PCDB9_HUMAN
ID PCDB9_HUMAN Reviewed; 797 AA.
AC Q9Y5E1; Q2M2U8; Q496X9; Q9NRJ8;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 3.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Protocadherin beta-9;
DE Short=PCDH-beta-9;
DE AltName: Full=Protocadherin-3H;
DE Flags: Precursor;
GN Name=PCDHB9; Synonyms=PCDH3H;
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], AND VARIANT ALA-239.
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 SEQUENCE REVISION.
RA Wu Q., Maniatis T.;
RL Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS SER-124; ALA-239 AND MET-426.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-239.
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-536, AND VARIANTS SER-124; ALA-239
RP AND MET-426.
RA Kools P.F.J., van Roy F.;
RT "Molecular analysis of the human protocadherin-3 (PCDH-beta) gene
RT cluster.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
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; AF152502; AAD43763.2; -; mRNA.
DR EMBL; AF217749; AAF81913.1; -; mRNA.
DR EMBL; BC100672; AAI00673.1; -; mRNA.
DR EMBL; BC105636; AAI05637.1; -; mRNA.
DR EMBL; BC105640; AAI05641.1; -; mRNA.
DR EMBL; AF282973; AAG10032.1; -; Genomic_DNA.
DR CCDS; CCDS75328.1; -.
DR RefSeq; NP_061992.3; NM_019119.4.
DR AlphaFoldDB; Q9Y5E1; -.
DR BioGRID; 121067; 1.
DR STRING; 9606.ENSP00000478606; -.
DR GlyConnect; 1685; 1 N-Linked glycan (1 site).
DR GlyGen; Q9Y5E1; 3 sites, 1 N-linked glycan (1 site).
DR iPTMnet; Q9Y5E1; -.
DR PhosphoSitePlus; Q9Y5E1; -.
DR BioMuta; PCDHB9; -.
DR DMDM; 13431372; -.
DR jPOST; Q9Y5E1; -.
DR MassIVE; Q9Y5E1; -.
DR PeptideAtlas; Q9Y5E1; -.
DR PRIDE; Q9Y5E1; -.
DR ProteomicsDB; 86340; -.
DR Antibodypedia; 77164; 1 antibodies from 1 providers.
DR DNASU; 56127; -.
DR Ensembl; ENST00000316105.7; ENSP00000478606.1; ENSG00000177839.7.
DR GeneID; 56127; -.
DR KEGG; hsa:56127; -.
DR MANE-Select; ENST00000316105.7; ENSP00000478606.1; NM_019119.5; NP_061992.3.
DR UCSC; uc032vnm.2; human.
DR CTD; 56127; -.
DR DisGeNET; 56127; -.
DR GeneCards; PCDHB9; -.
DR HGNC; HGNC:8694; PCDHB9.
DR HPA; ENSG00000177839; Low tissue specificity.
DR MIM; 604967; gene.
DR MIM; 606335; gene.
DR neXtProt; NX_Q9Y5E1; -.
DR OpenTargets; ENSG00000177839; -.
DR PharmGKB; PA33043; -.
DR VEuPathDB; HostDB:ENSG00000177839; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163508; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5E1; -.
DR OrthoDB; 300321at2759; -.
DR PathwayCommons; Q9Y5E1; -.
DR BioGRID-ORCS; 56127; 10 hits in 189 CRISPR screens.
DR GeneWiki; PCDHB9; -.
DR GenomeRNAi; 56127; -.
DR Pharos; Q9Y5E1; Tdark.
DR PRO; PR:Q9Y5E1; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5E1; protein.
DR Bgee; ENSG00000177839; Expressed in ganglionic eminence and 103 other tissues.
DR ExpressionAtlas; Q9Y5E1; baseline and differential.
DR Genevisible; Q9Y5E1; 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: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 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; 6.
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..26
FT /evidence="ECO:0000255"
FT CHAIN 27..797
FT /note="Protocadherin beta-9"
FT /id="PRO_0000003930"
FT TOPO_DOM 27..690
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 691..711
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 712..797
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 35..133
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 138..242
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 247..347
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 352..451
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 456..561
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 568..671
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 777..797
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 169
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 418
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 567
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 124
FT /note="R -> S (in dbSNP:rs2740588)"
FT /evidence="ECO:0000269|PubMed:11322959, ECO:0000269|Ref.5"
FT /id="VAR_061064"
FT VARIANT 174
FT /note="S -> P (in dbSNP:rs11167742)"
FT /id="VAR_059186"
FT VARIANT 185
FT /note="S -> G (in dbSNP:rs17844512)"
FT /id="VAR_061065"
FT VARIANT 239
FT /note="V -> A (in dbSNP:rs11167743)"
FT /evidence="ECO:0000269|PubMed:10380929,
FT ECO:0000269|PubMed:11322959, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.5"
FT /id="VAR_059187"
FT VARIANT 414
FT /note="K -> E (in dbSNP:rs10040383)"
FT /id="VAR_061066"
FT VARIANT 426
FT /note="L -> M (in dbSNP:rs2697530)"
FT /evidence="ECO:0000269|PubMed:11322959, ECO:0000269|Ref.5"
FT /id="VAR_061067"
SQ SEQUENCE 797 AA; 87127 MW; B966A828EA90376B CRC64;
MKTRGFSFPR QRQVLFLFLF WGVSLAGSGF GRYSVTEETE KGSFVVNLAK DLGLAEGELA
ARGTRVVSDD NKQYLLLDSH TGNLLTNEKL DREKLCGPKE PCMLYFQILM DDPFQIYRAE
LRVRDINDHS PVFRHKEMVL KISENTAEGT AFRLERAQDP DEGHNSIQNY TISSNSFFHI
KISGSDEGMI YPELVLDKAL DREEQEELSL TLTALDGGSP SRSGTSTIRI VVLDVNDNVP
QFAQALYETQ APENSPVGSL IVKVSAGDAD SGVNAEVSYS FFDASEDILT TFQINPFSGE
IFLRELLDYE LVNSYKINIQ AMDGGGLSAR CTVLIKVLDS NDNPPELIIS SLSNSVAENS
PGIVLAVFKI KDRDSGENGK TICYVQDNLP FFLKPSVDNF YILMTEGALD RESKAEYNIT
ITVTDLGTPR LKTEHSITLQ VSDVNDNAPA FTQTSYTLFV RENNSPALHI GSVSATDRDS
GTNAQVTYSL LPPQDPHLPL ASLVSINADN GHLFALRSLD YEALQAFDFR VGASDRGSPA
LSSEALVRVL VLDANDNSPF VLYPLQNGSA PCTELVPRAA EPGYLVTKVV AVDGDSGQNA
WLSYQLLKAT EPGLFGVWAH NGEVRTARLL SERDAAKHRL VVLVKDNGEP PRSATATLHV
LLVDGFSQPY LPLPEAAPAQ AQADLLTVYL VVALASVSSL FLLSVLLFVA VRLCRRSRAA
SVGRCSVPEG PFPGHLVDVS GTGTLFQSYQ YEVCLTGGSE TGEFKFLKPI TPHLPPHRGG
KEIEENSTLP NSFGFNY
