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    SLC25A47 solute carrier family 25 member 47 [ Homo sapiens (human) ]

    Gene ID: 283600, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLC25A47provided by HGNC
    Official Full Name
    solute carrier family 25 member 47provided by HGNC
    Primary source
    HGNC:HGNC:20115
    See related
    Ensembl:ENSG00000140107 MIM:609911; AllianceGenome:HGNC:20115
    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
    HDCMP; HDMCP; C14orf68; HMFN1655
    Summary
    This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
    Expression
    Restricted expression toward liver (RPKM 73.4) See more
    Orthologs
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    Genomic context

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    Location:
    14q32.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100323339..100330421)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94556363..94563446)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100789676..100796758)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100779917-100780815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100784285-100784831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9037 Neighboring gene microRNA 345 Neighboring gene RNA, 7SL, cytoplasmic 523, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9038 Neighboring gene tryptophanyl-tRNA synthetase 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100837597-100838513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6091 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100848141-100849101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100849328-100849837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100860083-100860587 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:100863901-100865100 Neighboring gene WD repeat domain 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100870227-100870728 Neighboring gene uncharacterized LOC105370664

    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. HDMCP uncouples yeast mitochondrial respiration and alleviates steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels: a novel mechanism for NAFLD. Jin X, et al. J Hepatol, 2009 May. PMID 19303656
    2. Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein. Tan MG, et al. J Biol Chem, 2004 Oct 22. PMID 15322095
    3. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. Yamada S, et al. Oncogene, 2004 Aug 5. PMID 15221005
    4. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatic mitochondrial NAD + transporter SLC25A47 activates AMPKalpha mediating lipid metabolism and tumorigenesis.
      Title: Hepatic mitochondrial NAD + transporter SLC25A47 activates AMPKα mediating lipid metabolism and tumorigenesis.
    2. The human glucose and lipid homeostasis-associated genetic polymorphisms do not regulate SLC25A47 gene expression in the liver.
      Title: The human glucose and lipid homeostasis-associated genetic polymorphisms do not regulate SLC25A47 gene expression in the liver.
    3. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. HDMCP might function through promoting ATP depletion and decreasing H(2)O(2) production.
      Title: HDMCP uncouples yeast mitochondrial respiration and alleviates steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels: a novel mechanism for NAFLD.
    6. hepatocellular carcinoma down-regulated mitochondrial carrier protein is a novel liver-specific uncoupling protein
      Title: Cloning and identification of hepatocellular carcinoma down-regulated mitochondrial carrier protein, a novel liver-specific uncoupling protein.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables acetyl-CoA transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 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
    		  
    involved_in acetyl-CoA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    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 47
    Names
    HCC-down-regulated mitochondrial carrier protein
    hepatocellular carcinoma down-regulated mitochondrial carrier protein
    hepatocellular carcinoma-downregulated mitochondrial carrier protein
    mitochondrial NAD(+) transporter SLC25A47

    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

    1. NG_054632.1 RefSeqGene

      Range
      4998..12080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350877.2 → NP_001337806.1  solute carrier family 25 member 47 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL157871, AY569438, BC144549, DA036173, HY289447
      Consensus CDS
      CCDS86432.1
      UniProtKB/TrEMBL
      G3V374
      Related
      ENSP00000451078.1, ENST00000557052.1
      Conserved Domains (1) summary
      pfam00153
      Location:75 → 156
      Mito_carr; Mitochondrial carrier protein

    2. NM_207117.4 → NP_997000.2  solute carrier family 25 member 47 isoform 1

      See identical proteins and their annotated locations for NP_997000.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY569438, DA036173, HY289447
      Consensus CDS
      CCDS9959.1
      UniProtKB/Swiss-Prot
      B2RP39, Q68CL2, Q6PZD8, Q6Q0C1, Q86U14
      Related
      ENSP00000354886.3, ENST00000361529.5
      Conserved Domains (1) summary
      pfam00153
      Location:221 → 302
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      100323339..100330421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      94556363..94563446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6Q0C1.1 GenPept UniProtKB/Swiss-Prot:Q6Q0C1

    Gene LinkOut

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

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