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SFXN4 sideroflexin 4 [ Homo sapiens (human) ]

Gene ID: 119559, updated on 1-Jun-2020

Summary

Official Symbol
SFXN4provided by HGNC
Official Full Name
sideroflexin 4provided by HGNC
Primary source
HGNC:HGNC:16088
See related
Ensembl:ENSG00000183605 MIM:615564
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

Genomic context

See SFXN4 in Genome Data Viewer
Location:
10q26.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (119140767..119165728, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (120900425..120925221, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit A Neighboring gene Sharpr-MPRA regulatory region 2008 Neighboring gene DENN domain containing 10 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
amino acid transport IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
mitochondrial transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sideroflexin-4
Names
breast cancer resistance marker 1

NCBI Reference Sequences (RefSeq)

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_033895.1 RefSeqGene

    Range
    5001..29780
    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
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    119140767..119165728 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269525.5XP_005269582.1  sideroflexin-4 isoform X1

    Conserved Domains (1) summary
    pfam03820
    Location:37327
    Mtc; Tricarboxylate carrier
  2. XM_005269526.2XP_005269583.1  sideroflexin-4 isoform X2

    See identical proteins and their annotated locations for XP_005269583.1

    UniProtKB/Swiss-Prot
    Q6P4A7
    Related
    ENSP00000358127.4, ENST00000369131.8
    Conserved Domains (1) summary
    cl04275
    Location:2220
    Mtc; Tricarboxylate carrier
  3. XM_005269527.1XP_005269584.1  sideroflexin-4 isoform X2

    See identical proteins and their annotated locations for XP_005269584.1

    UniProtKB/Swiss-Prot
    Q6P4A7
    Conserved Domains (1) summary
    cl04275
    Location:2220
    Mtc; Tricarboxylate carrier
  4. XM_024447793.1XP_024303561.1  sideroflexin-4 isoform X2

    Conserved Domains (1) summary
    cl04275
    Location:2220
    Mtc; Tricarboxylate carrier
  5. XM_011539282.2XP_011537584.1  sideroflexin-4 isoform X2

    See identical proteins and their annotated locations for XP_011537584.1

    UniProtKB/Swiss-Prot
    Q6P4A7
    Conserved Domains (1) summary
    cl04275
    Location:2220
    Mtc; Tricarboxylate carrier

RNA

  1. XR_945603.3 RNA Sequence

  2. XR_001747022.1 RNA Sequence

  3. XR_001747023.1 RNA Sequence

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.
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