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SLC25A52 solute carrier family 25 member 52 [ Homo sapiens (human) ]

Gene ID: 147407, updated on 5-Mar-2024

Summary

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Official Symbol
SLC25A52provided by HGNC
Official Full Name
solute carrier family 25 member 52provided by HGNC
Primary source
HGNC:HGNC:23324
See related
Ensembl:ENSG00000141437 MIM:616153; AllianceGenome:HGNC:23324
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
MCART2
Summary
This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]
Orthologs
all
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Genomic context

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Location:
18q12.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31759584..31760880, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31950093..31951389, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29339547..29340843, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene beta-1,4-galactosyltransferase 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:29303886-29305085 Neighboring gene leucine rich repeat containing 37 member A7, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:29318221-29319420 Neighboring gene golgi SNAP receptor complex member 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13207 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29383595-29384386 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:29389007-29389784 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29389785-29390562 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29390563-29391340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:29399375-29399875 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29405731-29406276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29406277-29406822 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:29406823-29407368 Neighboring gene trafficking protein particle complex subunit 8 Neighboring gene MPRA-validated peak3103 silencer Neighboring gene family with sequence similarity 76 member A pseudogene Neighboring gene MPRA-validated peak3104 silencer Neighboring gene RNA, U6 small nuclear 1050, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. SLC25A51 is a mammalian mitochondrial NAD(+) transporter. Luongo TS, et al. Nature, 2020 Dec. PMID 32906142, Free PMC Article
  2. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
  3. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC120230, MGC120231, MGC120232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NAD transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial NAD transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial NAD transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52
Names
mitochondrial NAD(+) transporter SLC25A52
mitochondrial carrier triple repeat 2
mitochondrial carrier triple repeat protein 2

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)

  1. NM_001034172.4 → NP_001029344.4  mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52

    Status: VALIDATED

    Source sequence(s)
    AC022960, BC104001, DB057843
    Consensus CDS
    CCDS32812.3
    UniProtKB/Swiss-Prot
    Q3SY17
    UniProtKB/TrEMBL
    I3L0B8
    Related
    ENSP00000372612.4, ENST00000269205.7
    Conserved Domains (1) summary
    pfam00153
    Location:31 → 112
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    31759584..31760880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    31950093..31951389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3SY17.2 GenPept UniProtKB/Swiss-Prot:Q3SY17

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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