Q9NR83 (S2A4R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SLC2A4 regulator

Alternative name(s):
GLUT4 enhancer factor
Short name=GEF
Huntington disease gene regulatory region-binding protein 1
Short name=HDBP-1

Gene names

Name:	SLC2A4RG
Synonyms:	HDBP1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	387 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5'-GCCGGCG-3'. Ref.3 Ref.6
Subunit structure	Interacts with MEF2A. Ref.6
Subcellular location	Cytoplasm. Nucleus. Note: Shuttles between the cytoplasm and the nucleus. Ref.3 Ref.6
Tissue specificity	According to Ref.6, expressed in heart, skeletal muscle, liver, kidney and pancreas; undetectable in lung, placenta or brain. According to Ref.3, ubiquitously expressed, with lowest expression in brain and ileum. Ref.3 Ref.6
Sequence similarities	Contains 1 C2H2-type zinc finger.
Sequence caution	The sequence AAH17446.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD29732.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Non-traceable author statement Ref.1. Source: UniProtKB
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NR83-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NR83-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-193: MERPPPRAAG...FGEPTLRKRK → QGWEWGAWCA...WGPRLQPSAQ

Note: Incomplete sequence.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 387	387	SLC2A4 regulator		PRO_0000047208
Regions
	Zinc finger	200 – 225	26	C2H2-type
	Motif	253 – 263	11	Nuclear export signal
	Motif	351 – 354	4	Nuclear localization signal Probable
	Compositional bias	147 – 154	8	Poly-Ser
	Compositional bias	293 – 302	10	Poly-Pro
Natural variations
	Alternative sequence	1 – 193	193	MERPP…LRKRK → QGWEWGAWCARVPRPARGPT RGGAQSSGWVTRTPPPSPPE PPQEKPGWTRSWLPLPLQAC PPALSFWGPRLQPSAQ in isoform 2.		VSP_006880
	Natural variant	233	1	E → D. Ref.1 Ref.3 Ref.5 Corresponds to variant rs8957 [ dbSNP | Ensembl ].		VAR_025005
Experimental info
	Mutagenesis	257	1	L → A: Nuclear; when associated with A-260. Ref.3
	Mutagenesis	260	1	L → A: Nuclear; when associated with A-257. Ref.3
	Mutagenesis	273	1	F → A: Cytoplasmic; when associated with A-276. Ref.3
	Mutagenesis	276	1	L → A: Cytoplasmic; when associated with A-273. Ref.3
	Sequence conflict	117 – 121	5	SPLLL → KPSPS in AAF97516. Ref.1
	Sequence conflict	162	1	A → V in BAD29733. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 24, 2006. Version 4. Checksum: C12F8D1BF629EB3E	FASTA	387	41,267
	10 20 30 40 50 60 MERPPPRAAG RDPSALRAEA PWLRAEGPGP RAAPVTVPTP PQGSSVGGGF AGLEFARPQE 70 80 90 100 110 120 SEPRASDLGA PRTWTGAAAG PRTPSAHIPV PAQRATPGKA RLDEVMAAAA LTSLSTSPLL 130 140 150 160 170 180 LGAPVAAFSP EPGLEPWKEA LVRPPGSYSS SSNSGDWGWD LASDQSSPST PSPPLPPEAA 190 200 210 220 230 240 HFLFGEPTLR KRKSPAQVMF QCLWKSCGKV LSTASAMQRH IRLVHLGRQA EPEQSDGEED 250 260 270 280 290 300 FYYTELDVGV DTLTDGLSSL TPVSPTASMP PAFPRLELPE LLEPPALPSP LRPPAPPLPP 310 320 330 340 350 360 PPVLSTVANP QSCHSDRVYQ GCLTPARLEP QPTEVGACPP ALSSRIGVTL RKPRGDAKKC 370 380 RKVYGMERRD LWCTACRWKK ACQRFLD
	Isoform 2 [UniParc]. Checksum: FBA7424E8FC65AAC	FASTA	270	29,687
	10 20 30 40 50 60 QGWEWGAWCA RVPRPARGPT RGGAQSSGWV TRTPPPSPPE PPQEKPGWTR SWLPLPLQAC 70 80 90 100 110 120 PPALSFWGPR LQPSAQSPAQ VMFQCLWKSC GKVLSTASAM QRHIRLVHLG RQAEPEQSDG 130 140 150 160 170 180 EEDFYYTELD VGVDTLTDGL SSLTPVSPTA SMPPAFPRLE LPELLEPPAL PSPLRPPAPP 190 200 210 220 230 240 LPPPPVLSTV ANPQSCHSDR VYQGCLTPAR LEPQPTEVGA CPPALSSRIG VTLRKPRGDA 250 260 270 KKCRKVYGME RRDLWCTACR WKKACQRFLD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a 30-base pair regulatory element and novel DNA binding protein that regulates the human GLUT4 promoter in transgenic mice." Oshel K.M., Knight J.B., Cao K.T., Thai M.V., Olson A.L. J. Biol. Chem. 275:23666-23673(2000) [PubMed: 10825161] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-233. Tissue: Skeletal muscle.
[2]	Olson A.L., Oshel K.M. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	"Novel nuclear shuttle proteins, HDBP1 and HDBP2, bind to neuronal cell-specific cis-regulatory element in the promoter for the human Huntington's disease gene." Tanaka K., Shouguchi-Miyata J., Miyamoto N., Ikeda J.-E. J. Biol. Chem. 279:7275-7286(2004) [PubMed: 14625278] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASP-233, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-257; LEU-260; PHE-273 AND LEU-276, FUNCTION. Tissue: Testis.
[4]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM 2), VARIANT ASP-233. Tissue: Ovary, Placenta and Prostate.
[6]	"Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A." Knight J.B., Eyster C.A., Griesel B.A., Olson A.L. Proc. Natl. Acad. Sci. U.S.A. 100:14725-14730(2003) [PubMed: 14630949] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH MEF2A, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF249267 mRNA. Translation: AAF97516.2. AB044786 mRNA. Translation: BAD29732.1. Different initiation. AB052777 mRNA. Translation: BAD29733.1. AL121845 Genomic DNA. Translation: CAC44024.1. BC001402 mRNA. Translation: AAH01402.2. BC017446 mRNA. Translation: AAH17446.1. Different initiation. BC028349 mRNA. Translation: AAH28349.2. BC052306 mRNA. Translation: AAH52306.1.
IPI	IPI00221366. IPI00307619.
RefSeq	NP_064446.2. NM_020062.3.
UniGene	Hs.435126.
3D structure databases
ProteinModelPortal	Q9NR83.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NR83.
Polymorphism databases
DMDM	85700401.
Proteomic databases
PRIDE	Q9NR83.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266077; ENSP00000266077; ENSG00000125520.
GeneID	56731.
KEGG	hsa:56731.
UCSC	uc002ygq.1. human. uc002ygs.1. human.
Organism-specific databases
CTD	56731.
GeneCards	GC20P062369.
H-InvDB	HIX0203037.
HGNC	HGNC:15930. SLC2A4RG.
MIM	609493. gene.
neXtProt	NX_Q9NR83.
PharmGKB	PA38052.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00400000022069.
HOVERGEN	HBG061238.
InParanoid	Q9NR83.
OMA	WGWDLAS.
OrthoDB	EOG470TJ5.
PhylomeDB	Q9NR83.
Gene expression databases
ArrayExpress	Q9NR83.
Bgee	Q9NR83.
CleanEx	HS_SLC2A4RG.
Genevestigator	Q9NR83.
GermOnline	ENSG00000125520. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 1 hit.
SMART	SM00355. ZnF_C2H2. 1 hit. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 1 hit. PS50157. ZINC_FINGER_C2H2_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	62208.
SOURCE	Search...

Entry information

Entry name

S2A4R_HUMAN

Accession

Primary (citable) accession number: Q9NR83
Secondary accession number(s): Q6F6I6 , Q6F6I7, Q6GTK5, Q8TAH5, Q8WVW7, Q96QD3, Q9BV85

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 2002
Last sequence update:	January 24, 2006
Last modified:	January 25, 2012
This is version 94 of the entry and version 4 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.