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G patch domain and ankyrin repeat-containing protein 1 (Ankyrin repeat domain-containing protein 59) (G patch domain-containing protein 10) (HLA-B-associated transcript 4) (Protein G5)

 GPAN1_HUMAN             Reviewed;         356 AA.
O95872; A6NG25; B0UXA2; Q5SQ49;
25-OCT-2002, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
07-NOV-2018, entry version 151.
RecName: Full=G patch domain and ankyrin repeat-containing protein 1;
AltName: Full=Ankyrin repeat domain-containing protein 59;
AltName: Full=G patch domain-containing protein 10;
AltName: Full=HLA-B-associated transcript 4;
AltName: Full=Protein G5;
Name=GPANK1; Synonyms=ANKRD59, BAT4, G5, GPATCH10;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14656967; DOI=10.1101/gr.1736803;
Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S.,
Campbell R.D., Hood L.;
"Analysis of the gene-dense major histocompatibility complex class III
region and its comparison to mouse.";
Genome Res. 13:2621-2636(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Shiina S., Tamiya G., Oka A., Inoko H.;
"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-41.
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[7]
SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-290, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=28112733; DOI=10.1038/nsmb.3366;
Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
Nielsen M.L.;
"Site-specific mapping of the human SUMO proteome reveals co-
modification with phosphorylation.";
Nat. Struct. Mol. Biol. 24:325-336(2017).
[8]
VARIANT ASN-314.
PubMed=21248752; DOI=10.1038/nature09639;
Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P.,
Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A.,
Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C.,
Jia M., Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A.,
Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S.,
Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A.,
Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C.,
Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R.,
Futreal P.A.;
"Exome sequencing identifies frequent mutation of the SWI/SNF complex
gene PBRM1 in renal carcinoma.";
Nature 469:539-542(2011).
-!- INTERACTION:
Q52MB2:CCDC184; NbExp=5; IntAct=EBI-751540, EBI-10179526;
Q08379:GOLGA2; NbExp=3; IntAct=EBI-751540, EBI-618309;
Q9BRK4:LZTS2; NbExp=3; IntAct=EBI-751540, EBI-741037;
Q8ND90:PNMA1; NbExp=3; IntAct=EBI-751540, EBI-302345;
Q12800:TFCP2; NbExp=3; IntAct=EBI-751540, EBI-717422;
P36406:TRIM23; NbExp=5; IntAct=EBI-751540, EBI-740098;
P14373:TRIM27; NbExp=5; IntAct=EBI-751540, EBI-719493;
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EMBL; AF129756; AAD18082.1; -; Genomic_DNA.
EMBL; BA000025; BAB63387.1; -; Genomic_DNA.
EMBL; AL670886; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL805934; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL662899; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BX511262; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CR354443; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CR759761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471081; EAX03467.1; -; Genomic_DNA.
EMBL; BC008783; AAH08783.1; -; mRNA.
CCDS; CCDS4711.1; -.
RefSeq; NP_001186166.1; NM_001199237.1.
RefSeq; NP_001186167.1; NM_001199238.1.
RefSeq; NP_001186168.1; NM_001199239.1.
RefSeq; NP_001186169.1; NM_001199240.1.
RefSeq; NP_149417.1; NM_033177.3.
RefSeq; XP_005249460.1; XM_005249403.3.
RefSeq; XP_006715267.1; XM_006715204.1.
RefSeq; XP_011513211.1; XM_011514909.1.
RefSeq; XP_011513212.1; XM_011514910.1.
UniGene; Hs.247478; -.
UniGene; Hs.732291; -.
ProteinModelPortal; O95872; -.
SMR; O95872; -.
BioGrid; 113648; 18.
IntAct; O95872; 84.
MINT; O95872; -.
STRING; 9606.ENSP00000365057; -.
iPTMnet; O95872; -.
PhosphoSitePlus; O95872; -.
BioMuta; GPANK1; -.
EPD; O95872; -.
MaxQB; O95872; -.
PaxDb; O95872; -.
PeptideAtlas; O95872; -.
PRIDE; O95872; -.
ProteomicsDB; 51112; -.
DNASU; 7918; -.
Ensembl; ENST00000211377; ENSP00000211377; ENSG00000236011.
Ensembl; ENST00000375893; ENSP00000365057; ENSG00000204438.
Ensembl; ENST00000375895; ENSP00000365059; ENSG00000204438.
Ensembl; ENST00000375896; ENSP00000365060; ENSG00000204438.
Ensembl; ENST00000375900; ENSP00000365065; ENSG00000204438.
Ensembl; ENST00000375906; ENSP00000365071; ENSG00000204438.
Ensembl; ENST00000383434; ENSP00000372926; ENSG00000206408.
Ensembl; ENST00000383436; ENSP00000372928; ENSG00000206408.
Ensembl; ENST00000400129; ENSP00000382994; ENSG00000206408.
Ensembl; ENST00000400134; ENSP00000382999; ENSG00000206408.
Ensembl; ENST00000400139; ENSP00000383005; ENSG00000206408.
Ensembl; ENST00000414528; ENSP00000389339; ENSG00000228605.
Ensembl; ENST00000416384; ENSP00000401376; ENSG00000223932.
Ensembl; ENST00000417890; ENSP00000415855; ENSG00000232312.
Ensembl; ENST00000418502; ENSP00000412321; ENSG00000223932.
Ensembl; ENST00000422131; ENSP00000410690; ENSG00000223932.
Ensembl; ENST00000426326; ENSP00000398927; ENSG00000228605.
Ensembl; ENST00000427527; ENSP00000391604; ENSG00000236011.
Ensembl; ENST00000429266; ENSP00000412884; ENSG00000223932.
Ensembl; ENST00000433857; ENSP00000406895; ENSG00000236011.
Ensembl; ENST00000433880; ENSP00000401272; ENSG00000228605.
Ensembl; ENST00000439710; ENSP00000409206; ENSG00000232312.
Ensembl; ENST00000440777; ENSP00000399890; ENSG00000223932.
Ensembl; ENST00000447705; ENSP00000403829; ENSG00000236011.
Ensembl; ENST00000448091; ENSP00000411691; ENSG00000232312.
Ensembl; ENST00000449868; ENSP00000393567; ENSG00000232312.
Ensembl; ENST00000453746; ENSP00000390746; ENSG00000232312.
Ensembl; ENST00000453899; ENSP00000413662; ENSG00000228605.
Ensembl; ENST00000456191; ENSP00000401276; ENSG00000236011.
Ensembl; ENST00000457505; ENSP00000406507; ENSG00000228605.
GeneID; 7918; -.
KEGG; hsa:7918; -.
UCSC; uc003nvn.4; human.
CTD; 7918; -.
DisGeNET; 7918; -.
EuPathDB; HostDB:ENSG00000204438.10; -.
GeneCards; GPANK1; -.
HGNC; HGNC:13920; GPANK1.
HPA; HPA006301; -.
MIM; 142610; gene.
neXtProt; NX_O95872; -.
OpenTargets; ENSG00000204438; -.
PharmGKB; PA25265; -.
eggNOG; KOG2384; Eukaryota.
eggNOG; ENOG410ZSRX; LUCA.
GeneTree; ENSGT00390000003292; -.
HOVERGEN; HBG031112; -.
InParanoid; O95872; -.
OMA; DLRTYMN; -.
OrthoDB; EOG091G0LFY; -.
PhylomeDB; O95872; -.
TreeFam; TF315384; -.
ChiTaRS; GPANK1; human.
GeneWiki; BAT4; -.
GenomeRNAi; 7918; -.
PRO; PR:O95872; -.
Proteomes; UP000005640; Chromosome 6.
Bgee; ENSG00000204438; Expressed in 199 organ(s), highest expression level in testis.
CleanEx; HS_BAT4; -.
ExpressionAtlas; O95872; baseline and differential.
Genevisible; O95872; HS.
GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
CDD; cd00204; ANK; 1.
Gene3D; 1.25.40.20; -; 1.
InterPro; IPR020683; Ankyrin_rpt-contain_dom.
InterPro; IPR036770; Ankyrin_rpt-contain_sf.
InterPro; IPR000467; G_patch_dom.
InterPro; IPR039146; GPANK1.
PANTHER; PTHR20923; PTHR20923; 1.
Pfam; PF01585; G-patch; 1.
SMART; SM00443; G_patch; 1.
SUPFAM; SSF48403; SSF48403; 1.
PROSITE; PS50297; ANK_REP_REGION; 1.
PROSITE; PS50174; G_PATCH; 1.
1: Evidence at protein level;
ANK repeat; Complete proteome; Isopeptide bond; Polymorphism;
Reference proteome; Repeat; Ubl conjugation.
CHAIN 1 356 G patch domain and ankyrin repeat-
containing protein 1.
/FTId=PRO_0000066972.
REPEAT 111 141 ANK 1.
REPEAT 142 172 ANK 2.
DOMAIN 255 301 G-patch. {ECO:0000255|PROSITE-
ProRule:PRU00092}.
CROSSLNK 290 290 Glycyl lysine isopeptide (Lys-Gly)
(interchain with G-Cter in SUMO2).
{ECO:0000244|PubMed:28112733}.
VARIANT 41 41 R -> L (in dbSNP:rs3130618).
{ECO:0000269|PubMed:14574404}.
/FTId=VAR_048291.
VARIANT 112 112 A -> V (in dbSNP:rs35265780).
/FTId=VAR_048292.
VARIANT 210 210 S -> A (in dbSNP:rs34082689).
/FTId=VAR_048293.
VARIANT 235 235 A -> V (in dbSNP:rs2295666).
/FTId=VAR_020096.
VARIANT 314 314 T -> N (found in a clear cell renal
carcinoma case; somatic mutation).
{ECO:0000269|PubMed:21248752}.
/FTId=VAR_064698.
SEQUENCE 356 AA; 39314 MW; AA57AA938A8C10E5 CRC64;
MSRPLLITFT PATDPSDLWK DGQQQPQPEK PESTLDGAAA RAFYEALIGD ESSAPDSQRS
QTEPARERKR KKRRIMKAPA AEAVAEGASG RHGQGRSLEA EDKMTHRILR AAQEGDLPEL
RRLLEPHEAG GAGGNINARD AFWWTPLMCA ARAGQGAAVS YLLGRGAAWV GVCELSGRDA
AQLAEEAGFP EVARMVRESH GETRSPENRS PTPSLQYCEN CDTHFQDSNH RTSTAHLLSL
SQGPQPPNLP LGVPISSPGF KLLLRGGWEP GMGLGPRGEG RANPIPTVLK RDQEGLGYRS
APQPRVTHFP AWDTRAVAGR ERPPRVATLS WREERRREEK DRAWERDLRT YMNLEF


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