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

    Gene ID: 51312, updated on 2-May-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
    mouse all
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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.
    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

    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 iron ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

    Gene LinkOut

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

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