SLC25A1 solute carrier family 25 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A1provided by HGNC
Official Full Name: solute carrier family 25 member 1provided by HGNC
Primary source: HGNC:HGNC:10979
See related: Ensembl:ENSG00000100075 MIM:190315; AllianceGenome:HGNC:10979
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CIC; CTP; SEA; CMS23; D2L2AD; SLC20A3
Summary: This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Expression: Ubiquitous expression in fat (RPKM 63.8), kidney (RPKM 36.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19175581..19178736, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (19551495..19554686, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19163094..19166249, complement)

Chromosome 22 - NC_000022.11 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?

Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.
Title: Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.
The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.
Title: The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.
Targeting Citrate Carrier (CIC) in Inflammatory Macrophages as a Novel Metabolic Approach in COVID-19 Patients: A Perspective.
Title: Targeting Citrate Carrier (CIC) in Inflammatory Macrophages as a Novel Metabolic Approach in COVID-19 Patients: A Perspective.
Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.
Title: Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Title: Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Title: Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Mitochondrial SLC25 Carriers: Novel Targets for Cancer Therapy.
Title: Mitochondrial SLC25 Carriers: Novel Targets for Cancer Therapy.
SLC25A1 plays a key role in maintaining the mitochondrial pool of citrate and redox balance in cancer stem cells (CSCs), whereas its inhibition leads to reactive oxygen species build-up thereby inhibiting the self-renewal capability of CSCs.
Title: The mitochondrial citrate carrier, SLC25A1, drives stemness and therapy resistance in non-small cell lung cancer.
High expression of mitochondrial citrate transporter was associated with invasion and advanced tumor stage across many human cancers.
Title: Extracellular Citrate Affects Critical Elements of Cancer Cell Metabolism and Supports Cancer Development In Vivo.
SLC25A1 mutations might be associated with mitochondrial complex V deficiency and should be considered in the differential diagnosis of mitochondrial respiratory chain defects.
Title: A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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
Congenital myasthenic syndrome MedGen: C0751882 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
D,L-2-hydroxyglutaric aciduria MedGen: C5574940 OMIM: 615182 GeneReviews: Not available	Compare labs
Myasthenic syndrome, congenital, 23, presynaptic MedGen: C4748678 OMIM: 618197 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31622 (e-PCR)
- UniSTS:71533

D22S1621 (e-PCR)
- UniSTS:473987

D22S1571 (e-PCR)
- UniSTS:473831

G19115 (e-PCR)
- UniSTS:46322

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables citrate secondary active transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables citrate secondary active transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables citrate transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables tricarboxylic acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables tricarboxylic acid transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in gluconeogenesis	TAS Traceable Author Statement more info
involved_in mitochondrial citrate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial citrate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: tricarboxylate transport protein, mitochondrial

Names: citrate isocitrate carrier; citrate transport protein; mitochondrial citrate carrier; solute carrier family 20 (mitochondrial citrate transporter), member 3; solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1; tricarboxylate carrier protein

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.

Genomic

NG_033863.1 RefSeqGene

Range

5128..8283

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256534.2 → NP_001243463.1 tricarboxylate transport protein, mitochondrial isoform b

See identical proteins and their annotated locations for NP_001243463.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (b, also known as pmCiC) has a distinct and longer N-terminus, compared to isoform a. This isoform is supported by data in PMID:20448665.

Source sequence(s)

BC018590, BG473148, BP265446, HM037273

UniProtKB/TrEMBL

D9HTE9, Q6LAP8

Conserved Domains (2) summary

PTZ00169
Location:38 → 311

PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

pfam00153
Location:223 → 313

Mito_carr; Mitochondrial carrier protein
NM_001287387.2 → NP_001274316.1 tricarboxylate transport protein, mitochondrial isoform c

See identical proteins and their annotated locations for NP_001274316.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This encodes isoform c, which has a shorter N-terminus compared to isoform a.

Source sequence(s)

BC018590, BP265446

Consensus CDS

CCDS74817.1

UniProtKB/TrEMBL

D3DX16

Related

ENSP00000401480.1, ENST00000451283.5

Conserved Domains (1) summary

pfam00153
Location:113 → 203

Mito_carr; Mitochondrial carrier protein
NM_005984.5 → NP_005975.1 tricarboxylate transport protein, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_005975.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shorter isoform (a, also known as mCiC).

Source sequence(s)

BC018590, HY040162

Consensus CDS

CCDS13758.1

UniProtKB/Swiss-Prot

A8K8E8, P53007, Q9BSK6

UniProtKB/TrEMBL

Q6LAP8

Related

ENSP00000215882.5, ENST00000215882.10

Conserved Domains (2) summary

PTZ00169
Location:30 → 304

PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

pfam00153
Location:24 → 114

Mito_carr; Mitochondrial carrier protein

RNA

NR_046298.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AW161974, BC018590, BI159897