SLC25A11 solute carrier family 25 member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A11provided by HGNC
Official Full Name: solute carrier family 25 member 11provided by HGNC
Primary source: HGNC:HGNC:10981
See related: Ensembl:ENSG00000108528 MIM:604165; AllianceGenome:HGNC:10981
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OGC; PGL6; PPGL6; SLC20A4
Summary: The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
Expression: Ubiquitous expression in heart (RPKM 61.1), kidney (RPKM 32.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4937130..4940046, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4827477..4830394, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4840425..4843341, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

data show that SLC25A11 is a novel paraganglioma susceptibility gene for which loss of function correlates with metastatic presentation
Title: Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.
Cancer cells critically depended on the oxoglutarate carrier SLC25A11 for transporting NADH from cytosol to mitochondria as a malate form for the purpose of ATP production
Title: Loss of SLC25A11 causes suppression of NSCLC and melanoma tumor formation.
The Network analyses identified SLC25A11expression in temporal cortex in patient with late-onset Alzheimer's disease.
Title: Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
OGC as a model protein for understanding the transport mechanism of mitochondrial carriers.
Title: The mitochondrial oxoglutarate carrier: from identification to mechanism.
OGCP degrades through proteasome and lysosome degradation pathways. The degradation of parkin protein can promote the degradation of OGCP.
Title: [Metabolic pathways of OGCP and the influence of parkin protein on the metabolism of OGCP].
Controlling MISC-1/OGC function allows regulation of mitochondrial morphology and cell survival decisions by the metabolic needs of the cell.
Title: MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
porphyrin accumulation in mitochondria is mediated by OGC and porphyrins are able to competitively inhibit 2-oxoglutarate uptake into mitochondria
Title: Porphyrin accumulation in mitochondria is mediated by 2-oxoglutarate carrier.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Paragangliomas 6 MedGen: C5193112 OMIM: 618464 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify mitochondrial 2-oxoglutarate/malate carrier protein (SLC25A11), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11767 (e-PCR)
- UniSTS:36637

MARC_2889-2890:991933627:9 (e-PCR)
- UniSTS:230970

MARC_2889-2890:997288235:1 (e-PCR)
- UniSTS:230970

SHGC-31613 (e-PCR)
- UniSTS:65107

SLC25A11_3257.2 (e-PCR)
- UniSTS:468133

STS-T79192 (e-PCR)
- UniSTS:8668

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables malate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxaloacetate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxoglutarate:malate antiporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables succinate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables thiosulfate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in alpha-ketoglutarate transport	IEA Inferred from Electronic Annotation more info
involved_in gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in malate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxaloacetate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxaloacetate(2-) transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in succinate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sulfate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sulfate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in thiosulfate transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: mitochondrial 2-oxoglutarate/malate carrier protein

Names: OGCP; alpha-oxoglutarate carrier; solute carrier family 20 (oxoglutarate carrier), member 4; solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001165417.2 → NP_001158889.1 mitochondrial 2-oxoglutarate/malate carrier protein isoform 2

See identical proteins and their annotated locations for NP_001158889.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AA937945, AK290376, BM047391, CB155476

UniProtKB/TrEMBL

I3L1P8

Related

ENSP00000458993.1, ENST00000576951.1

Conserved Domains (1) summary

pfam00153
Location:105 → 202

Mito_carr; Mitochondrial carrier protein
NM_001165418.2 → NP_001158890.1 mitochondrial 2-oxoglutarate/malate carrier protein isoform 3

See identical proteins and their annotated locations for NP_001158890.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AA937945, AK290376, BI752999, CB155476

Consensus CDS

CCDS54069.1

UniProtKB/TrEMBL

I3L1P8

Related

ENSP00000440804.2, ENST00000544061.6

Conserved Domains (1) summary

pfam00153
Location:65 → 162

Mito_carr; Mitochondrial carrier protein
NM_003562.5 → NP_003553.2 mitochondrial 2-oxoglutarate/malate carrier protein isoform 1

See identical proteins and their annotated locations for NP_003553.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA937945, AK290376, CB155476

Consensus CDS

CCDS11059.1

UniProtKB/Swiss-Prot

F5GY65, O75537, Q02978, Q969P7

UniProtKB/TrEMBL

I3L1P8, Q6IBH0

Related

ENSP00000225665.7, ENST00000225665.12

Conserved Domains (1) summary

pfam00153
Location:24 → 102

Mito_carr; Mitochondrial carrier protein