PCDA1_HUMAN
ID PCDA1_HUMAN Reviewed; 950 AA.
AC Q9Y5I3; O75288; Q9NRT7;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Protocadherin alpha-1;
DE Short=PCDH-alpha-1;
DE Flags: Precursor;
GN Name=PCDHA1;
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 3).
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 (ISOFORM 2).
RC TISSUE=Brain;
RA Kools P.F.J., van Roy F.;
RT "Alternative splicing within the human CNR family of protocadherins (PCDH-
RT alpha) produces transcripts encoding secreted proteins.";
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
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: [Isoform 1]: Cell membrane {ECO:0000250}; Single-
CC pass type I membrane protein {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Additional isoforms seem to exist.;
CC Name=1;
CC IsoId=Q9Y5I3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5I3-2; Sequence=VSP_000670;
CC Name=3;
CC IsoId=Q9Y5I3-3; Sequence=VSP_000671, VSP_000672;
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DR EMBL; AF152305; AAD43699.1; -; mRNA.
DR EMBL; AF152479; AAD43740.1; -; mRNA.
DR EMBL; AF169695; AAF89692.1; -; mRNA.
DR EMBL; AC005609; AAC34325.1; -; Genomic_DNA.
DR CCDS; CCDS54912.1; -. [Q9Y5I3-2]
DR CCDS; CCDS54913.1; -. [Q9Y5I3-1]
DR RefSeq; NP_061723.1; NM_018900.3. [Q9Y5I3-1]
DR RefSeq; NP_113598.1; NM_031410.2. [Q9Y5I3-3]
DR RefSeq; NP_113599.1; NM_031411.2. [Q9Y5I3-2]
DR AlphaFoldDB; Q9Y5I3; -.
DR SMR; Q9Y5I3; -.
DR BioGRID; 121087; 6.
DR IntAct; Q9Y5I3; 3.
DR GlyGen; Q9Y5I3; 3 sites.
DR iPTMnet; Q9Y5I3; -.
DR PhosphoSitePlus; Q9Y5I3; -.
DR BioMuta; PCDHA1; -.
DR DMDM; 13878434; -.
DR jPOST; Q9Y5I3; -.
DR MassIVE; Q9Y5I3; -.
DR PaxDb; Q9Y5I3; -.
DR PeptideAtlas; Q9Y5I3; -.
DR PRIDE; Q9Y5I3; -.
DR ProteomicsDB; 86411; -. [Q9Y5I3-1]
DR ProteomicsDB; 86412; -. [Q9Y5I3-2]
DR ProteomicsDB; 86413; -. [Q9Y5I3-3]
DR Antibodypedia; 27106; 112 antibodies from 16 providers.
DR DNASU; 56147; -.
DR Ensembl; ENST00000378133.4; ENSP00000367373.3; ENSG00000204970.10. [Q9Y5I3-3]
DR Ensembl; ENST00000394633.7; ENSP00000378129.3; ENSG00000204970.10. [Q9Y5I3-2]
DR Ensembl; ENST00000504120.4; ENSP00000420840.3; ENSG00000204970.10. [Q9Y5I3-1]
DR GeneID; 56147; -.
DR KEGG; hsa:56147; -.
DR MANE-Select; ENST00000504120.4; ENSP00000420840.3; NM_018900.4; NP_061723.1.
DR UCSC; uc003lgz.5; human. [Q9Y5I3-1]
DR CTD; 56147; -.
DR DisGeNET; 56147; -.
DR GeneCards; PCDHA1; -.
DR HGNC; HGNC:8663; PCDHA1.
DR HPA; ENSG00000204970; Tissue enhanced (brain, pituitary gland, testis).
DR MIM; 604966; gene.
DR MIM; 606307; gene.
DR neXtProt; NX_Q9Y5I3; -.
DR OpenTargets; ENSG00000204970; -.
DR PharmGKB; PA33009; -.
DR VEuPathDB; HostDB:ENSG00000204970; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000165185; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5I3; -.
DR OMA; CGQSLEC; -.
DR OrthoDB; 300321at2759; -.
DR PhylomeDB; Q9Y5I3; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5I3; -.
DR SignaLink; Q9Y5I3; -.
DR SIGNOR; Q9Y5I3; -.
DR BioGRID-ORCS; 56147; 45 hits in 1018 CRISPR screens.
DR GeneWiki; Protocadherin_alpha_1; -.
DR GenomeRNAi; 56147; -.
DR Pharos; Q9Y5I3; Tbio.
DR PRO; PR:Q9Y5I3; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5I3; protein.
DR Bgee; ENSG00000204970; Expressed in cortical plate and 39 other tissues.
DR Genevisible; Q9Y5I3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
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 InterPro; IPR030740; PCDHA1.
DR PANTHER; PTHR24028:SF92; PTHR24028:SF92; 1.
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; Secreted; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..950
FT /note="Protocadherin alpha-1"
FT /id="PRO_0000003884"
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 157..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 752..808
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 828..856
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 871..890
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 900..950
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 774..805
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 535..798
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_000670"
FT VAR_SEQ 799..807
FT /note="PRQPNPDWR -> VSPTFEFWL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000671"
FT VAR_SEQ 808..950
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000672"
FT VARIANT 360
FT /note="R -> G (in dbSNP:rs34575154)"
FT /id="VAR_048521"
FT VARIANT 449
FT /note="N -> H (in dbSNP:rs3733712)"
FT /id="VAR_021872"
FT VARIANT 732
FT /note="Y -> C (in dbSNP:rs2240696)"
FT /id="VAR_021873"
FT VARIANT 759
FT /note="C -> F (in dbSNP:rs2240695)"
FT /id="VAR_048522"
SQ SEQUENCE 950 AA; 102952 MW; 9FC170365565908A CRC64;
MVFSRRGGLG ARDLLLWLLL LAAWEVGSGQ LHYSIPEEAK HGTFVGRVAQ DLGLELAELV
PRLFRVASKT HRDLLEVNLQ NGILFVNSRI DREELCQWSA ECSIHLELIA DRPLQVFHVE
VKVKDINDNP PVFRGREQII FIPESRLLNS RFPIEGAADA DIGANALLTY TLSPSDYFSL
DVEASDELSK SLWLELRKYL DREETPELHL LLTATDGGKP ELQGTVELLI TVLDVNDNAP
LFDQAVYRVH LLETTANGTL VTTLNASDAD EGVNGEVVFS FDSGISRDIQ EKFKVDSSSG
EIRLIDKLDY EETKSYEIQV KAVDKGSPPM SNHCKVLVKV LDVNDNAPEL AVTSLYLPIR
EDAPLSTVIA LITVSDRDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRESLSV
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSNYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTIGAVSEL VPRLVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAAGGARI PFRVGLYTGE ISTTRVLDEA DLSRYRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RASVGVAGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSVPPTEG AYVPGKPTLV CSSALGSWSN SQQRRQRVCS SEGPPKTDLM AFSPGLSPSL
NTSERNEQPE ANLDLSGNPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
