PCD20_HUMAN
ID PCD20_HUMAN Reviewed; 951 AA.
AC Q8N6Y1; A8K1K9; B1AQU2; Q8NDN4; Q9NRT9;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 18-SEP-2013, sequence version 2.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Protocadherin-20;
DE AltName: Full=Protocadherin-13;
DE Flags: Precursor;
GN Name=PCDH20; Synonyms=PCDH13;
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].
RA Kools P.F.J., van Roy F.;
RT "Identification and characterization of a novel human protocadherin
RT localized on chromosome 13q21, a region containing also protocadherin-8 and
RT -9.";
RL Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-951.
RC TISSUE=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).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] MET-523.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Potential calcium-dependent cell-adhesion protein.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH27907.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF169693; AAF89690.1; -; mRNA.
DR EMBL; AK289924; BAF82613.1; -; mRNA.
DR EMBL; AL833830; CAD38690.1; -; mRNA.
DR EMBL; AL592490; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471124; EAW52085.1; -; Genomic_DNA.
DR EMBL; BC027907; AAH27907.1; ALT_INIT; mRNA.
DR CCDS; CCDS9442.2; -.
DR RefSeq; NP_073754.2; NM_022843.3.
DR RefSeq; XP_016876197.1; XM_017020708.1.
DR AlphaFoldDB; Q8N6Y1; -.
DR SMR; Q8N6Y1; -.
DR BioGRID; 122337; 72.
DR IntAct; Q8N6Y1; 46.
DR STRING; 9606.ENSP00000386653; -.
DR GlyGen; Q8N6Y1; 8 sites.
DR iPTMnet; Q8N6Y1; -.
DR PhosphoSitePlus; Q8N6Y1; -.
DR BioMuta; PCDH20; -.
DR DMDM; 544584765; -.
DR MassIVE; Q8N6Y1; -.
DR PaxDb; Q8N6Y1; -.
DR PeptideAtlas; Q8N6Y1; -.
DR PRIDE; Q8N6Y1; -.
DR ProteomicsDB; 72248; -.
DR Antibodypedia; 76720; 156 antibodies from 19 providers.
DR DNASU; 64881; -.
DR Ensembl; ENST00000409204.4; ENSP00000387250.3; ENSG00000280165.1.
DR GeneID; 64881; -.
DR KEGG; hsa:64881; -.
DR MANE-Select; ENST00000409204.5; ENSP00000387250.3; NM_022843.4; NP_073754.2.
DR UCSC; uc001vid.5; human.
DR CTD; 64881; -.
DR DisGeNET; 64881; -.
DR GeneCards; PCDH20; -.
DR HGNC; HGNC:14257; PCDH20.
DR HPA; ENSG00000280165; Tissue enhanced (brain, smooth muscle).
DR MIM; 614449; gene.
DR neXtProt; NX_Q8N6Y1; -.
DR OpenTargets; ENSG00000197991; -.
DR OpenTargets; ENSG00000280165; -.
DR PharmGKB; PA33004; -.
DR VEuPathDB; HostDB:ENSG00000280165; -.
DR eggNOG; ENOG502QU9U; Eukaryota.
DR GeneTree; ENSGT00940000156743; -.
DR HOGENOM; CLU_006480_5_2_1; -.
DR InParanoid; Q8N6Y1; -.
DR OMA; NCFASYS; -.
DR OrthoDB; 82835at2759; -.
DR PhylomeDB; Q8N6Y1; -.
DR TreeFam; TF320624; -.
DR PathwayCommons; Q8N6Y1; -.
DR SignaLink; Q8N6Y1; -.
DR BioGRID-ORCS; 64881; 9 hits in 1058 CRISPR screens.
DR GeneWiki; PCDH20; -.
DR GenomeRNAi; 64881; -.
DR Pharos; Q8N6Y1; Tbio.
DR PRO; PR:Q8N6Y1; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8N6Y1; protein.
DR Bgee; ENSG00000280165; Expressed in superior frontal gyrus and 91 other tissues.
DR Genevisible; Q8N6Y1; 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:0003723; F:RNA binding; HDA:UniProtKB.
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 InterPro; IPR002126; Cadherin-like_dom.
DR InterPro; IPR015919; Cadherin-like_sf.
DR InterPro; IPR020894; Cadherin_CS.
DR Pfam; PF00028; Cadherin; 5.
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 Calcium; Cell adhesion; Cell membrane; Glycoprotein; Membrane;
KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..60
FT /evidence="ECO:0000255"
FT CHAIN 61..951
FT /note="Protocadherin-20"
FT /id="PRO_0000004005"
FT TOPO_DOM 61..890
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 891..911
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 912..951
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 64..209
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 210..320
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 321..535
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 536..639
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 640..742
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 746..863
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT CARBOHYD 135
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 326
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 332
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 680
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 748
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 803
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 844
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 849
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 523
FT /note="V -> M (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036111"
FT CONFLICT 291
FT /note="I -> T (in Ref. 1; AAF89690)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 951 AA; 104919 MW; E8506B94A686A591 CRC64;
MRGRGNARSS QALGVSWCPA TWHPRLDMGR LHRPRSSTSY RNLPHLFLFF LFVGPFSCLG
SYSRATELLY SLNEGLPAGV LIGSLAEDLR LLPRSAGRPD PQSQLPERTG AEWNPPLSFS
LASRGLSGQY VTLDNRSGEL HTSAQEIDRE ALCVEGGGGT AWSGSVSISS SPSDSCLLLL
DVLVLPQEYF RFVKVKIAIR DINDNAPQFP VSQISVWVPE NAPVNTRLAI EHPAVDPDVG
INGVQTYRLL DYHGMFTLDV EENENGERTP YLIVMGALDR ETQDQYVSII IAEDGGSPPL
LGSATLTIGI SDINDNCPLF TDSQINVTVY GNATVGTPIA AVQAVDKDLG TNAQITYSYS
QKVPQASKDL FHLDENTGVI KLFSKIGGSV LESHKLTILA NGPGCIPAVI TALVSIIKVI
FRPPEIVPRY IANEIDGVVY LKELEPVNTP IAFFTIRDPE GKYKVNCYLD GEGPFRLSPY
KPYNNEYLLE TTKPMDYELQ QFYEVAVVAW NSEGFHVKRV IKVQLLDDND NAPIFLQPLI
ELTIEENNSP NAFLTKLYAT DADSEERGQV SYFLGPDAPS YFSLDSVTGI LTVSTQLDRE
EKEKYRYTVR AVDCGKPPRE SVATVALTVL DKNDNSPRFI NKDFSFFVPE NFPGYGEIGV
ISVTDADAGR NGWVALSVVN QSDIFVIDTG KGMLRAKVSL DREQQSSYTL WVEAVDGGEP
ALSSTAKITI LLLDINDNPP LVLFPQSNMS YLLVLPSTLP GSPVTEVYAV DKDTGMNAVI
AYSIIGRRGP RPESFRIDPK TGNITLEEAL LQTDYGLHRL LVKVSDHGYP EPLHSTVMVN
LFVNDTVSNE SYIESLLRKE PEINIEEKEP QISIEPTHRK VESVSCMPTL VALSVISLGS
ITLVTGMGIY ICLRKGEKHP REDENLEVQI PLKGKIDLHM RERKPMDISN I