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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
Title: Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
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.
A novel SLC25A32 homozygous variant is associated with severe neuromuscular phenotype.
Title: Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
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.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

STS-F13653 (e-PCR)
- UniSTS:12630

D11S2808 (e-PCR)
- UniSTS:152001

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	IGI Inferred from Genetic Interaction more info	PubMed
enables folic acid transmembrane transporter activity	NAS Non-traceable Author Statement more info	PubMed
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 folate import into mitochondrion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in folate import into mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in folic acid metabolic process	TAS Traceable Author Statement more info
involved_in folic acid transport	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial FAD transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 more info	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

NG_047200.1 RefSeqGene

Range

5229..21698

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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
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