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

    Gene ID: 401612, updated on 10-Dec-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 enable NAD transmembrane transporter activity. Predicted to be involved in NAD transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A53 in Genome Data Viewer
    Location:
    Xq22.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104099214..104157009, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102530406..102588209, complement)
    RS_2024_09 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. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    4. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) 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)

    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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

    Gene LinkOut

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

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