PCDAD_HUMAN
ID PCDAD_HUMAN Reviewed; 950 AA.
AC Q9Y5I0; O75277;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Protocadherin alpha-13;
DE Short=PCDH-alpha-13;
DE Flags: Precursor;
GN Name=PCDHA13; Synonyms=CNRS5;
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=Q9Y5I0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5I0-2; Sequence=VSP_000697, VSP_000698;
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DR EMBL; AF152309; AAD43703.1; -; mRNA.
DR EMBL; AF152478; AAD43739.1; -; mRNA.
DR EMBL; AC005609; AAC34314.1; -; Genomic_DNA.
DR CCDS; CCDS4240.1; -. [Q9Y5I0-1]
DR RefSeq; NP_061727.1; NM_018904.2. [Q9Y5I0-1]
DR RefSeq; NP_114071.1; NM_031865.1. [Q9Y5I0-2]
DR AlphaFoldDB; Q9Y5I0; -.
DR SMR; Q9Y5I0; -.
DR BioGRID; 121076; 5.
DR IntAct; Q9Y5I0; 3.
DR MINT; Q9Y5I0; -.
DR STRING; 9606.ENSP00000289272; -.
DR GlyGen; Q9Y5I0; 3 sites.
DR iPTMnet; Q9Y5I0; -.
DR PhosphoSitePlus; Q9Y5I0; -.
DR BioMuta; PCDHA13; -.
DR DMDM; 13878431; -.
DR EPD; Q9Y5I0; -.
DR jPOST; Q9Y5I0; -.
DR MassIVE; Q9Y5I0; -.
DR MaxQB; Q9Y5I0; -.
DR PaxDb; Q9Y5I0; -.
DR PeptideAtlas; Q9Y5I0; -.
DR PRIDE; Q9Y5I0; -.
DR Antibodypedia; 76716; 20 antibodies from 10 providers.
DR DNASU; 56136; -.
DR Ensembl; ENST00000289272.3; ENSP00000289272.2; ENSG00000239389.8. [Q9Y5I0-1]
DR Ensembl; ENST00000617769.1; ENSP00000479167.1; ENSG00000239389.8. [Q9Y5I0-2]
DR GeneID; 56136; -.
DR KEGG; hsa:56136; -.
DR MANE-Select; ENST00000289272.3; ENSP00000289272.2; NM_018904.3; NP_061727.1.
DR UCSC; uc003lid.3; human. [Q9Y5I0-1]
DR CTD; 56136; -.
DR DisGeNET; 56136; -.
DR GeneCards; PCDHA13; -.
DR HGNC; HGNC:8667; PCDHA13.
DR HPA; ENSG00000239389; Group enriched (brain, parathyroid gland, retina).
DR MIM; 604966; gene.
DR MIM; 606319; gene.
DR neXtProt; NX_Q9Y5I0; -.
DR OpenTargets; ENSG00000239389; -.
DR PharmGKB; PA33013; -.
DR VEuPathDB; HostDB:ENSG00000239389; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000165479; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5I0; -.
DR OMA; VGHCKIL; -.
DR OrthoDB; 300321at2759; -.
DR PhylomeDB; Q9Y5I0; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5I0; -.
DR SignaLink; Q9Y5I0; -.
DR SIGNOR; Q9Y5I0; -.
DR BioGRID-ORCS; 56136; 11 hits in 1021 CRISPR screens.
DR GenomeRNAi; 56136; -.
DR Pharos; Q9Y5I0; Tdark.
DR PRO; PR:Q9Y5I0; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5I0; protein.
DR Bgee; ENSG00000239389; Expressed in cortical plate and 58 other tissues.
DR ExpressionAtlas; Q9Y5I0; baseline and differential.
DR Genevisible; Q9Y5I0; 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-13"
FT /id="PRO_0000003908"
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 34..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 780..806
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 829..950
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 787..801
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 859..873
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 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..807
FT /note="PRQPNPDWR -> VSLYFKKLS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000697"
FT VAR_SEQ 808..950
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000698"
SQ SEQUENCE 950 AA; 102483 MW; F487B3B1AF9D70AB CRC64;
MLSSWQGGPR PRQLLLWLLI LAAWETGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVE
VKVRDINDNP PIFPESKKRI IIAESRPPET RFPLDGASDA DIGVNSALTY RLDPNDYFTL
DAQNSLEQMS SLSLVLRKTL DREEIQEHSL LLTASDGGKP ELTGTVQLLI TILDVNDNAP
EFYQSVYKVT VLENAFNGTL VIKLNATDPD DGTNGDIVYS FRRPVWPAVV YAFTINPNNG
EIRTKGKLDF EEKKLYEISV EAVDKGNIPM AGHCTLLVEV LDVNDNAPEV TITSLSLPIR
EDTQPSAIIA LISVSDRDSG SNGQVTCTLT PHVPFKLVST YKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS VSVGVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAQ
DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDS
GVPPLGSNVT LQVFVLDEND NAPALLTPGA GSAGGTVSEL MPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQLAAVGARI PFRVGLYTGE ISTTRPLDEV DAPHHRLLVL VKDHGEPALT
ATATVLLSLV ESGQAPQASS RASAGAVGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSAPPTEG ACAPGKPTLV CSSAAGSWSY SQQRRPRVCS GEGPHKTDLM AFSPSLPPCL
GSAEGTGQRE EDSECLKEPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
