PCDA5_HUMAN
ID PCDA5_HUMAN Reviewed; 936 AA.
AC Q9Y5H7; O75284; Q8N4R3;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Protocadherin alpha-5;
DE Short=PCDH-alpha-5;
DE Flags: Precursor;
GN Name=PCDHA5; Synonyms=CNRS6;
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain, and Lung;
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=3;
CC Name=1;
CC IsoId=Q9Y5H7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5H7-2; Sequence=VSP_000679, VSP_000680;
CC Name=3;
CC IsoId=Q9Y5H7-3; Sequence=VSP_008704, VSP_008705;
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DR EMBL; AF152313; AAD43707.1; -; mRNA.
DR EMBL; AF152483; AAD43744.1; -; mRNA.
DR EMBL; AC005609; AAC34321.1; -; Genomic_DNA.
DR EMBL; BC033735; AAH33735.1; -; mRNA.
DR CCDS; CCDS54917.1; -. [Q9Y5H7-1]
DR RefSeq; NP_061731.1; NM_018908.2. [Q9Y5H7-1]
DR RefSeq; NP_113689.1; NM_031501.1. [Q9Y5H7-2]
DR AlphaFoldDB; Q9Y5H7; -.
DR SMR; Q9Y5H7; -.
DR BioGRID; 121083; 3.
DR IntAct; Q9Y5H7; 2.
DR STRING; 9606.ENSP00000436557; -.
DR GlyGen; Q9Y5H7; 2 sites.
DR iPTMnet; Q9Y5H7; -.
DR PhosphoSitePlus; Q9Y5H7; -.
DR BioMuta; PCDHA5; -.
DR DMDM; 13878428; -.
DR EPD; Q9Y5H7; -.
DR jPOST; Q9Y5H7; -.
DR MassIVE; Q9Y5H7; -.
DR PaxDb; Q9Y5H7; -.
DR PeptideAtlas; Q9Y5H7; -.
DR PRIDE; Q9Y5H7; -.
DR ProteomicsDB; 86396; -. [Q9Y5H7-1]
DR ProteomicsDB; 86397; -. [Q9Y5H7-2]
DR ProteomicsDB; 86398; -. [Q9Y5H7-3]
DR Antibodypedia; 27127; 139 antibodies from 23 providers.
DR DNASU; 56143; -.
DR Ensembl; ENST00000529619.5; ENSP00000433416.1; ENSG00000204965.9. [Q9Y5H7-3]
DR Ensembl; ENST00000529859.2; ENSP00000436557.1; ENSG00000204965.9. [Q9Y5H7-1]
DR Ensembl; ENST00000614258.1; ENSP00000484128.1; ENSG00000204965.9. [Q9Y5H7-2]
DR GeneID; 56143; -.
DR KEGG; hsa:56143; -.
DR MANE-Select; ENST00000529859.2; ENSP00000436557.1; NM_018908.3; NP_061731.1.
DR UCSC; uc003lhj.2; human. [Q9Y5H7-1]
DR CTD; 56143; -.
DR DisGeNET; 56143; -.
DR GeneCards; PCDHA5; -.
DR HGNC; HGNC:8671; PCDHA5.
DR HPA; ENSG00000204965; Tissue enriched (brain).
DR MIM; 604966; gene.
DR MIM; 606311; gene.
DR neXtProt; NX_Q9Y5H7; -.
DR OpenTargets; ENSG00000204965; -.
DR PharmGKB; PA33017; -.
DR VEuPathDB; HostDB:ENSG00000204965; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164408; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H7; -.
DR OMA; LDYEDCK; -.
DR OrthoDB; 184745at2759; -.
DR PhylomeDB; Q9Y5H7; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H7; -.
DR SignaLink; Q9Y5H7; -.
DR SIGNOR; Q9Y5H7; -.
DR BioGRID-ORCS; 56143; 9 hits in 1023 CRISPR screens.
DR GeneWiki; PCDHA5; -.
DR GenomeRNAi; 56143; -.
DR Pharos; Q9Y5H7; Tdark.
DR PRO; PR:Q9Y5H7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H7; protein.
DR Bgee; ENSG00000204965; Expressed in prefrontal cortex and 35 other tissues.
DR Genevisible; Q9Y5H7; 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..28
FT /evidence="ECO:0000255"
FT CHAIN 29..936
FT /note="Protocadherin alpha-5"
FT /id="PRO_0000003892"
FT TOPO_DOM 29..696
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 697..717
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 718..936
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 33..132
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 156..241
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 242..349
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 350..454
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 455..564
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 580..677
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 773..776
FT /note="PXXP 1"
FT REPEAT 785..788
FT /note="PXXP 2"
FT REPEAT 818..821
FT /note="PXXP 3"
FT REPEAT 873..876
FT /note="PXXP 4"
FT REPEAT 877..890
FT /note="PXXP 5"
FT REGION 759..793
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 773..890
FT /note="5 X 4 AA repeats of P-X-X-P"
FT REGION 816..936
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 773..791
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 845..859
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 884..898
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 921..936
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 264
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 547
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 785..816
FT /note="PRQPNPDWRYSASLRAGMHSSVHLEEAGILRA -> VSFLILTSIFPSQFSN
FT IKCHIHPLFLYLKIMS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000679"
FT VAR_SEQ 817..936
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_000680"
FT VAR_SEQ 868..890
FT /note="GELPDKFIIPGSPAIISIRQEPT -> EPKKQTQVSFLLRRKGEASQPRQ
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008704"
FT VAR_SEQ 891..936
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008705"
FT VARIANT 691
FT /note="A -> V (in dbSNP:rs4141841)"
FT /id="VAR_048526"
FT CONFLICT 237
FT /note="N -> S (in Ref. 3; AAH33735)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 936 AA; 102048 MW; 7143EECE1A357CD6 CRC64;
MVYSRRGSLG SRLLLLWLLL AYWKAGSGQL HYSIPEEAKH GTFVGRIAQD LGLELAELVP
RLFRVASKGR GDLLEVNLQN GILFVNSRID REELCRRRAE CSIHLEVIVD RPLQVFHVEV
AVKDINDNPP RFSRQEQRLF ILESRMPDSR FPLEGASDLD IGANAQLRYR LNPNEYFDLD
VKTNEEETNF LELVLRKSLD REETQEHRLL VIATDGGKPE LTGTVQLLIN VLDANDNAPE
FDKSIYNVRL LENAPSGTLV IKLNASDADE GINKEIVYFF SNLVLDDVKS KFIINSNTGE
IKVNGELDYE DYNSYEINID AMDKSTFPLS GHCKVVVKLL DVNDNTPEMA ITTLFLPVKE
DAPLSTVIAL ISVSDRDSGA NGQVTCSLMP HVPFKLVSTF KNYYSLVLDS ALDRESVSVY
ELVVTARDGG SPSLWATASV SVEVADVNDN APAFAQPQYT VFVKENNPPG CHIFTVSARD
ADAQENALVS YSLVERRVGE RPLSSYVSVH AESGKVYALQ PLDHEEVELL QFQVSARDAG
VPPLGSNVTL QVFVLDENDN APALLVPRVG GTGGAVSELV PRSVGAGHVV AKVRAVDPDS
GYNAWLSYEL QPAPGSARIP FRVGLYTGEI STTRSLDETE APRHRLLVLV KDHGEPPLTA
TATVLVSLVE SGQAPKASSR ASAGAVGPEA ALVDVNVYLI IAICAVSSLL VLTLLLYTAL
RCSAQPTEAV CTRGKPTLLC SSAVGSWSYS QQRRQRVCSG EAPPKTDLMA FSPSLPQGPT
STDNPRQPNP DWRYSASLRA GMHSSVHLEE AGILRAGPGG PDQQWPTVSS ATPEPEAGEV
SPPVGAGVNS NSWTFKYGPG NPKQSGPGEL PDKFIIPGSP AIISIRQEPT NSQIDKSDFI
TFGKKEETKK KKKKKKGNKT QEKKEKGNST TDNSDQ
