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

    Gene ID: 81034, updated on 10-Dec-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
    mouse all
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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
    		Compare labs

    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

    Clone Names

    • FLJ23872

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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