PCDG9_HUMAN
ID PCDG9_HUMAN Reviewed; 932 AA.
AC Q9Y5G4; A2RU65; Q9Y5C9;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Protocadherin gamma-A9;
DE Short=PCDH-gamma-A9;
DE Flags: Precursor;
GN Name=PCDHGA9;
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).
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 -!- INTERACTION:
CC Q9Y5G4-2; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-12202741, EBI-947187;
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=Q9Y5G4-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G4-2; Sequence=VSP_008675, VSP_008676;
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DR EMBL; AF152329; AAD43723.1; -; mRNA.
DR EMBL; AF152516; AAD43776.1; -; mRNA.
DR EMBL; CH471062; EAW61958.1; -; Genomic_DNA.
DR EMBL; BC132769; AAI32770.1; -; mRNA.
DR CCDS; CCDS58981.1; -. [Q9Y5G4-1]
DR CCDS; CCDS75341.1; -. [Q9Y5G4-2]
DR RefSeq; NP_061744.1; NM_018921.2. [Q9Y5G4-1]
DR RefSeq; NP_114478.1; NM_032089.1. [Q9Y5G4-2]
DR AlphaFoldDB; Q9Y5G4; -.
DR SMR; Q9Y5G4; -.
DR BioGRID; 121047; 31.
DR IntAct; Q9Y5G4; 5.
DR MINT; Q9Y5G4; -.
DR STRING; 9606.ENSP00000460274; -.
DR GlyGen; Q9Y5G4; 5 sites.
DR iPTMnet; Q9Y5G4; -.
DR PhosphoSitePlus; Q9Y5G4; -.
DR BioMuta; PCDHGA9; -.
DR DMDM; 37999834; -.
DR jPOST; Q9Y5G4; -.
DR MassIVE; Q9Y5G4; -.
DR MaxQB; Q9Y5G4; -.
DR PaxDb; Q9Y5G4; -.
DR PeptideAtlas; Q9Y5G4; -.
DR PRIDE; Q9Y5G4; -.
DR Antibodypedia; 60171; 46 antibodies from 9 providers.
DR DNASU; 56107; -.
DR Ensembl; ENST00000573521.2; ENSP00000460274.1; ENSG00000261934.3. [Q9Y5G4-1]
DR Ensembl; ENST00000616887.1; ENSP00000480862.1; ENSG00000261934.3. [Q9Y5G4-2]
DR GeneID; 56107; -.
DR KEGG; hsa:56107; -.
DR MANE-Select; ENST00000573521.2; ENSP00000460274.1; NM_018921.3; NP_061744.1.
DR UCSC; uc003lkh.3; human. [Q9Y5G4-1]
DR CTD; 56107; -.
DR DisGeNET; 56107; -.
DR GeneCards; PCDHGA9; -.
DR HGNC; HGNC:8707; PCDHGA9.
DR HPA; ENSG00000261934; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606296; gene.
DR neXtProt; NX_Q9Y5G4; -.
DR PharmGKB; PA33055; -.
DR VEuPathDB; HostDB:ENSG00000261934; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000165392; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5G4; -.
DR OMA; VPTSHIV; -.
DR OrthoDB; 260275at2759; -.
DR PhylomeDB; Q9Y5G4; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G4; -.
DR SignaLink; Q9Y5G4; -.
DR SIGNOR; Q9Y5G4; -.
DR BioGRID-ORCS; 56107; 7 hits in 1014 CRISPR screens.
DR GenomeRNAi; 56107; -.
DR Pharos; Q9Y5G4; Tdark.
DR PRO; PR:Q9Y5G4; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G4; protein.
DR Bgee; ENSG00000261934; Expressed in stromal cell of endometrium and 99 other tissues.
DR Genevisible; Q9Y5G4; 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:0003723; F:RNA binding; HDA:UniProtKB.
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; 4.
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..932
FT /note="Protocadherin gamma-A9"
FT /id="PRO_0000003964"
FT TOPO_DOM 29..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 29..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..683
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 803..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 813..841
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 47
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 127
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 389
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 809..828
FT /note="QAPPNTDWRFSQAQRPGTSG -> VSSFFFFLSFLFLFFVLFCF (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008675"
FT VAR_SEQ 829..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008676"
FT VARIANT 791
FT /note="L -> F (in dbSNP:rs17097274)"
FT /id="VAR_048565"
SQ SEQUENCE 932 AA; 101687 MW; 6FF22C104BE91FAD CRC64;
MAAPTKCQLR GRLVLLCSLL GMLWEARASQ IRYSVPEETE KGYIVGNISK DLALEPRELA
ERRVRIVSRG RTQLFSLNPR SGTLVTAGRI DREELCAQSP RCLVNFKVLV EDRVKLYGIE
IEVTDINDSA PKFQAESLEV KINEIAVPGA RYPLPEAIDP DVGVNSLQSY QLSPNHHFSL
NVQTGDNGAI NPELVLERAL DREEATAHHL VLTASDGGEP RRSSTVRIHV TVLDTNDNAP
VFAQRIYRVK VLENVPPGTW LLTATASDLD EGINGKVAYK FWKINEKQSL LFQLNENTGE
ISTAKSLDYE ECSFYEMEIQ AEDGGGLKGW TKVLISVEDV NDNRPEVTIT SLFSPVREDA
PQGTVILLFN AHDRDSGKNG QVVCSIQENL SFTLENSEED YYRLLTAQIL DREKASEYNI
TVTATDRGTP PLSTEIHITL QVTDINDNPP AFSQASYSVY LPENNARGTS IFSVIAYDPD
SNENSRVIYS LAEDTIQGSP LSTYVSINSD TGVLYALCSF DYEQFRDLQM QVTASDSGSP
PLSSNVSLRL FVLDQNDNAP EILYPALPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYRLFK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAVQDHG QPPLSATVTL
TVAIADSIPD ILADLGSLQI PADLEASDLT LYLVVAVAVV SCVFLTFVIT LLALRLRHWH
SSHLLRATSD GLAGVPTSHF VGVDGVRAFL QTYSQEFSLT ADSRKSHLIF PQPNYADTLI
SQQSCEKNEP LCVSVDSKFP IEDTPLVPQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
