DR EPD; Q9Y5E5; -.
DR jPOST; Q9Y5E5; -.
DR MassIVE; Q9Y5E5; -.
DR PaxDb; Q9Y5E5; -.
DR PeptideAtlas; Q9Y5E5; -.
DR PRIDE; Q9Y5E5; -.
DR ProteomicsDB; 86344; -.
DR TopDownProteomics; Q9Y5E5; -.
DR Antibodypedia; 2259; 33 antibodies from 10 providers.
DR DNASU; 56131; -.
DR Ensembl; ENST00000194152.4; ENSP00000194152.1; ENSG00000081818.4.
DR GeneID; 56131; -.
DR KEGG; hsa:56131; -.
DR MANE-Select; ENST00000194152.4; ENSP00000194152.1; NM_018938.4; NP_061761.1.
DR UCSC; uc003lip.3; human.
DR CTD; 56131; -.
DR DisGeNET; 56131; -.
DR GeneCards; PCDHB4; -.
DR HGNC; HGNC:8689; PCDHB4.
DR HPA; ENSG00000081818; Low tissue specificity.
DR MIM; 604967; gene.
DR MIM; 606330; gene.
DR neXtProt; NX_Q9Y5E5; -.
DR OpenTargets; ENSG00000081818; -.
DR PharmGKB; PA33038; -.
DR VEuPathDB; HostDB:ENSG00000081818; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000161185; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5E5; -.
DR OMA; FVHTPYG; -.
DR OrthoDB; 300321at2759; -.
DR PhylomeDB; Q9Y5E5; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5E5; -.
DR BioGRID-ORCS; 56131; 10 hits in 1028 CRISPR screens.
DR ChiTaRS; PCDHB4; human.
DR GeneWiki; PCDHB4; -.
DR GenomeRNAi; 56131; -.
DR Pharos; Q9Y5E5; Tdark.
DR PRO; PR:Q9Y5E5; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5E5; protein.
DR Bgee; ENSG00000081818; Expressed in calcaneal tendon and 127 other tissues.
DR Genevisible; Q9Y5E5; HS.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0016339; P:calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; NAS:UniProtKB.
DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; TAS:UniProtKB.
DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0007416; P:synapse assembly; TAS:UniProtKB.
DR InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR032455; Cadherin_C.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR InterPro; IPR030729; PCDHB4.
DR PANTHER; PTHR24028:SF55; PTHR24028:SF55; 1.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR Pfam; PF16492; Cadherin_C_2; 1.
DR PRINTS; PR00205; CADHERIN.
DR SMART; SM00112; CA; 5.
DR SUPFAM; SSF49313; SSF49313; 6.
DR PROSITE; PS00232; CADHERIN_1; 5.
DR PROSITE; PS50268; CADHERIN_2; 5.
PE 2: Evidence at transcript level;
KW Calcium; Cell adhesion; Cell membrane; Glycoprotein; Membrane;
KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..795
FT /note="Protocadherin beta-4"
FT /id="PRO_0000003920"
FT TOPO_DOM 28..689
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 690..710
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 711..795
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 34..132
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 137..241
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 246..346
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 351..450
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 455..560
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 567..670
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT CARBOHYD 183
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 417
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 435
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 566
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 168
FT /note="K -> R (in dbSNP:rs34350292)"
FT /id="VAR_048548"
FT VARIANT 255
FT /note="P -> L (in dbSNP:rs3733697)"
FT /id="VAR_048549"
FT VARIANT 255
FT /note="P -> S (in dbSNP:rs3733698)"
FT /id="VAR_048550"
FT VARIANT 421
FT /note="A -> T (in dbSNP:rs3776099)"
FT /id="VAR_021878"
FT VARIANT 553
FT /note="T -> A (in dbSNP:rs246669)"
FT /id="VAR_048551"
SQ SEQUENCE 795 AA; 87270 MW; 32A521247DD6A56F CRC64;
MKKLGRIHPN RQVLAFILMV FLSQVRLEPI RYSVLEETES GSFVAHLAKD LGLGIGELAS
RSARVLSDDD KQRLQLDRQT GDLLLREKLD REELCGPIEP CVLHFQVFLE MPVQFFQGEL
LIQDINDHSP IFPEREVLLK ILENSQPGTL FPLLIAEDLD VGSNGLQKYT ISPNSHFHIL
TRNHSEGKKY PDLVQDKPLD REEQPEFSLT LVALDGGSPP RSGTVMVRIL IMDINDNAPE
FVHTPYGVQV LENSPLDSPI VRVLARDIDA GNFGSVSYGL FQASDEIKQT FSINEVTGEI
LLKKKLDFEK IKSYHVEIEA TDGGGLSGKG TVVIEVVDVN DNPPELIISS LTSSIPENAP
ETVVSIFRIR DRDSGENGKM ICSIPDNLPF ILKPTLKNFY TLVTERPLDR ETSAEYNITI
AVTDLGTPRL KTQQNITVQV SDVNDNAPAF TQTSYTLFVR ENNSPALHIG SVSATDRDSG
TNAQVTYSLL PPQDPHLPLA SLVSINADNG HLFALRSLDY EALQAFEFRV GASDRGSPAL
SSEALVRVLV LDTNDNSPFV LYPLQNGSAP CTELVPRAAE PGYLVTKVVA VDGDSGQNAW
LSYQLLKATE PGLFGVWAHN GEVRTARLLS ERDAAKHRLV VLVKDNGEPP RSATATLHVL
LVDGFSQPYL PLPEAAPAQA QADSLTVYLV VALASVSSLF LFSVLLFVAV RLCRRSRAAS
VGRCSVPEGP FPGHLVDVSG TGTLSQSYQY EVCLTGDSGT GEFKFLKPIF PNLLVQDTGR
EVKENPKFRN SLVFS
