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SLC25A37 solute carrier family 25 member 37 [ Homo sapiens (human) ]

Gene ID: 51312, updated on 5-Mar-2024

Summary

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Official Symbol
SLC25A37provided by HGNC
Official Full Name
solute carrier family 25 member 37provided by HGNC
Primary source
HGNC:HGNC:29786
See related
Ensembl:ENSG00000147454 MIM:610387; AllianceGenome:HGNC:29786
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
MSC; MFRN; MSCP; HT015; MFRN1; PRO1278; PRO1584; PRO2217
Summary
SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]
Expression
Broad expression in bone marrow (RPKM 58.8), duodenum (RPKM 28.2) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
8p21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (23528956..23575463)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23803825..23850325)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23386469..23432976)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ENTPD4 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23339113-23340081 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 pseudogene Neighboring gene uncharacterized LOC105379327 Neighboring gene CRISPRi-validated cis-regulatory element chr8.847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27119 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23399784-23400565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23407857-23408358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19028 Neighboring gene RNA, U4 small nuclear 71, pseudogene Neighboring gene SINHCAF pseudogene 3

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. Identification of SLC25A37 as a major depressive disorder risk gene. Huo YX, et al. J Psychiatr Res, 2016 Dec. PMID 27643475
  2. Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS. Shi X, et al. Nat Commun, 2022 May 5. PMID 35513392, Free PMC Article
  3. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. Phillips J, et al. Mol Genet Metab, 2019 Nov. PMID 30391163, Free PMC Article
  4. Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron. Visconte V, et al. Leukemia, 2015 Jan. PMID 24854990
  5. Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling. Kaneko K, et al. FEBS J, 2009 Mar. PMID 19187226

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration.
    Title: Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration.
  2. MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma.
    Title: MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma.
  3. Our data show that there is a metabolic link between the activity ferrochelatase and levels of MFRN1 mRNA. We examined the correlation between ferrochelatase activity and MFRN1 mRNA in cell lines established from patients with the classical protoporphyria.
    Title: Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
  4. Studied iron metabolism in polycythemia vera and essential thrombocytosis using serum levels of hepcidin, GDF15, and mitoferrin-1.
    Title: The role of hepcidin, GDF15, and mitoferrin-1 in iron metabolism of polycythemia vera and essential thrombocytosis patients.
  5. The findings of this study implicate that the SCL25A37 is a major depressive disorder susceptibility gene whose expression may influence major depressive disorder risk.
    Title: Identification of SLC25A37 as a major depressive disorder risk gene.
  6. RNA-sequencing and Reverse transcriptase PCR showed higher expression of a specific isoform of SLC25A37 in SF3B1-mutant patients, a crucial importer of Fe(2+) into the mitochondria
    Title: Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron.
  7. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  8. Data show that abnormal MFRN1 expression can contribute to erythropoietic protoporphyria phenotype in some patients, probably by causing a reduction in FECH activity.
    Title: Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  10. hypoxia induces the expression of mitoferrin mRNAs through separate mechanisms in erythroid cells
    Title: Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling.
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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 ferrous iron transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in iron import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in iron import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of hemoglobin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
mitoferrin-1
Names
mitochondrial iron transporter 1
mitochondrial solute carrier protein
mitoferrin
predicted protein of HQ2217
solute carrier family 25 (mitochondrial iron transporter), member 37

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_001317812.2 → NP_001304741.1  mitoferrin-1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC051642
    UniProtKB/Swiss-Prot
    Q9NYZ2
    UniProtKB/TrEMBL
    Q71JB2
    Conserved Domains (1) summary
    pfam00153
    Location:1 → 73
    Mito_carr; Mitochondrial carrier protein

  2. NM_001317813.2 → NP_001304742.1  mitoferrin-1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream translation start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Both variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC051642
    UniProtKB/Swiss-Prot
    Q9NYZ2
    UniProtKB/TrEMBL
    Q71JB2
    Conserved Domains (1) summary
    pfam00153
    Location:70 → 152
    Mito_carr; Mitochondrial carrier protein

  3. NM_001317814.2 → NP_001304743.1  mitoferrin-1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream translation start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Both variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC051642
    UniProtKB/Swiss-Prot
    Q9NYZ2
    UniProtKB/TrEMBL
    Q71JB2
    Conserved Domains (1) summary
    pfam00153
    Location:70 → 152
    Mito_carr; Mitochondrial carrier protein

  4. NM_016612.4 → NP_057696.2  mitoferrin-1 isoform 1

    See identical proteins and their annotated locations for NP_057696.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC051642
    Consensus CDS
    CCDS47828.1
    UniProtKB/Swiss-Prot
    A2RU93, Q53FT7, Q69YJ8, Q969S1, Q9NYZ2, Q9P0J2
    Related
    ENSP00000429200.1, ENST00000519973.6
    Conserved Domains (1) summary
    pfam00153
    Location:44 → 136
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    23528956..23575463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544550.3 → XP_011542852.1  mitoferrin-1 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:76 → 158
    Mito_carr; Mitochondrial carrier protein

  2. XM_006716352.4 → XP_006716415.1  mitoferrin-1 isoform X2

    See identical proteins and their annotated locations for XP_006716415.1

    Conserved Domains (1) summary
    pfam00153
    Location:70 → 152
    Mito_carr; Mitochondrial carrier protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    23803825..23850325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360621.1 → XP_054216596.1  mitoferrin-1 isoform X1

  2. XM_054360622.1 → XP_054216597.1  mitoferrin-1 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018579.2: Suppressed sequence

    Description
    NM_018579.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

  2. NM_018586.1: Suppressed sequence

    Description
    NM_018586.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYZ2.2 GenPept UniProtKB/Swiss-Prot:Q9NYZ2

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