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Entry version 185 (05 Jun 2019)
Sequence version 1 (01 Jun 1998)
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Protein

Glucose-6-phosphate exchanger SLC37A4

Gene

SLC37A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by vanadate and chlorogenic acid.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAntiport, Sugar transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3229133 Glycogen storage disease type Ib (SLC37A4)
R-HSA-70263 Gluconeogenesis

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.1.4.5 the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glucose-6-phosphate exchanger SLC37A42 Publications
Alternative name(s):
Glucose-5-phosphate transporter
Glucose-6-phosphate translocase1 Publication
Solute carrier family 37 member 4Imported
Transformation-related gene 19 proteinImported
Short name:
TRG-19Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC37A4Imported
Synonyms:G6PT, G6PT1
ORF Names:PRO0685, TRG19Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4061 SLC37A4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602671 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43826

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei84 – 104HelicalSequence analysisAdd BLAST21
Transmembranei105 – 125HelicalSequence analysisAdd BLAST21
Transmembranei139 – 159HelicalSequence analysisAdd BLAST21
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Transmembranei260 – 280HelicalSequence analysisAdd BLAST21
Transmembranei302 – 322HelicalSequence analysisAdd BLAST21
Transmembranei329 – 349HelicalSequence analysisAdd BLAST21
Transmembranei368 – 388HelicalSequence analysisAdd BLAST21
Transmembranei394 – 414HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glycogen storage disease 1B (GSD1B)21 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02558120G → D in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302881EnsemblClinVar.1
Natural variantiVAR_02558224Y → H in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302887EnsemblClinVar.1
Natural variantiVAR_02558327N → K in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302889EnsemblClinVar.1
Natural variantiVAR_02558428R → C in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302882EnsemblClinVar.1
Natural variantiVAR_01684028R → H in GSD1B; inactive glucose-6-phosphate transport. 2 PublicationsCorresponds to variant dbSNP:rs121908978EnsemblClinVar.1
Natural variantiVAR_06639450G → E in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302877EnsemblClinVar.1
Natural variantiVAR_02558550G → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302894EnsemblClinVar.1
Natural variantiVAR_02558654S → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302898EnsemblClinVar.1
Natural variantiVAR_02558755S → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302884EnsemblClinVar.1
Natural variantiVAR_02558868G → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302885EnsemblClinVar.1
Natural variantiVAR_02558985L → P in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302899EnsemblClinVar.1
Natural variantiVAR_02559088G → D in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302886EnsemblClinVar.1
Natural variantiVAR_007850118W → R in GSD1B. 4 PublicationsCorresponds to variant dbSNP:rs80356489EnsemblClinVar.1
Natural variantiVAR_066395148A → V in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302879EnsemblClinVar.1
Natural variantiVAR_003184149G → E in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302892EnsemblClinVar.1
Natural variantiVAR_025592150G → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302883EnsemblClinVar.1
Natural variantiVAR_025593153P → L in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302890EnsemblClinVar.1
Natural variantiVAR_025594176C → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302895EnsemblClinVar.1
Natural variantiVAR_025595183C → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302893EnsemblClinVar.1
Natural variantiVAR_032113191P → L in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302888EnsemblClinVar.1
Natural variantiVAR_025597229L → P in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302902EnsemblClinVar.1
Natural variantiVAR_012356235Missing in GSD1B. 1 Publication1
Natural variantiVAR_066396246W → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302878EnsemblClinVar.1
Natural variantiVAR_025598278I → N in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302900EnsemblClinVar.1
Natural variantiVAR_066397300R → C in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302880EnsemblClinVar.1
Natural variantiVAR_025599300R → H in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302903EnsemblClinVar.1
Natural variantiVAR_025600301H → P in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302891EnsemblClinVar.1
Natural variantiVAR_003185339G → C in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs80356490EnsemblClinVar.1
Natural variantiVAR_025601339G → D in GSD1B. 2 PublicationsCorresponds to variant dbSNP:rs121908980EnsemblClinVar.1
Natural variantiVAR_025602367A → T in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs80356492EnsemblClinVar.1
Natural variantiVAR_025603373A → D in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302901EnsemblClinVar.1
Glycogen storage disease 1C (GSD1C)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025591133Q → P in GSD1C. 1 PublicationCorresponds to variant dbSNP:rs193302896EnsemblClinVar.1
Natural variantiVAR_025604376G → S in GSD1C. 1 PublicationCorresponds to variant dbSNP:rs193302897EnsemblClinVar.1
Glycogen storage disease 1D (GSD1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
2542

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC37A4

MalaCards human disease database

More...
MalaCardsi
SLC37A4
MIMi232220 phenotype
232240 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28472

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3217398

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC37A4

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001998911 – 429Glucose-6-phosphate exchanger SLC37A4Add BLAST429

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O43826

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O43826

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43826

PeptideAtlas

More...
PeptideAtlasi
O43826

PRoteomics IDEntifications database

More...
PRIDEi
O43826

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49192
49193 [O43826-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43826

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43826

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mostly expressed in liver and kidney.

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038939
HPA038940

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108817, 3 interactors

Protein interaction database and analysis system

More...
IntActi
O43826, 4 interactors

Molecular INTeraction database

More...
MINTi
O43826

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000476176

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000274730

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43826

KEGG Orthology (KO)

More...
KOi
K08171

Database of Orthologous Groups

More...
OrthoDBi
621600at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43826

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06174 MFS, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
IPR021159 Sugar-P_transporter_CS
IPR000849 Sugar_P_transporter

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07690 MFS_1, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF002808 Hexose_phosphate_transp, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00942 GLPT, 1 hit
PS50850 MFS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43826-1) [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
MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG
60 70 80 90 100
FITSSQSAAY AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV
110 120 130 140 150
PVFAALWFLN GLAQGLGWPP CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG
160 170 180 190 200
LGPILATILA QSYSWRSTLA LSGALCVVVS FLCLLLIHNE PADVGLRNLD
210 220 230 240 250
PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK TCCTDWGQFF
260 270 280 290 300
LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR
310 320 330 340 350
HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG
360 370 380 390 400
VIANESAPPN LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA
410 420
EVICAASTAA FFLLRNIRTK MGRVSKKAE
Length:429
Mass (Da):46,360
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC0399332FE72694B
GO
Isoform 2 (identifier: O43826-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-328: K → KDVAFWTLALHPLAELTGFTEHE

Show »
Length:451
Mass (Da):48,840
Checksum:iA5696ADCDC67D90A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
U3KQS2U3KQS2_HUMAN
Glucose-6-phosphate exchanger SLC37...
SLC37A4
451Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KPU7U3KPU7_HUMAN
Glucose-6-phosphate exchanger SLC37...
SLC37A4
429Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQL4U3KQL4_HUMAN
Glucose-6-phosphate exchanger SLC37...
SLC37A4
356Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF16691 differs from that shown. Reason: Frameshift at position 128.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti109L → F in AAD19898 (PubMed:10026167).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02558120G → D in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302881EnsemblClinVar.1
Natural variantiVAR_02558224Y → H in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302887EnsemblClinVar.1
Natural variantiVAR_02558327N → K in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302889EnsemblClinVar.1
Natural variantiVAR_02558428R → C in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302882EnsemblClinVar.1
Natural variantiVAR_01684028R → H in GSD1B; inactive glucose-6-phosphate transport. 2 PublicationsCorresponds to variant dbSNP:rs121908978EnsemblClinVar.1
Natural variantiVAR_06639450G → E in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302877EnsemblClinVar.1
Natural variantiVAR_02558550G → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302894EnsemblClinVar.1
Natural variantiVAR_02558654S → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302898EnsemblClinVar.1
Natural variantiVAR_02558755S → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302884EnsemblClinVar.1
Natural variantiVAR_02558868G → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302885EnsemblClinVar.1
Natural variantiVAR_02558985L → P in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302899EnsemblClinVar.1
Natural variantiVAR_02559088G → D in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302886EnsemblClinVar.1
Natural variantiVAR_007850118W → R in GSD1B. 4 PublicationsCorresponds to variant dbSNP:rs80356489EnsemblClinVar.1
Natural variantiVAR_025591133Q → P in GSD1C. 1 PublicationCorresponds to variant dbSNP:rs193302896EnsemblClinVar.1
Natural variantiVAR_066395148A → V in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302879EnsemblClinVar.1
Natural variantiVAR_003184149G → E in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302892EnsemblClinVar.1
Natural variantiVAR_025592150G → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302883EnsemblClinVar.1
Natural variantiVAR_025593153P → L in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302890EnsemblClinVar.1
Natural variantiVAR_025594176C → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302895EnsemblClinVar.1
Natural variantiVAR_025595183C → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302893EnsemblClinVar.1
Natural variantiVAR_032113191P → L in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302888EnsemblClinVar.1
Natural variantiVAR_025596198N → I1 PublicationCorresponds to variant dbSNP:rs34203644EnsemblClinVar.1
Natural variantiVAR_025597229L → P in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302902EnsemblClinVar.1
Natural variantiVAR_012356235Missing in GSD1B. 1 Publication1
Natural variantiVAR_066396246W → R in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302878EnsemblClinVar.1
Natural variantiVAR_025598278I → N in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302900EnsemblClinVar.1
Natural variantiVAR_066397300R → C in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302880EnsemblClinVar.1
Natural variantiVAR_025599300R → H in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302903EnsemblClinVar.1
Natural variantiVAR_025600301H → P in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302891EnsemblClinVar.1
Natural variantiVAR_003185339G → C in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs80356490EnsemblClinVar.1
Natural variantiVAR_025601339G → D in GSD1B. 2 PublicationsCorresponds to variant dbSNP:rs121908980EnsemblClinVar.1
Natural variantiVAR_025602367A → T in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs80356492EnsemblClinVar.1
Natural variantiVAR_025603373A → D in GSD1B. 1 PublicationCorresponds to variant dbSNP:rs193302901EnsemblClinVar.1
Natural variantiVAR_025604376G → S in GSD1C. 1 PublicationCorresponds to variant dbSNP:rs193302897EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006171328K → KDVAFWTLALHPLAELTGFT EHE in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y15409 mRNA Translation: CAA75608.1
AF078163 Genomic DNA Translation: AAC72916.1
AF097831 Genomic DNA Translation: AAD19898.1
AF111852 mRNA Translation: AAF16691.1 Frameshift.
AF110819 mRNA Translation: AAF37735.1
AF110820 mRNA Translation: AAF37736.1
Y17864 Genomic DNA Translation: CAA76898.1
AF116864, AF116862, AF116863 Genomic DNA Translation: AAD13111.1
AY423732 mRNA Translation: AAS00495.1
CH471065 Genomic DNA Translation: EAW67432.1
BC002400 mRNA Translation: AAH02400.1
BC003589 mRNA Translation: AAH03589.1
BC014663 mRNA Translation: AAH14663.1
BC015650 mRNA Translation: AAH15650.1
BC064563 mRNA Translation: AAH64563.1

NCBI Reference Sequences

More...
RefSeqi
NP_001157749.1, NM_001164277.1 [O43826-1]
NP_001157750.1, NM_001164278.1 [O43826-2]
NP_001157751.1, NM_001164279.1
NP_001157752.1, NM_001164280.1 [O43826-1]
NP_001458.1, NM_001467.5 [O43826-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000631372; ENSP00000486168; ENSG00000281500 [O43826-2]
ENST00000642844; ENSP00000493469; ENSG00000281500 [O43826-1]
ENST00000644666; ENSP00000494243; ENSG00000281500 [O43826-2]
ENST00000645735; ENSP00000495653; ENSG00000281500 [O43826-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2542

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2542

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mendelian genes solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15409 mRNA Translation: CAA75608.1
AF078163 Genomic DNA Translation: AAC72916.1
AF097831 Genomic DNA Translation: AAD19898.1
AF111852 mRNA Translation: AAF16691.1 Frameshift.
AF110819 mRNA Translation: AAF37735.1
AF110820 mRNA Translation: AAF37736.1
Y17864 Genomic DNA Translation: CAA76898.1
AF116864, AF116862, AF116863 Genomic DNA Translation: AAD13111.1
AY423732 mRNA Translation: AAS00495.1
CH471065 Genomic DNA Translation: EAW67432.1
BC002400 mRNA Translation: AAH02400.1
BC003589 mRNA Translation: AAH03589.1
BC014663 mRNA Translation: AAH14663.1
BC015650 mRNA Translation: AAH15650.1
BC064563 mRNA Translation: AAH64563.1
RefSeqiNP_001157749.1, NM_001164277.1 [O43826-1]
NP_001157750.1, NM_001164278.1 [O43826-2]
NP_001157751.1, NM_001164279.1
NP_001157752.1, NM_001164280.1 [O43826-1]
NP_001458.1, NM_001467.5 [O43826-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi108817, 3 interactors
IntActiO43826, 4 interactors
MINTiO43826
STRINGi9606.ENSP00000476176

Chemistry databases

ChEMBLiCHEMBL3217398

Protein family/group databases

TCDBi2.A.1.4.5 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiO43826
PhosphoSitePlusiO43826

Polymorphism and mutation databases

BioMutaiSLC37A4

Proteomic databases

EPDiO43826
jPOSTiO43826
MaxQBiO43826
PeptideAtlasiO43826
PRIDEiO43826
ProteomicsDBi49192
49193 [O43826-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2542
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000631372; ENSP00000486168; ENSG00000281500 [O43826-2]
ENST00000642844; ENSP00000493469; ENSG00000281500 [O43826-1]
ENST00000644666; ENSP00000494243; ENSG00000281500 [O43826-2]
ENST00000645735; ENSP00000495653; ENSG00000281500 [O43826-1]
GeneIDi2542
KEGGihsa:2542

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2542
DisGeNETi2542

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SLC37A4
GeneReviewsiSLC37A4
HGNCiHGNC:4061 SLC37A4
HPAiHPA038939
HPA038940
MalaCardsiSLC37A4
MIMi232220 phenotype
232240 phenotype
602671 gene
neXtProtiNX_O43826
Orphaneti79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
PharmGKBiPA28472

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

HOGENOMiHOG000274730
InParanoidiO43826
KOiK08171
OrthoDBi621600at2759
PhylomeDBiO43826

Enzyme and pathway databases

ReactomeiR-HSA-3229133 Glycogen storage disease type Ib (SLC37A4)
R-HSA-70263 Gluconeogenesis

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SLC37A4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2542

Protein Ontology

More...
PROi
PR:O43826

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
IPR021159 Sugar-P_transporter_CS
IPR000849 Sugar_P_transporter
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
PIRSFiPIRSF002808 Hexose_phosphate_transp, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS00942 GLPT, 1 hit
PS50850 MFS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiG6PT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43826
Secondary accession number(s): O96016
, Q5J7V4, Q9UI19, Q9UNS4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: June 5, 2019
This is version 185 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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