PCDA8_HUMAN
ID PCDA8_HUMAN Reviewed; 950 AA.
AC Q9Y5H6; B9EGT7; O75281;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Protocadherin alpha-8;
DE Short=PCDH-alpha-8;
DE Flags: Precursor;
GN Name=PCDHA8;
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 2).
RC TISSUE=Testis;
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=Q9Y5H6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y5H6-2; Sequence=VSP_000686, VSP_000687;
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DR EMBL; AF152316; AAD43710.1; -; mRNA.
DR EMBL; AF152486; AAD43747.1; -; mRNA.
DR EMBL; AC005609; AAC34318.1; -; Genomic_DNA.
DR EMBL; BC136750; AAI36751.1; -; mRNA.
DR CCDS; CCDS54919.1; -. [Q9Y5H6-1]
DR RefSeq; NP_061734.1; NM_018911.2. [Q9Y5H6-1]
DR RefSeq; NP_114062.1; NM_031856.1. [Q9Y5H6-2]
DR AlphaFoldDB; Q9Y5H6; -.
DR SMR; Q9Y5H6; -.
DR BioGRID; 121080; 59.
DR IntAct; Q9Y5H6; 2.
DR STRING; 9606.ENSP00000434655; -.
DR GlyGen; Q9Y5H6; 3 sites.
DR iPTMnet; Q9Y5H6; -.
DR PhosphoSitePlus; Q9Y5H6; -.
DR BioMuta; PCDHA8; -.
DR DMDM; 13878427; -.
DR EPD; Q9Y5H6; -.
DR jPOST; Q9Y5H6; -.
DR MassIVE; Q9Y5H6; -.
DR PaxDb; Q9Y5H6; -.
DR PeptideAtlas; Q9Y5H6; -.
DR PRIDE; Q9Y5H6; -.
DR Antibodypedia; 27163; 89 antibodies from 18 providers.
DR DNASU; 56140; -.
DR Ensembl; ENST00000378123.4; ENSP00000367363.3; ENSG00000204962.6. [Q9Y5H6-2]
DR Ensembl; ENST00000531613.2; ENSP00000434655.1; ENSG00000204962.6. [Q9Y5H6-1]
DR GeneID; 56140; -.
DR KEGG; hsa:56140; -.
DR MANE-Select; ENST00000531613.2; ENSP00000434655.1; NM_018911.3; NP_061734.1.
DR UCSC; uc003lhr.2; human. [Q9Y5H6-1]
DR CTD; 56140; -.
DR DisGeNET; 56140; -.
DR GeneCards; PCDHA8; -.
DR HGNC; HGNC:8674; PCDHA8.
DR HPA; ENSG00000204962; Tissue enriched (brain).
DR MIM; 604966; gene.
DR MIM; 606314; gene.
DR neXtProt; NX_Q9Y5H6; -.
DR OpenTargets; ENSG00000204962; -.
DR PharmGKB; PA33020; -.
DR VEuPathDB; HostDB:ENSG00000204962; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000163903; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H6; -.
DR OMA; MEASCNI; -.
DR OrthoDB; 300321at2759; -.
DR PhylomeDB; Q9Y5H6; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H6; -.
DR SignaLink; Q9Y5H6; -.
DR SIGNOR; Q9Y5H6; -.
DR BioGRID-ORCS; 56140; 63 hits in 1024 CRISPR screens.
DR GenomeRNAi; 56140; -.
DR Pharos; Q9Y5H6; Tdark.
DR PRO; PR:Q9Y5H6; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H6; protein.
DR Bgee; ENSG00000204962; Expressed in cortical plate and 24 other tissues.
DR Genevisible; Q9Y5H6; 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-8"
FT /id="PRO_0000003898"
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 581..678
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 774..777
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 774..894
FT /note="5 X 4 AA repeats of P-X-X-P"
FT REGION 830..950
FT /note="Disordered"
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..814
FT /note="PRQPNPDWRYSASLRA -> VSPFKFRTHKFYLWKL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000686"
FT VAR_SEQ 815..950
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000687"
FT VARIANT 78
FT /note="S -> N (in dbSNP:rs3756331)"
FT /id="VAR_021876"
FT VARIANT 269
FT /note="P -> R (in dbSNP:rs525886)"
FT /id="VAR_048529"
FT VARIANT 579
FT /note="K -> E (in dbSNP:rs6580012)"
FT /id="VAR_059181"
SQ SEQUENCE 950 AA; 103051 MW; FABCBDA29118B63E CRC64;
MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDVNDNP PVFRVKDQKL FVSESRMPDS RFPLEGASDA DVGANSVLTY RLSSHDYFML
DVNSKNDENK LVELVLRKSL DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRERVSA
YELVVTARDG GSPSLWATAS LSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLEPRV GGTGGAASKL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG GCRAGKPTLV CSSAVGSWSY SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL
GSVDVGEEQD LNVDHGLKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ
