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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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See SLC25A47 in Genome Data Viewer
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

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