Format

Send to:

Choose Destination

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

Gene ID: 788, updated on 12-May-2016
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 HPRD:01953; MIM:613698; Vega:OTTHUMG00000133538
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]
Orthologs
Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 homolog 2 opposite strand Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 Neighboring gene uncharacterized LOC105377080

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl carnitine transmembrane transporter activity EXP
Inferred from Experiment
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
acyl carnitine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carnitine shuttle TAS
Traceable Author Statement
more info
 
translation IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm 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 IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mitochondrial carnitine/acylcarnitine carrier protein
Names
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20

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_000387.5NP_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, OTTHUMP00000164819, ENST00000319017, OTTHUMT00000257516
    Conserved Domains (2) summary
    PTZ00169
    Location:11277
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:106198
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006713327.1XP_006713390.1  

    Conserved Domains (1) summary
    pfam00153
    Location:6103
    Mito_carr; Mitochondrial carrier protein

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    48846459..48888551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)