PCDA3_HUMAN
ID PCDA3_HUMAN Reviewed; 950 AA.
AC Q9Y5H8; O75286;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Protocadherin alpha-3;
DE Short=PCDH-alpha-3;
DE Flags: Precursor;
GN Name=PCDHA3;
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].
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).
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=Q9Y5H8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5H8-2; Sequence=VSP_000675, VSP_000676;
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DR EMBL; AF152311; AAD43705.1; -; mRNA.
DR EMBL; AF152481; AAD43742.1; -; mRNA.
DR EMBL; AC005609; AAC34323.1; -; Genomic_DNA.
DR CCDS; CCDS54915.1; -. [Q9Y5H8-1]
DR RefSeq; NP_061729.1; NM_018906.2. [Q9Y5H8-1]
DR RefSeq; NP_113685.1; NM_031497.1. [Q9Y5H8-2]
DR AlphaFoldDB; Q9Y5H8; -.
DR SMR; Q9Y5H8; -.
DR BioGRID; 121085; 87.
DR IntAct; Q9Y5H8; 30.
DR STRING; 9606.ENSP00000429808; -.
DR GlyGen; Q9Y5H8; 4 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y5H8; -.
DR PhosphoSitePlus; Q9Y5H8; -.
DR BioMuta; PCDHA3; -.
DR DMDM; 13878429; -.
DR EPD; Q9Y5H8; -.
DR jPOST; Q9Y5H8; -.
DR MassIVE; Q9Y5H8; -.
DR MaxQB; Q9Y5H8; -.
DR PaxDb; Q9Y5H8; -.
DR PeptideAtlas; Q9Y5H8; -.
DR PRIDE; Q9Y5H8; -.
DR ProteomicsDB; 86399; -. [Q9Y5H8-1]
DR ProteomicsDB; 86400; -. [Q9Y5H8-2]
DR Antibodypedia; 50294; 131 antibodies from 21 providers.
DR DNASU; 56145; -.
DR Ensembl; ENST00000522353.3; ENSP00000429808.2; ENSG00000255408.4. [Q9Y5H8-1]
DR Ensembl; ENST00000532566.3; ENSP00000434086.2; ENSG00000255408.4. [Q9Y5H8-2]
DR GeneID; 56145; -.
DR KEGG; hsa:56145; -.
DR MANE-Select; ENST00000522353.3; ENSP00000429808.2; NM_018906.3; NP_061729.1.
DR UCSC; uc003lhf.2; human. [Q9Y5H8-1]
DR CTD; 56145; -.
DR DisGeNET; 56145; -.
DR GeneCards; PCDHA3; -.
DR HGNC; HGNC:8669; PCDHA3.
DR HPA; ENSG00000255408; Tissue enhanced (brain).
DR MIM; 604966; gene.
DR MIM; 606309; gene.
DR neXtProt; NX_Q9Y5H8; -.
DR OpenTargets; ENSG00000255408; -.
DR PharmGKB; PA33015; -.
DR VEuPathDB; HostDB:ENSG00000255408; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164089; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H8; -.
DR OMA; CPVNQDK; -.
DR OrthoDB; 184745at2759; -.
DR PhylomeDB; Q9Y5H8; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H8; -.
DR SignaLink; Q9Y5H8; -.
DR SIGNOR; Q9Y5H8; -.
DR BioGRID-ORCS; 56145; 8 hits in 1021 CRISPR screens.
DR GeneWiki; PCDHA3; -.
DR GenomeRNAi; 56145; -.
DR Pharos; Q9Y5H8; Tdark.
DR PRO; PR:Q9Y5H8; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H8; protein.
DR Bgee; ENSG00000255408; Expressed in cortical plate and 88 other tissues.
DR Genevisible; Q9Y5H8; 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; TAS:ProtInc.
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-3"
FT /id="PRO_0000003888"
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 581..678
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 734..737
FT /note="PXXP 1"
FT REPEAT 774..777
FT /note="PXXP 2"
FT REPEAT 799..802
FT /note="PXXP 3"
FT REPEAT 832..835
FT /note="PXXP 4"
FT REPEAT 873..876
FT /note="PXXP 5"
FT REPEAT 891..894
FT /note="PXXP 6"
FT REGION 734..894
FT /note="6 X 4 AA repeats of P-X-X-P"
FT REGION 777..806
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 831..856
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 869..950
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 781..795
FT /note="Basic and acidic 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 257
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..824
FT /note="PRQPNPDWRYSASLRAGMHSSVHLEE -> VSNFYLFFPKCLCFSFLNVSTP
FT LEIH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000675"
FT VAR_SEQ 825..950
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000676"
FT VARIANT 61
FT /note="P -> Q (in dbSNP:rs7731327)"
FT /id="VAR_061060"
FT VARIANT 289
FT /note="I -> T (in dbSNP:rs3733709)"
FT /id="VAR_048524"
FT VARIANT 318
FT /note="I -> V (in dbSNP:rs3733708)"
FT /id="VAR_021874"
FT VARIANT 440
FT /note="S -> I (in dbSNP:rs7701755)"
FT /id="VAR_048525"
FT VARIANT 759
FT /note="C -> Y (in dbSNP:rs2240694)"
FT /id="VAR_021875"
SQ SEQUENCE 950 AA; 102428 MW; 0BF2CD4886D178B5 CRC64;
MLFSWREDPG AQCLLLSLLL LAASEVGSGQ LHYSVSEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVE
VEVKDINDNA PVFPMAVKNL FISESRQPGS RFSLEGASDA DIGTNSLLTY SLDSTEYFTL
DVKRNDEEIK SLGLVLKKNL NREDTPKHYL LITAIDGGKP ELTGTTQLKI TVLDVNDNAP
AFERTIYKVR LLENAPNGTL VVTVNATDLD EGVNKDIAYS FNTDMSADIL SKFHLDPVNG
QISVKGNIDF EESKSYEIQV EATDKGNPPM SDHCTVLLEI VDINDNVPEL VIQSLSLPVL
EDSPLSTVIA LISVSDRDSG VNGQVTCSLT PHVPFKLVST FKNYYSLVLD SPLDRESVSA
YELVVTARDG GSPSLWATAS VSVEVADVND NAPAFSQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLMPRV GGIGGAVSEL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPGTGGARI PFRVGLYTGE ISTTRALDEV DAPRHRLLVL VKDHGEPSLT
ATATVLVSLV ESGQAPKASS QASAGATGPE AALVDVNVYL IVAICAVSSL LVLTLLLYTA
LRCSAPPTEG DCGPGKPTLV CSSAVGSWSY SQQRQQRVCS GEGLPKTDLM AFSPSLPPCP
ISRDREEKQD VDVDLSAKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
