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Protein

SLC2A4 regulator

Gene

SLC2A4RG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • metal ion binding Source: UniProtKB-KW
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125520-MONOMER.

Protein family/group databases

TCDBi3.A.20.1.3. the peroxisomal protein importer (ppi) family.

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

HGNCiHGNC:15930. SLC2A4RG.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

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.

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.
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

Sequence similaritiesi

Contains 1 C2H2-type zinc finger.PROSITE-ProRule annotation

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

InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 1 hit.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]

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 → D.3 PublicationsCorresponds to variant rs8957dbSNPEnsembl.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. 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.
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

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. 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.
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.

Protein family/group databases

TCDBi3.A.20.1.3. the peroxisomal protein importer (ppi) family.

PTM databases

iPTMnetiQ9NR83.
PhosphoSitePlusiQ9NR83.

Polymorphism and mutation databases

BioMutaiSLC2A4RG.
DMDMi85700401.

Proteomic databases

PaxDbiQ9NR83.
PeptideAtlasiQ9NR83.
PRIDEiQ9NR83.

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.
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.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125520-MONOMER.

Miscellaneous databases

ChiTaRSiSLC2A4RG. human.
GeneWikiiSLC2A4RG.
GenomeRNAii56731.
PROiQ9NR83.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125520.
CleanExiHS_SLC2A4RG.
GenevisibleiQ9NR83. HS.

Family and domain databases

InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 1 hit.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiS2A4R_HUMAN
AccessioniPrimary (citable) accession number: Q9NR83
Secondary accession number(s): Q2PHL5
, Q6F6I6, Q6F6I7, Q6GTK5, Q8TAH5, Q8WVW7, Q96QD3, Q9BV85
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 2002
Last sequence update: January 24, 2006
Last modified: November 2, 2016
This is version 133 of the entry and version 4 of the sequence. [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 chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.