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SLC25A32 solute carrier family 25 member 32 [ Homo sapiens (human) ]

Gene ID: 81034, updated on 26-Nov-2024

Summary

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Official Symbol
SLC25A32provided by HGNC
Official Full Name
solute carrier family 25 member 32provided by HGNC
Primary source
HGNC:HGNC:29683
See related
Ensembl:ENSG00000164933 MIM:138480; AllianceGenome:HGNC:29683
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
MFT; GLYB; MFTC; RREI
Summary
This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
Expression
Ubiquitous expression in appendix (RPKM 5.6), lymph node (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

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See SLC25A32 in Genome Data Viewer
Location:
8q22.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (103398638..103415107, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (104526288..104542756, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (104410866..104427335, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:104383426-104384220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:104384221-104385014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27790 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:104387700-104388269 Neighboring gene RNA, U6 small nuclear 1011, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:104427001-104427622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:104430836-104431727 Neighboring gene collagen triple helix repeat containing 1 Neighboring gene uncharacterized LOC105375690 Neighboring gene DDB1 and CUL4 associated factor 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19459 Neighboring gene Sharpr-MPRA regulatory region 6081 Neighboring gene regulating synaptic membrane exocytosis 2

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. SLC25A32 promotes malignant progression of glioblastoma by activating PI3K-AKT signaling pathway. Xue Z, et al. BMC Cancer, 2023 Jun 26. PMID 37365560, Free PMC Article
  2. Retrovirally mediated complementation of the glyB phenotype. Cloning of a human gene encoding the carrier for entry of folates into mitochondria. Titus SA, et al. J Biol Chem, 2000 Nov 24. PMID 10978331
  3. Tetrahydrofolate recognition by the mitochondrial folate transporter. Lawrence SA, et al. J Biol Chem, 2011 Sep 9. PMID 21768094, Free PMC Article
  4. Polymorphism of SLC25A32, the folate transporter gene, is associated with plasma folate levels and bone fractures in Japanese postmenopausal women. Urano T, et al. Geriatr Gerontol Int, 2014 Oct. PMID 24354357
  5. Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. Hellebrekers DMEI, et al. Eur J Hum Genet, 2017 Jun. PMID 28443623, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SLC25A32 promotes malignant progression of glioblastoma by activating PI3K-AKT signaling pathway.
    Title: SLC25A32 promotes malignant progression of glioblastoma by activating PI3K-AKT signaling pathway.
  2. Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
    Title: Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
  3. These data demonstrate that the loss of functional Slc25a32 results in cranial neural tube defects (NTDs) in mice and has also been observed in a human NTD patient.
    Title: Formate rescues neural tube defects caused by mutations in Slc25a32.
  4. A novel SLC25A32 homozygous variant is associated with severe neuromuscular phenotype.
    Title: Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
  5. SLC25A32 gene polymorphism could be a risk factor for lower folate concentration and future fracture.
    Title: Polymorphism of SLC25A32, the folate transporter gene, is associated with plasma folate levels and bone fractures in Japanese postmenopausal women.
  6. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  7. identified residues in the walls and at the base of the transport cavity that are involved in substrate recognition by the MFT
    Title: Tetrahydrofolate recognition by the mitochondrial folate transporter.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Patient with SLC25A32 deficiency was able to have a successful pregnancy after fertilization in vitro.
    Title: Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization.
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

Associated conditions

Description Tests
Exercise intolerance, riboflavin-responsive
MedGen: C4225187 OMIM: 616839 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FAD transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables FAD transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables folic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables folic acid transmembrane transporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in folate import into mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in folic acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in mitochondrial FAD transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IGI
Inferred from Genetic Interaction
more info
 PubMed 
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
solute carrier family 25 member 32
Names
Glycine auxotroph B, complementation of hamster
glycine B complementing
mitochondrial FAD transporter
mitochondrial folate transporter/carrier
solute carrier family 25 (mitochondrial folate carrier), member 32

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_047200.1 RefSeqGene

    Range
    5229..21698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030780.5 → NP_110407.2  solute carrier family 25 member 32

    See identical proteins and their annotated locations for NP_110407.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AF283645, BC021893, DB087013
    Consensus CDS
    CCDS6300.1
    UniProtKB/Swiss-Prot
    A0A024R9D0, Q96JZ6, Q96SU7, Q9H2D1
    UniProtKB/TrEMBL
    B3KWP3
    Related
    ENSP00000297578.4, ENST00000297578.9
    Conserved Domains (1) summary
    cl28162
    Location:26 → 307
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_102337.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF283645, BC021893, DB087013, DC331449
    Related
    ENST00000523256.6

  2. NR_102338.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF283645, AL046268, BC021893, DB087013
    Related
    ENST00000521645.5

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    103398638..103415107 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    104526288..104542756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2D1.2 GenPept UniProtKB/Swiss-Prot:Q9H2D1

Gene LinkOut

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