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

Gene ID: 283600, updated on 18-Aug-2020

Summary

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
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
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

Genomic context

See SLC25A47 in Genome Data Viewer
Location:
14q32.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (100323339..100330421)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100789679..100796715)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene microRNA 345 Neighboring gene RNA, 7SL, cytoplasmic 523, pseudogene Neighboring gene tryptophanyl-tRNA synthetase 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 4 Neighboring gene WD repeat domain 25 Neighboring gene Sharpr-MPRA regulatory region 10653

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
acyl carnitine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
acyl carnitine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acyl carnitine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001350877.2NP_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
    Related
    ENSP00000451078.1, ENST00000557052.1
    Conserved Domains (2) summary
    pfam00153
    Location:75156
    Mito_carr; Mitochondrial carrier protein
    cl28162
    Location:661
    Mito_carr; Mitochondrial carrier protein
  2. NM_207117.4NP_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
    Q6Q0C1
    UniProtKB/TrEMBL
    A0A024R6H7
    Related
    ENSP00000354886.3, ENST00000361529.5
    Conserved Domains (1) summary
    pfam00153
    Location:221302
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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