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SLC25A40 solute carrier family 25 member 40 [ Homo sapiens (human) ]

Gene ID: 55972, updated on 19-Sep-2024

Summary

Official Symbol
SLC25A40provided by HGNC
Official Full Name
solute carrier family 25 member 40provided by HGNC
Primary source
HGNC:HGNC:29680
See related
Ensembl:ENSG00000075303 MIM:610821; AllianceGenome:HGNC:29680
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCFP
Summary
SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in lymph node (RPKM 7.5), appendix (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

See SLC25A40 in Genome Data Viewer
Location:
7q21.12
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (87833568..87876360, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (89083493..89126273, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87462883..87505675, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 1 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 13989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18351 Neighboring gene RUN domain containing 3B Neighboring gene ReSE screen-validated silencer GRCh37_chr7:87363145-87363320 Neighboring gene NANOG hESC enhancer GRCh37_chr7:87368534-87369080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:87377258-87377846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:87376668-87377257 Neighboring gene NANOG hESC enhancer GRCh37_chr7:87448246-87448747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:87505271-87505780 Neighboring gene origin of replication in promoter of DBF4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26234 Neighboring gene uncharacterized LOC124901690 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:87556085-87556653 Neighboring gene DBF4-CDC7 kinase regulatory subunit

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glutathione transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in erythrocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in glutathione transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitochondrial transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
mitochondrial glutathione transporter SLC25A40
Names
mitochondrial carrier family protein
probable mitochondrial glutathione transporter SLC25A40

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.

mRNA and Protein(s)

  1. NM_018843.4NP_061331.2  mitochondrial glutathione transporter SLC25A40

    See identical proteins and their annotated locations for NP_061331.2

    Status: VALIDATED

    Source sequence(s)
    AC003083, AI037919, BX362003
    Consensus CDS
    CCDS5610.1
    UniProtKB/Swiss-Prot
    A8K483, D6W5P6, Q53GB1, Q8TBP6, Q9UHR1
    Related
    ENSP00000344831.5, ENST00000341119.10
    Conserved Domains (1) summary
    pfam00153
    Location:12136
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    87833568..87876360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    89083493..89126273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)