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

Gene ID: 6576, updated on 1-Aug-2020

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
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
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

Genomic context

See SLC25A1 in Genome Data Viewer
Location:
22q11.21
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19175575..19178863, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19163088..19166338, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene goosecoid homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1311 Neighboring gene clathrin heavy chain like 1 Neighboring gene uncharacterized LOC112268289 Neighboring gene ribosomal protein L34 pseudogene 35

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined d-2- and l-2-hydroxyglutaric aciduria
MedGen: C2746066 OMIM: 615182 GeneReviews: Not available
Compare labs
Congenital myasthenic syndrome Compare labs
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MedGen: C4748678 OMIM: 618197 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
mitochondrial citrate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 

General protein information

Preferred Names
tricarboxylate transport protein, mitochondrial
Names
citrate transport protein
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)

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

  1. NG_033863.1 RefSeqGene

    Range
    5128..8283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256534.2NP_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
    Conserved Domains (2) summary
    PTZ00169
    Location:38311
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:223313
    Mito_carr; Mitochondrial carrier protein
  2. NM_001287387.2NP_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
    B4DP62
    Related
    ENSP00000401480.1, ENST00000451283.5
    Conserved Domains (1) summary
    pfam00153
    Location:113203
    Mito_carr; Mitochondrial carrier protein
  3. NM_005984.5NP_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
    P53007
    Related
    ENSP00000215882.5, ENST00000215882.10
    Conserved Domains (2) summary
    PTZ00169
    Location:30304
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:24114
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_046298.2 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, BM679710, HY040162

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19175575..19178863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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