PCDGA_HUMAN
ID PCDGA_HUMAN Reviewed; 936 AA.
AC Q9Y5H3; Q9Y5E0;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Protocadherin gamma-A10;
DE Short=PCDH-gamma-A10;
DE Flags: Precursor;
GN Name=PCDHGA10;
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 VARIANT LYS-275.
RX PubMed=28940097; DOI=10.1007/s00439-017-1843-2;
RA Anazi S., Maddirevula S., Salpietro V., Asi Y.T., Alsahli S., Alhashem A.,
RA Shamseldin H.E., AlZahrani F., Patel N., Ibrahim N., Abdulwahab F.M.,
RA Hashem M., Alhashmi N., Al Murshedi F., Al Kindy A., Alshaer A.,
RA Rumayyan A., Al Tala S., Kurdi W., Alsaman A., Alasmari A., Banu S.,
RA Sultan T., Saleh M.M., Alkuraya H., Salih M.A., Aldhalaan H., Ben-Omran T.,
RA Al Musafri F., Ali R., Suleiman J., Tabarki B., El-Hattab A.W., Bupp C.,
RA Alfadhel M., Al Tassan N., Monies D., Arold S.T., Abouelhoda M.,
RA Lashley T., Houlden H., Faqeih E., Alkuraya F.S.;
RT "Expanding the genetic heterogeneity of intellectual disability.";
RL Hum. Genet. 136:1419-1429(2017).
RN [3]
RP ERRATUM OF PUBMED:28940097.
RX PubMed=29288388; DOI=10.1007/s00439-017-1859-7;
RA Anazi S., Maddirevula S., Salpietro V., Asi Y.T., Alsahli S., Alhashem A.,
RA Shamseldin H.E., AlZahrani F., Patel N., Ibrahim N., Abdulwahab F.M.,
RA Hashem M., Alhashmi N., Al Murshedi F., Al Kindy A., Alshaer A.,
RA Rumayyan A., Al Tala S., Kurdi W., Alsaman A., Alasmari A., Banu S.,
RA Sultan T., Saleh M.M., Alkuraya H., Salih M.A., Aldhalaan H., Ben-Omran T.,
RA Al Musafri F., Ali R., Suleiman J., Tabarki B., El-Hattab A.W., Bupp C.,
RA Alfadhel M., Al Tassan N., Monies D., Arold S.T., Abouelhoda M.,
RA Lashley T., Houlden H., Faqeih E., Alkuraya F.S.;
RT "Correction to: Expanding the genetic heterogeneity of intellectual
RT disability.";
RL Hum. Genet. 137:105-109(2018).
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=Q9Y5H3-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5H3-2; Sequence=VSP_008677, VSP_008678;
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DR EMBL; AF152319; AAD43713.1; -; mRNA.
DR EMBL; AF152503; AAD43764.1; -; mRNA.
DR CCDS; CCDS47292.1; -. [Q9Y5H3-1]
DR CCDS; CCDS75343.1; -. [Q9Y5H3-2]
DR RefSeq; NP_061736.1; NM_018913.2. [Q9Y5H3-1]
DR RefSeq; NP_114479.1; NM_032090.1. [Q9Y5H3-2]
DR AlphaFoldDB; Q9Y5H3; -.
DR SMR; Q9Y5H3; -.
DR BioGRID; 121046; 26.
DR STRING; 9606.ENSP00000381611; -.
DR GlyGen; Q9Y5H3; 3 sites.
DR iPTMnet; Q9Y5H3; -.
DR PhosphoSitePlus; Q9Y5H3; -.
DR BioMuta; PCDHGA10; -.
DR DMDM; 37999843; -.
DR EPD; Q9Y5H3; -.
DR jPOST; Q9Y5H3; -.
DR MassIVE; Q9Y5H3; -.
DR MaxQB; Q9Y5H3; -.
DR PaxDb; Q9Y5H3; -.
DR PeptideAtlas; Q9Y5H3; -.
DR PRIDE; Q9Y5H3; -.
DR ProteomicsDB; 86388; -. [Q9Y5H3-1]
DR ProteomicsDB; 86389; -. [Q9Y5H3-2]
DR Antibodypedia; 57508; 34 antibodies from 9 providers.
DR DNASU; 56106; -.
DR Ensembl; ENST00000398610.3; ENSP00000381611.2; ENSG00000253846.3. [Q9Y5H3-1]
DR Ensembl; ENST00000612503.1; ENSP00000481157.1; ENSG00000253846.3. [Q9Y5H3-2]
DR GeneID; 56106; -.
DR KEGG; hsa:56106; -.
DR MANE-Select; ENST00000398610.3; ENSP00000381611.2; NM_018913.3; NP_061736.1.
DR UCSC; uc003lkl.3; human. [Q9Y5H3-1]
DR CTD; 56106; -.
DR DisGeNET; 56106; -.
DR GeneCards; PCDHGA10; -.
DR HGNC; HGNC:8697; PCDHGA10.
DR HPA; ENSG00000253846; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606297; gene.
DR neXtProt; NX_Q9Y5H3; -.
DR OpenTargets; ENSG00000253846; -.
DR PharmGKB; PA33045; -.
DR VEuPathDB; HostDB:ENSG00000253846; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000164213; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H3; -.
DR OMA; TEIHFML; -.
DR OrthoDB; 260275at2759; -.
DR PhylomeDB; Q9Y5H3; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H3; -.
DR SIGNOR; Q9Y5H3; -.
DR BioGRID-ORCS; 56106; 5 hits in 1019 CRISPR screens.
DR GenomeRNAi; 56106; -.
DR Pharos; Q9Y5H3; Tdark.
DR PRO; PR:Q9Y5H3; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H3; protein.
DR Bgee; ENSG00000253846; Expressed in stromal cell of endometrium and 106 other tissues.
DR Genevisible; Q9Y5H3; 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; IPR032455; Cadherin_C.
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; PF16492; Cadherin_C_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..32
FT /evidence="ECO:0000255"
FT CHAIN 33..936
FT /note="Protocadherin gamma-A10"
FT /id="PRO_0000003966"
FT TOPO_DOM 33..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..137
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 138..246
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 247..351
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 352..456
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 457..566
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 574..687
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 806..845
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 906..936
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 817..845
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 51
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 423
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 549
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 813..850
FT /note="QAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTE -> VSFIFIFTFV
FT KKKKIGFYFEVCGMMVESVNAKTLMSRI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008677"
FT VAR_SEQ 851..936
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929"
FT /id="VSP_008678"
FT VARIANT 89
FT /note="I -> V (in dbSNP:rs4912751)"
FT /id="VAR_048566"
FT VARIANT 275
FT /note="E -> K (found in a patient with intellectual
FT disability; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:28940097"
FT /id="VAR_084654"
FT VARIANT 796
FT /note="S -> P (in dbSNP:rs11575963)"
FT /id="VAR_048567"
SQ SEQUENCE 936 AA; 101447 MW; 5F614F1934D5DC61 CRC64;
MAAQRNRSKE SKDCSGLVLL CLFFGIPWEA GARQISYSIP EELEKGSFVG NISKDLGLAP
RELAERGVRI VSRGRTQLFS LNPRSGSLIT AGRIDREELC AQSARCVVSF NILVEDRVKL
FGIEIEVTDI NDNAPKFQAE NLDVKINENV AAGMRFPLPE AIDPDVGVNS LQSYQLSPNK
HFSLRVQSRA NGVKYPELVL EHSLDREEEA IHHLVLTASD GGDPLRSGTV LVSVTVFDAN
DNAPVFTLPE YRVSVPENLP VGTQLLTVTA TDRDEGANGE VTYSFRKLPD TQLLKFQLNK
YTGEIKISEN LDYEETGFYE IEIQAEDGGA YLATAKVLIT VEDVNDNSPE LTITSLFSPV
TEDSPLGTVV ALLNVHDLDS EQNGQVTCSI LAYLPFKLEK SIDSYYRLVI HRALDREQVS
SYNITVTATD GGSPPLSTEA HFMLQVADIN DNPPTFSQVS YFTYIPENNA RGASIFSVTA
LDPDSKENAQ IIYSLAEDTI QGVPLSSYIS INSDTGVLYA LRSFDYEQFH ELQMQVTASD
SGDPPLSSNV SLSLFVLDQN DNAPEILYPA LPTDGSTGVE LAPRSAEPGY LVTKVVAVDR
DSGQNAWLSY RLLKASEPGL FAVGEHTGEV RTARALLDRD ALKQSLVVAV QDHGQPPLSA
TVTLTVAVAD SIPQVLADLG SFESPANSET SDLTLYLVVA VAAVSCVFLA FVIVLLAHRL
RRWHKSRLLQ ASGGGLTGVS GSHFVGVDGV RAFLQTYSHE VSLTADSRKS HLIFPQPNYA
DTLISQESCE KNDPLSLLDD SKFPIEDTPL VPQAPPNTDW RFSQAQRPGT SGSQNGDDTG
TWPNNQFDTE MLQAMILASA SEAADGSSTL GGGAGTMGLS ARYGPQFTLQ HVPDYRQNVY
IPGSNATLTN AAGKRDGKAP AGGNGNKKKS GKKEKK
