O95872 (GPAN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
G patch domain and ankyrin repeat-containing protein 1

Alternative name(s):
Ankyrin repeat domain-containing protein 59
G patch domain-containing protein 10
HLA-B-associated transcript 4
Protein G5

Gene names

Name:	GPANK1
Synonyms:	ANKRD59, BAT4, G5, GPATCH10

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	356 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities

Contains 2 ANK repeats. Contains 1 G-patch domain.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	ANK repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 356	356	G patch domain and ankyrin repeat-containing protein 1		PRO_0000066972
Regions
	Repeat	111 – 141	31	ANK 1
	Repeat	142 – 172	31	ANK 2
	Domain	255 – 301	47	G-patch
Natural variations
	Natural variant	41	1	R → L. Ref.4 Corresponds to variant rs3130618 [ dbSNP | Ensembl ].		VAR_048291
	Natural variant	112	1	A → V. Corresponds to variant rs35265780 [ dbSNP | Ensembl ].		VAR_048292
	Natural variant	210	1	S → A. Corresponds to variant rs34082689 [ dbSNP | Ensembl ].		VAR_048293
	Natural variant	235	1	A → V. Corresponds to variant rs2295666 [ dbSNP | Ensembl ].		VAR_020096
	Natural variant	314	1	T → N Found in a clear cell renal carcinoma case; somatic mutation. Ref.7		VAR_064698

Sequences

	Sequence		Length	Mass (Da)
	O95872 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: AA57AA938A8C10E5	FASTA	356	39,314
	10 20 30 40 50 60 MSRPLLITFT PATDPSDLWK DGQQQPQPEK PESTLDGAAA RAFYEALIGD ESSAPDSQRS 70 80 90 100 110 120 QTEPARERKR KKRRIMKAPA AEAVAEGASG RHGQGRSLEA EDKMTHRILR AAQEGDLPEL 130 140 150 160 170 180 RRLLEPHEAG GAGGNINARD AFWWTPLMCA ARAGQGAAVS YLLGRGAAWV GVCELSGRDA 190 200 210 220 230 240 AQLAEEAGFP EVARMVRESH GETRSPENRS PTPSLQYCEN CDTHFQDSNH RTSTAHLLSL 250 260 270 280 290 300 SQGPQPPNLP LGVPISSPGF KLLLRGGWEP GMGLGPRGEG RANPIPTVLK RDQEGLGYRS 310 320 330 340 350 APQPRVTHFP AWDTRAVAGR ERPPRVATLS WREERRREEK DRAWERDLRT YMNLEF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse." Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D., Hood L. Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region." Shiina S., Tamiya G., Oka A., Inoko H. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The DNA sequence and analysis of human chromosome 6." 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. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-41.
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[7]	"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." 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. Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ASN-314.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF129756 Genomic DNA. Translation: AAD18082.1. BA000025 Genomic DNA. Translation: BAB63387.1. AL670886 Genomic DNA. Translation: CAI17792.1. AL805934 Genomic DNA. Translation: CAI18515.1. AL662899 Genomic DNA. Translation: CAI18385.1. BX511262 Genomic DNA. Translation: CAM45818.1. CR354443 Genomic DNA. Translation: CAQ06995.1. CR759761 Genomic DNA. Translation: CAQ10872.1. CH471081 Genomic DNA. Translation: EAX03467.1. BC008783 mRNA. Translation: AAH08783.1.
IPI	IPI00013201.
RefSeq	NP_001186166.1. NM_001199237.1. NP_001186167.1. NM_001199238.1. NP_001186168.1. NM_001199239.1. NP_001186169.1. NM_001199240.1. NP_149417.1. NM_033177.3.
UniGene	Hs.247478. Hs.732291.
3D structure databases
ProteinModelPortal	O95872.
ModBase	Search...
Protein-protein interaction databases
IntAct	O95872. 2 interactions.
MINT	MINT-1467081.
STRING	9606.ENSP00000390746.
PTM databases
PhosphoSite	O95872.
Proteomic databases
PaxDb	O95872.
PRIDE	O95872.
Protocols and materials databases
DNASU	7918.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000211377; ENSP00000211377; ENSG00000236011. ENST00000375893; ENSP00000365057; ENSG00000204438. ENST00000375895; ENSP00000365059; ENSG00000204438. ENST00000375896; ENSP00000365060; ENSG00000204438. ENST00000375900; ENSP00000365065; ENSG00000204438. ENST00000375906; ENSP00000365071; ENSG00000204438. ENST00000383434; ENSP00000372926; ENSG00000206408. ENST00000383436; ENSP00000372928; ENSG00000206408. ENST00000400129; ENSP00000382994; ENSG00000206408. ENST00000400134; ENSP00000382999; ENSG00000206408. ENST00000400139; ENSP00000383005; ENSG00000206408. ENST00000414528; ENSP00000389339; ENSG00000228605. ENST00000416384; ENSP00000401376; ENSG00000223932. ENST00000417890; ENSP00000415855; ENSG00000232312. ENST00000418502; ENSP00000412321; ENSG00000223932. ENST00000422131; ENSP00000410690; ENSG00000223932. ENST00000426326; ENSP00000398927; ENSG00000228605. ENST00000427527; ENSP00000391604; ENSG00000236011. ENST00000429266; ENSP00000412884; ENSG00000223932. ENST00000433857; ENSP00000406895; ENSG00000236011. ENST00000433880; ENSP00000401272; ENSG00000228605. ENST00000439710; ENSP00000409206; ENSG00000232312. ENST00000440777; ENSP00000399890; ENSG00000223932. ENST00000447705; ENSP00000403829; ENSG00000236011. ENST00000448091; ENSP00000411691; ENSG00000232312. ENST00000449868; ENSP00000393567; ENSG00000232312. ENST00000453746; ENSP00000390746; ENSG00000232312. ENST00000453899; ENSP00000413662; ENSG00000228605. ENST00000456191; ENSP00000401276; ENSG00000236011. ENST00000457505; ENSP00000406507; ENSG00000228605.
GeneID	7918.
KEGG	hsa:7918.
UCSC	uc003nvn.3. human.
Organism-specific databases
CTD	7918.
GeneCards	GC06M031642.
HGNC	HGNC:13920. GPANK1.
HPA	HPA006301.
MIM	142610. gene.
neXtProt	NX_O95872.
PharmGKB	PA25265.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG278677.
HOVERGEN	HBG031112.
InParanoid	O95872.
OMA	WWTPLMC.
OrthoDB	EOG4H4650.
PhylomeDB	O95872.
Gene expression databases
ArrayExpress	O95872.
Bgee	O95872.
CleanEx	HS_BAT4.
Genevestigator	O95872.
GermOnline	ENSG00000204438. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.20. 1 hit.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR000467. G_patch_dom. [Graphical view]
Pfam	PF12796. Ank_2. 1 hit. PF01585. G-patch. 1 hit. [Graphical view]
SMART	SM00248. ANK. 1 hit. SM00443. G_patch. 1 hit. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. False negative. PS50174. G_PATCH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7918.
NextBio	30401.
SOURCE	Search...

Entry information

Entry name

GPAN1_HUMAN

Accession

Primary (citable) accession number: O95872
Secondary accession number(s): A6NG25, B0UXA2, Q5SQ49

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 25, 2002
Last sequence update:	May 1, 1999
Last modified:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.