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SLC25A53 solute carrier family 25 member 53 [ Homo sapiens (human) ]

Gene ID: 401612, updated on 5-Mar-2024

Summary

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Official Symbol
SLC25A53provided by HGNC
Official Full Name
solute carrier family 25 member 53provided by HGNC
Primary source
HGNC:HGNC:31894
See related
Ensembl:ENSG00000269743 MIM:300941; AllianceGenome:HGNC:31894
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
MCART6
Summary
Predicted to be located in mitochondrial inner membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
Xq22.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104099214..104157009, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102530406..102588209, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103343898..103401690, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene thymosin beta 15C Neighboring gene DPPA3 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103349345-103349844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20923 Neighboring gene zinc finger CCHC-type containing 18 Neighboring gene uncharacterized LOC286437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29826 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:103410976-103411476 Neighboring gene family with sequence similarity 199, X-linked Neighboring gene ReSE screen-validated silencer GRCh37_chrX:103481389-103481600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103498244-103499059 Neighboring gene ESX homeobox 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
  2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) 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

  • DKFZp686O1267

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in NAD transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
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
  

General protein information

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Preferred Names
solute carrier family 25 member 53
Names
mitochondrial carrier triple repeat protein 6

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_001012755.5 → NP_001012773.2  solute carrier family 25 member 53

    See identical proteins and their annotated locations for NP_001012773.2

    Status: VALIDATED

    Source sequence(s)
    AC234783, AL833609, BC140814
    Consensus CDS
    CCDS35363.1
    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4
    Related
    ENSP00000468980.1, ENST00000594199.3
    Conserved Domains (1) summary
    cl28162
    Location:110 → 203
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    104099214..104157009 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262129.6 → XP_005262186.1  solute carrier family 25 member 53 isoform X1

    See identical proteins and their annotated locations for XP_005262186.1

    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4
    Conserved Domains (1) summary
    cl28162
    Location:110 → 203
    Mito_carr; Mitochondrial carrier protein

  2. XM_011530953.4 → XP_011529255.1  solute carrier family 25 member 53 isoform X1

    See identical proteins and their annotated locations for XP_011529255.1

    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4
    Conserved Domains (1) summary
    cl28162
    Location:110 → 203
    Mito_carr; Mitochondrial carrier protein

  3. XM_011530952.4 → XP_011529254.1  solute carrier family 25 member 53 isoform X1

    See identical proteins and their annotated locations for XP_011529254.1

    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4
    Conserved Domains (1) summary
    cl28162
    Location:110 → 203
    Mito_carr; Mitochondrial carrier protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    102530406..102588209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327051.1 → XP_054183026.1  solute carrier family 25 member 53 isoform X1

    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4

  2. XM_054327052.1 → XP_054183027.1  solute carrier family 25 member 53 isoform X1

    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4

  3. XM_054327050.1 → XP_054183025.1  solute carrier family 25 member 53 isoform X1

    UniProtKB/Swiss-Prot
    B2RTT9, Q5H9E4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5H9E4.1 GenPept UniProtKB/Swiss-Prot:Q5H9E4

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