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    SFXN4 sideroflexin 4 [ Homo sapiens (human) ]

    Gene ID: 119559, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SFXN4provided by HGNC
    Official Full Name
    sideroflexin 4provided by HGNC
    Primary source
    HGNC:HGNC:16088
    See related
    Ensembl:ENSG00000183605 MIM:615564; AllianceGenome:HGNC:16088
    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
    BCRM1; COXPD18; SLC56A4
    Summary
    This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.3), adrenal (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q26.11
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119140767..119165714, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120036176..120061128, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (120900279..120925226, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120826117-120826618 Neighboring gene eukaryotic translation initiation factor 3 subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2867 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120840059-120840821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120852323-120852823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120865335-120865834 Neighboring gene Sharpr-MPRA regulatory region 2644 Neighboring gene DENN domain containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:120901959-120902460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2869 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:120924677-120924863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:120937203-120937847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2870 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:120942385-120943130 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10037 Neighboring gene Sharpr-MPRA regulatory region 12134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2872 Neighboring gene peroxiredoxin 3 Neighboring gene GRK5 intronic transcript 1 Neighboring gene G protein-coupled receptor kinase 5

    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. Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module. Jackson TD, et al. Proc Natl Acad Sci U S A, 2022 Mar 29. PMID 35333655, Free PMC Article
    2. Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism, mitochondrial respiration and heme biosynthetic enzymes. Paul BT, et al. Sci Rep, 2019 Dec 23. PMID 31873120, Free PMC Article
    3. [Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency]. Sofou K, et al. Mitochondrion, 2019 Jul. PMID 31059822
    4. Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia. Zheng H, et al. DNA Seq, 2003 Oct. PMID 14756423
    5. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Hildick-Smith GJ, et al. Am J Hum Genet, 2013 Nov 7. PMID 24119684, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments.
      Title: Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments.
    2. Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.
      Title: Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.
    3. Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism, mitochondrial respiration and heme biosynthetic enzymes.
      Title: Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism, mitochondrial respiration and heme biosynthetic enzymes.
    4. Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.
      Title: [Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency].
    5. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia.
      Title: Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. we isolated a cDNA encoding a novel sideroflexin protein (SFXN4), which showed 59% identity and 71% similarity to mouse sideroflexin4.
      Title: Molecular cloning and characterization of a novel human putative transmembrane protein homologous to mouse sideroflexin associated with sideroblastic anemia.
    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
    Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
    MedGen: C3810001 OMIM: 615578 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)

    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 monoatomic ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    sideroflexin-4
    Names
    breast cancer resistance marker 1

    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_033895.2 RefSeqGene

      Range
      5000..29947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_213649.2 → NP_998814.1  sideroflexin-4

      See identical proteins and their annotated locations for NP_998814.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AL355598, AL355861
      Consensus CDS
      CCDS7610.1
      UniProtKB/Swiss-Prot
      Q6P4A7, Q6WSU4, Q86TD9
      Related
      ENSP00000347924.2, ENST00000355697.7
      Conserved Domains (1) summary
      pfam03820
      Location:37 → 336
      Mtc; Tricarboxylate carrier

    RNA

    1. NR_110305.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' region and has an additional exon in the 3' region, 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)
      AY269785, BC050475, BQ009818, BU959063

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      119140767..119165714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269525.6 → XP_005269582.1  sideroflexin-4 isoform X1

      Conserved Domains (1) summary
      pfam03820
      Location:37 → 327
      Mtc; Tricarboxylate carrier

    2. XM_005269526.3 → XP_005269583.1  sideroflexin-4 isoform X3

      See identical proteins and their annotated locations for XP_005269583.1

      UniProtKB/TrEMBL
      B1AMV7
      Related
      ENSP00000358127.4, ENST00000369131.8
      Conserved Domains (1) summary
      cl04275
      Location:2 → 220
      Mtc; Tricarboxylate carrier

    3. XM_011539282.3 → XP_011537584.1  sideroflexin-4 isoform X3

      See identical proteins and their annotated locations for XP_011537584.1

      UniProtKB/TrEMBL
      B1AMV7
      Conserved Domains (1) summary
      cl04275
      Location:2 → 220
      Mtc; Tricarboxylate carrier

    4. XM_047424585.1 → XP_047280541.1  sideroflexin-4 isoform X3

    5. XM_047424584.1 → XP_047280540.1  sideroflexin-4 isoform X2

      Related
      ENST00000461438.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      120036176..120061128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364758.1 → XP_054220733.1  sideroflexin-4 isoform X1

    2. XM_054364760.1 → XP_054220735.1  sideroflexin-4 isoform X3

    3. XM_054364759.1 → XP_054220734.1  sideroflexin-4 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178867.3: Suppressed sequence

      Description
      NM_178867.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P4A7.1 GenPept UniProtKB/Swiss-Prot:Q6P4A7

    Gene LinkOut

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

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