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    SFXN4 sideroflexin 4 [ Homo sapiens (human) ]

    Gene ID: 119559, updated on 2-May-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    sideroflexin-4
    Names
    breast cancer resistance marker 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_213649.2NP_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:37336
      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_005269525.6XP_005269582.1  sideroflexin-4 isoform X1

      Conserved Domains (1) summary
      pfam03820
      Location:37327
      Mtc; Tricarboxylate carrier
    2. XM_005269526.3XP_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:2220
      Mtc; Tricarboxylate carrier
    3. XM_011539282.3XP_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:2220
      Mtc; Tricarboxylate carrier
    4. XM_047424585.1XP_047280541.1  sideroflexin-4 isoform X3

    5. XM_047424584.1XP_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_054364758.1XP_054220733.1  sideroflexin-4 isoform X1

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

    3. XM_054364759.1XP_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.