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SFXN1 sideroflexin 1 [ Homo sapiens (human) ]

Gene ID: 94081, updated on 11-Apr-2024

Summary

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Official Symbol
SFXN1provided by HGNC
Official Full Name
sideroflexin 1provided by HGNC
Primary source
HGNC:HGNC:16085
See related
Ensembl:ENSG00000164466 MIM:615569; AllianceGenome:HGNC:16085
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
TCC; SLC56A1
Summary
Enables D-serine transmembrane transporter activity and L-serine transmembrane transporter activity. Involved in D-serine transport; L-serine transport; and serine import into mitochondrion. Located in mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver (RPKM 20.2), kidney (RPKM 17.3) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
5q35.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (175478560..175529742)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176022352..176073526)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (174905563..174956745)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16643 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23676 Neighboring gene dopamine receptor D1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16644 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr5:174905945-174906540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:174911541-174912114 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:174943953-174945152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:174960972-174961510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:174967065-174967566 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:174974284-174975206 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:174988020-174988638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175023214-175023754 Neighboring gene Sharpr-MPRA regulatory region 8396 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175044235-175044430 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175065813-175066006 Neighboring gene RN7SK pseudogene 148 Neighboring gene NANOG hESC enhancer GRCh37_chr5:175076996-175077520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175090952-175091530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175113560-175114280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175114281-175115000 Neighboring gene histamine receptor H2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175115001-175115720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175115721-175116440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175117667-175118168 Neighboring gene uncharacterized LOC105377743 Neighboring gene Sharpr-MPRA regulatory region 12912

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. Loss of SFXN1 mitigates lipotoxicity and predicts poor outcome in non-viral hepatocellular carcinoma. Yagi K, et al. Sci Rep, 2023 Jun 9. PMID 37296228, Free PMC Article
  2. Overexpression of SFXN1 indicates poor prognosis and promotes tumor progression in lung adenocarcinoma. Chen L, et al. Pathol Res Pract, 2022 Sep. PMID 35878532
  3. The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism. Acoba MG, et al. Cell Rep, 2021 Mar 16. PMID 33730581, Free PMC Article
  4. Differential effects of coconut oil- and fish oil-enriched diets on tricarboxylate carrier in rat liver mitochondria. Giudetti AM, et al. J Lipid Res, 2003 Nov. PMID 14634051
  5. Covariance of tricarboxylate carrier activity and lipogenesis in liver of polyunsaturated fatty acid (n-6) fed rats. Zara V, et al. Eur J Biochem, 2001 Nov. PMID 11722557

See all (126) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Comprehensive analysis the prognostic and immune characteristics of mitochondrial transport-related gene SFXN1 in lung adenocarcinoma.
    Title: Comprehensive analysis the prognostic and immune characteristics of mitochondrial transport-related gene SFXN1 in lung adenocarcinoma.
  2. Loss of SFXN1 mitigates lipotoxicity and predicts poor outcome in non-viral hepatocellular carcinoma.
    Title: Loss of SFXN1 mitigates lipotoxicity and predicts poor outcome in non-viral hepatocellular carcinoma.
  3. Overexpression of SFXN1 indicates poor prognosis and promotes tumor progression in lung adenocarcinoma.
    Title: Overexpression of SFXN1 indicates poor prognosis and promotes tumor progression in lung adenocarcinoma.
  4. The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism.
    Title: The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism.
  5. CircSFXN1 regulates the behaviour of trophoblasts and likely mediates preeclampsia.
    Title: CircSFXN1 regulates the behaviour of trophoblasts and likely mediates preeclampsia.
  6. SFXN1 functions as a mitochondrial serine transporter in one-carbon metabolism.
    Title: SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify sideroflexin 1 (SFXN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify sideroflexin 1 (SFXN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify sideroflexin 1 (SFXN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify sideroflexin 1 (SFXN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12876

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-alanine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-serine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables monoatomic ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in L-alanine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-serine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in iron ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of one-carbon metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in serine import into mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in serine import into mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
sideroflexin-1
Names
tricarboxylate carrier protein

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_001322977.2 → NP_001309906.1  sideroflexin-1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC091393
    Consensus CDS
    CCDS4394.1
    UniProtKB/Swiss-Prot
    B3KPW3, D3DQN2, Q9H9B4, Q9HA53
    Conserved Domains (1) summary
    pfam03820
    Location:10 → 322
    Mtc; Tricarboxylate carrier

  2. NM_001322978.2 → NP_001309907.1  sideroflexin-1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC091393
    Conserved Domains (1) summary
    pfam03820
    Location:2 → 261
    Mtc; Tricarboxylate carrier

  3. NM_001322980.2 → NP_001309909.1  sideroflexin-1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC091393

  4. NM_001322981.2 → NP_001309910.1  sideroflexin-1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC091393

  5. NM_001322982.2 → NP_001309911.1  sideroflexin-1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC091393
    Conserved Domains (1) summary
    pfam03820
    Location:2 → 261
    Mtc; Tricarboxylate carrier

  6. NM_001322983.2 → NP_001309912.1  sideroflexin-1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC091393
    Conserved Domains (1) summary
    pfam03820
    Location:10 → 241
    Mtc; Tricarboxylate carrier

  7. NM_022754.7 → NP_073591.2  sideroflexin-1 isoform 1

    See identical proteins and their annotated locations for NP_073591.2

    Status: VALIDATED

    Source sequence(s)
    AC091393, AK022938, BC063241, BP199230, BU689165, CN480623
    Consensus CDS
    CCDS4394.1
    UniProtKB/Swiss-Prot
    B3KPW3, D3DQN2, Q9H9B4, Q9HA53
    Related
    ENSP00000316905.5, ENST00000321442.10
    Conserved Domains (1) summary
    pfam03820
    Location:10 → 322
    Mtc; Tricarboxylate carrier

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    175478560..175529742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    176022352..176073526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H9B4.4 GenPept UniProtKB/Swiss-Prot:Q9H9B4

Gene LinkOut

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