PCDA9_HUMAN
ID PCDA9_HUMAN Reviewed; 950 AA.
AC Q9Y5H5; O15053; Q2M3S5;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 186.
DE RecName: Full=Protocadherin alpha-9;
DE Short=PCDH-alpha-9;
DE Flags: Precursor;
GN Name=PCDHA9; Synonyms=KIAA0345;
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] (ISOFORM 1).
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 [MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain;
RA Kools P.F.J., van Roy F.;
RT "In silico identification and molecular cloning of novel human
RT protocadherin genes having identical 3' exons.";
RL Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 -!- 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=Q9Y5H5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5H5-2; Sequence=VSP_000688, VSP_000689;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20803.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF152317; AAD43711.1; -; mRNA.
DR EMBL; AF152487; AAD43748.1; -; mRNA.
DR EMBL; AJ007610; CAC22257.1; -; mRNA.
DR EMBL; AB002343; BAA20803.2; ALT_INIT; mRNA.
DR EMBL; AC005609; AAC34313.1; -; Genomic_DNA.
DR EMBL; BC104802; AAI04803.1; -; mRNA.
DR EMBL; BC104804; AAI04805.1; -; mRNA.
DR CCDS; CCDS54920.1; -. [Q9Y5H5-1]
DR RefSeq; NP_054724.1; NM_014005.4. [Q9Y5H5-2]
DR RefSeq; NP_114063.1; NM_031857.1. [Q9Y5H5-1]
DR AlphaFoldDB; Q9Y5H5; -.
DR SMR; Q9Y5H5; -.
DR BioGRID; 115100; 38.
DR IntAct; Q9Y5H5; 7.
DR STRING; 9606.ENSP00000436042; -.
DR GlyGen; Q9Y5H5; 3 sites.
DR iPTMnet; Q9Y5H5; -.
DR PhosphoSitePlus; Q9Y5H5; -.
DR BioMuta; PCDHA9; -.
DR DMDM; 13878426; -.
DR EPD; Q9Y5H5; -.
DR jPOST; Q9Y5H5; -.
DR MassIVE; Q9Y5H5; -.
DR PaxDb; Q9Y5H5; -.
DR PeptideAtlas; Q9Y5H5; -.
DR PRIDE; Q9Y5H5; -.
DR ProteomicsDB; 86392; -. [Q9Y5H5-1]
DR ProteomicsDB; 86393; -. [Q9Y5H5-2]
DR Antibodypedia; 27165; 90 antibodies from 18 providers.
DR DNASU; 9752; -.
DR Ensembl; ENST00000378122.4; ENSP00000367362.3; ENSG00000204961.7. [Q9Y5H5-2]
DR Ensembl; ENST00000532602.2; ENSP00000436042.2; ENSG00000204961.7. [Q9Y5H5-1]
DR GeneID; 9752; -.
DR KEGG; hsa:9752; -.
DR MANE-Select; ENST00000532602.2; ENSP00000436042.2; NM_031857.2; NP_114063.1.
DR UCSC; uc003lht.2; human. [Q9Y5H5-1]
DR CTD; 9752; -.
DR DisGeNET; 9752; -.
DR GeneCards; PCDHA9; -.
DR HGNC; HGNC:8675; PCDHA9.
DR HPA; ENSG00000204961; Tissue enhanced (brain, testis).
DR MIM; 604966; gene.
DR MIM; 606315; gene.
DR neXtProt; NX_Q9Y5H5; -.
DR OpenTargets; ENSG00000204961; -.
DR PharmGKB; PA33021; -.
DR VEuPathDB; HostDB:ENSG00000204961; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163312; -.
DR HOGENOM; CLU_006480_0_0_1; -.
DR InParanoid; Q9Y5H5; -.
DR OMA; GINREIC; -.
DR OrthoDB; 184745at2759; -.
DR PhylomeDB; Q9Y5H5; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H5; -.
DR SignaLink; Q9Y5H5; -.
DR SIGNOR; Q9Y5H5; -.
DR BioGRID-ORCS; 9752; 8 hits in 1021 CRISPR screens.
DR GeneWiki; PCDHA9; -.
DR GenomeRNAi; 9752; -.
DR Pharos; Q9Y5H5; Tdark.
DR PRO; PR:Q9Y5H5; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H5; protein.
DR Bgee; ENSG00000204961; Expressed in buccal mucosa cell and 51 other tissues.
DR Genevisible; Q9Y5H5; 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; 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; 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..29
FT /evidence="ECO:0000255"
FT CHAIN 30..950
FT /note="Protocadherin alpha-9"
FT /id="PRO_0000003900"
FT TOPO_DOM 30..697
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 698..718
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 719..950
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 30..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..350
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 351..455
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 456..565
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 588..678
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 734..737
FT /note="PXXP 1"
FT REPEAT 799..802
FT /note="PXXP 2"
FT REPEAT 832..835
FT /note="PXXP 3"
FT REPEAT 873..876
FT /note="PXXP 4"
FT REPEAT 891..894
FT /note="PXXP 5"
FT REGION 734..894
FT /note="5 X 4 AA repeats of P-X-X-P"
FT REGION 770..808
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 827..856
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 871..950
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 779..802
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 898..912
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 935..950
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 254
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 265
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 548
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 799..842
FT /note="PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTV -> VGFS
FT SILFIYIIFFLERYYRLLPGAVQIVLFIFLEIQQIFFLIK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9205841"
FT /id="VSP_000688"
FT VAR_SEQ 843..950
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9205841"
FT /id="VSP_000689"
FT VARIANT 28
FT /note="S -> R (in dbSNP:rs251353)"
FT /id="VAR_048530"
FT VARIANT 64
FT /note="F -> L (in dbSNP:rs56926451)"
FT /id="VAR_061062"
FT VARIANT 138
FT /note="K -> R (in dbSNP:rs364101)"
FT /id="VAR_048531"
FT VARIANT 336
FT /note="L -> V (in dbSNP:rs251354)"
FT /id="VAR_048532"
FT VARIANT 430
FT /note="G -> R (in dbSNP:rs251355)"
FT /id="VAR_048533"
FT VARIANT 501
FT /note="E -> Q (in dbSNP:rs59056023)"
FT /id="VAR_061063"
FT VARIANT 764
FT /note="K -> Q (in dbSNP:rs369636)"
FT /id="VAR_059182"
FT VARIANT 764
FT /note="K -> T (in dbSNP:rs369639)"
FT /id="VAR_048534"
SQ SEQUENCE 950 AA; 102402 MW; AA1783B20D963957 CRC64;
MLYSSRGDPE GQPLLLSLLI LAMWVVGSGQ LHYSVPEEAE HGTFVGRIAQ DLGLELAELV
PRLFQLDSKG RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDINDNP PVFPATQKNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTLLVEV VDVNDNAPQL TIKTLSVPVK
EDAQLGTVIA LISVIDLDAD ANGQVTCSLT PHVPFKLVST YKNYYSLVLD RALDRESVSA
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRLG ERSLSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLTPRM RGTDGAVSEM VLRSVGAGVV VGKVRAVDAD
SGYNAWLSYE LQPETASASI PFRVGLYTGE ISTTRALDET DAPRQRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKSSS RASVGATGPE VTLVDVNVYL IIAICAVSSL LVLTLLLYTV
LRCSAMPTEG ECAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEGKQKTDLM AFSPGLSPCA
GSTERTGEPS ASSDSTGKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
