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SLC25A20 solute carrier family 25 member 20 [ Homo sapiens (human) ]

Gene ID: 788, updated on 13-Feb-2019

Summary

Official Symbol
SLC25A20provided by HGNC
Official Full Name
solute carrier family 25 member 20provided by HGNC
Primary source
HGNC:HGNC:1421
See related
Ensembl:ENSG00000178537 MIM:613698
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
CAC; CACT
Summary
This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 37.3), duodenum (RPKM 32.0) and 25 other tissues See more
Orthologs

Genomic context

See SLC25A20 in Genome Data Viewer
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (48856923..48898993, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48894356..48936426, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein kinase cAMP-dependent type II regulatory subunit alpha Neighboring gene PRKAR2A antisense RNA 1 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 opposite strand Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 Neighboring gene uncharacterized LOC105377079

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl carnitine transmembrane transporter activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
acyl carnitine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carnitine shuttle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial carnitine/acylcarnitine carrier protein
Names
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
NP_000378.1

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_008171.1 RefSeqGene

    Range
    4904..46974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000387.6NP_000378.1  mitochondrial carnitine/acylcarnitine carrier protein

    See identical proteins and their annotated locations for NP_000378.1

    Status: REVIEWED

    Source sequence(s)
    BC001689, BQ018220, DC360427
    Consensus CDS
    CCDS2779.1
    UniProtKB/Swiss-Prot
    O43772
    Related
    ENSP00000326305.4, ENST00000319017.4
    Conserved Domains (1) summary
    pfam00153
    Location:106198
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    48856923..48898993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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