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Protein

SLC2A4 regulator

Gene

SLC2A4RG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5'-GCCGGCG-3'.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri200 – 225C2H2-typePROSITE-ProRule annotationAdd BLAST26

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • DNA-binding transcription factor activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
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 namesi
Name:SLC2A4RG
Synonyms:HDBP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125520.13
HGNCiHGNC:15930 SLC2A4RG
MIMi609493 gene
neXtProtiNX_Q9NR83

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi257L → A: Nuclear; when associated with A-260. 1 Publication1
Mutagenesisi260L → A: Nuclear; when associated with A-257. 1 Publication1
Mutagenesisi273F → A: Cytoplasmic; when associated with A-276. 1 Publication1
Mutagenesisi276L → A: Cytoplasmic; when associated with A-273. 1 Publication1

Organism-specific databases

DisGeNETi56731
OpenTargetsiENSG00000125520
PharmGKBiPA38052

Polymorphism and mutation databases

BioMutaiSLC2A4RG
DMDMi85700401

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000472081 – 387SLC2A4 regulatorAdd BLAST387

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei264PhosphoserineCombined sources1
Modified residuei268PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9NR83
PeptideAtlasiQ9NR83
PRIDEiQ9NR83
ProteomicsDBi82304

PTM databases

iPTMnetiQ9NR83
PhosphoSitePlusiQ9NR83

Expressioni

Tissue specificityi

According to PubMed:14630949, expressed in heart, skeletal muscle, liver, kidney and pancreas; undetectable in lung, placenta or brain. According to PubMed:14625278, ubiquitously expressed, with lowest expression in brain and ileum.2 Publications

Gene expression databases

BgeeiENSG00000125520 Expressed in 206 organ(s), highest expression level in right lobe of liver
CleanExiHS_SLC2A4RG
GenevisibleiQ9NR83 HS

Organism-specific databases

HPAiHPA063050

Interactioni

Subunit structurei

Interacts with MEF2A.1 Publication

Protein-protein interaction databases

BioGridi121193, 2 interactors
STRINGi9606.ENSP00000266077

Structurei

3D structure databases

ProteinModelPortaliQ9NR83
SMRiQ9NR83
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi253 – 263Nuclear export signalAdd BLAST11
Motifi351 – 354Nuclear localization signalCurated4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi147 – 154Poly-Ser8
Compositional biasi293 – 302Poly-Pro10

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri200 – 225C2H2-typePROSITE-ProRule annotationAdd BLAST26

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IV9A Eukaryota
ENOG410Y306 LUCA
GeneTreeiENSGT00400000022069
HOVERGENiHBG061238
InParanoidiQ9NR83
OMAiWGWDLAS
OrthoDBiEOG091G0OAV
PhylomeDBiQ9NR83
TreeFamiTF326610

Family and domain databases

InterProiView protein in InterPro
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 1 hit
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 1 hit
PS50157 ZINC_FINGER_C2H2_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NR83-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MERPPPRAAG RDPSALRAEA PWLRAEGPGP RAAPVTVPTP PQGSSVGGGF
60 70 80 90 100
AGLEFARPQE SEPRASDLGA PRTWTGAAAG PRTPSAHIPV PAQRATPGKA
110 120 130 140 150
RLDEVMAAAA LTSLSTSPLL LGAPVAAFSP EPGLEPWKEA LVRPPGSYSS
160 170 180 190 200
SSNSGDWGWD LASDQSSPST PSPPLPPEAA HFLFGEPTLR KRKSPAQVMF
210 220 230 240 250
QCLWKSCGKV LSTASAMQRH IRLVHLGRQA EPEQSDGEED FYYTELDVGV
260 270 280 290 300
DTLTDGLSSL TPVSPTASMP PAFPRLELPE LLEPPALPSP LRPPAPPLPP
310 320 330 340 350
PPVLSTVANP QSCHSDRVYQ GCLTPARLEP QPTEVGACPP ALSSRIGVTL
360 370 380
RKPRGDAKKC RKVYGMERRD LWCTACRWKK ACQRFLD
Length:387
Mass (Da):41,267
Last modified:January 24, 2006 - v4
Checksum:iC12F8D1BF629EB3E
GO
Isoform 2 (identifier: Q9NR83-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: Missing.

Note: No experimental confirmation available.
Show »
Length:189
Mass (Da):20,874
Checksum:i8B881B6001B3B6B1
GO
Isoform 3 (identifier: Q9NR83-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.

Note: No experimental confirmation available.
Show »
Length:282
Mass (Da):30,512
Checksum:i31E4C39D8ECD369B
GO

Sequence cautioni

The sequence AAH17446 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD29732 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti117 – 121SPLLL → KPSPS in AAF97516 (PubMed:10825161).Curated5
Sequence conflicti162A → V in BAD29733 (PubMed:14625278).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025005233E → D3 PublicationsCorresponds to variant dbSNP:rs8957Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0559081 – 198Missing in isoform 2. 1 PublicationAdd BLAST198
Alternative sequenceiVSP_0559091 – 105Missing in isoform 3. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF249267 mRNA Translation: AAF97516.2
AB044777 mRNA Translation: BAE71373.1
AB044786 mRNA Translation: BAD29732.1 Sequence problems.
AB052777 mRNA Translation: BAD29733.1
AL121845 Genomic DNA No translation available.
BC001402 mRNA Translation: AAH01402.2
BC017446 mRNA Translation: AAH17446.1 Different initiation.
BC028349 mRNA Translation: AAH28349.2
BC052306 mRNA Translation: AAH52306.1
CCDSiCCDS13537.1 [Q9NR83-1]
RefSeqiNP_064446.2, NM_020062.3 [Q9NR83-1]
UniGeneiHs.435126

Genome annotation databases

EnsembliENST00000266077; ENSP00000266077; ENSG00000125520 [Q9NR83-1]
GeneIDi56731
KEGGihsa:56731
UCSCiuc002ygq.4 human [Q9NR83-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF249267 mRNA Translation: AAF97516.2
AB044777 mRNA Translation: BAE71373.1
AB044786 mRNA Translation: BAD29732.1 Sequence problems.
AB052777 mRNA Translation: BAD29733.1
AL121845 Genomic DNA No translation available.
BC001402 mRNA Translation: AAH01402.2
BC017446 mRNA Translation: AAH17446.1 Different initiation.
BC028349 mRNA Translation: AAH28349.2
BC052306 mRNA Translation: AAH52306.1
CCDSiCCDS13537.1 [Q9NR83-1]
RefSeqiNP_064446.2, NM_020062.3 [Q9NR83-1]
UniGeneiHs.435126

3D structure databases

ProteinModelPortaliQ9NR83
SMRiQ9NR83
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121193, 2 interactors
STRINGi9606.ENSP00000266077

PTM databases

iPTMnetiQ9NR83
PhosphoSitePlusiQ9NR83

Polymorphism and mutation databases

BioMutaiSLC2A4RG
DMDMi85700401

Proteomic databases

PaxDbiQ9NR83
PeptideAtlasiQ9NR83
PRIDEiQ9NR83
ProteomicsDBi82304

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266077; ENSP00000266077; ENSG00000125520 [Q9NR83-1]
GeneIDi56731
KEGGihsa:56731
UCSCiuc002ygq.4 human [Q9NR83-1]

Organism-specific databases

CTDi56731
DisGeNETi56731
EuPathDBiHostDB:ENSG00000125520.13
GeneCardsiSLC2A4RG
HGNCiHGNC:15930 SLC2A4RG
HPAiHPA063050
MIMi609493 gene
neXtProtiNX_Q9NR83
OpenTargetsiENSG00000125520
PharmGKBiPA38052
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IV9A Eukaryota
ENOG410Y306 LUCA
GeneTreeiENSGT00400000022069
HOVERGENiHBG061238
InParanoidiQ9NR83
OMAiWGWDLAS
OrthoDBiEOG091G0OAV
PhylomeDBiQ9NR83
TreeFamiTF326610

Miscellaneous databases

ChiTaRSiSLC2A4RG human
GeneWikiiSLC2A4RG
GenomeRNAii56731
PROiPR:Q9NR83
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125520 Expressed in 206 organ(s), highest expression level in right lobe of liver
CleanExiHS_SLC2A4RG
GenevisibleiQ9NR83 HS

Family and domain databases

InterProiView protein in InterPro
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 1 hit
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 1 hit
PS50157 ZINC_FINGER_C2H2_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS2A4R_HUMAN
AccessioniPrimary (citable) accession number: Q9NR83
Secondary accession number(s): Q2PHL5
, Q6F6I6, Q6F6I7, Q6GTK5, Q8TAH5, Q8WVW7, Q96QD3, Q9BV85
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 2002
Last sequence update: January 24, 2006
Last modified: November 7, 2018
This is version 144 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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