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    SFXN1 sideroflexin 1 [ Homo sapiens (human) ]

    Gene ID: 94081, updated on 3-Nov-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 L-alanine transmembrane transporter activity and L-serine transmembrane transporter activity. Involved in L-alanine transport; L-serine transport; and serine import into mitochondrion. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 20.2), kidney (RPKM 17.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SFXN1 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (175478560..175529742)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176022352..176073526)
    RS_2024_09 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 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-1 promotes progression and sensitivity to lapatinib in triple-negative breast cancer by inhibiting TOLLIP-mediated autophagic degradation of CIP2A. Andriani L, et al. Cancer Lett, 2024 Aug 10. PMID 38849012
    2. 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
    3. 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
    4. SFXN1-mediated immune cell infiltration and tumorigenesis in lung adenocarcinoma: A potential therapeutic target. Li Y, et al. Int Immunopharmacol, 2024 May 10. PMID 38537539
    5. Comprehensive analysis the prognostic and immune characteristics of mitochondrial transport-related gene SFXN1 in lung adenocarcinoma. Liu W, et al. BMC Cancer, 2024 Jan 17. PMID 38233752, Free PMC Article

    See all (150) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sideroflexin-1 promotes progression and sensitivity to lapatinib in triple-negative breast cancer by inhibiting TOLLIP-mediated autophagic degradation of CIP2A.
      Title: Sideroflexin-1 promotes progression and sensitivity to lapatinib in triple-negative breast cancer by inhibiting TOLLIP-mediated autophagic degradation of CIP2A.
    2. SFXN1-mediated immune cell infiltration and tumorigenesis in lung adenocarcinoma: A potential therapeutic target.
      Title: SFXN1-mediated immune cell infiltration and tumorigenesis in lung adenocarcinoma: A potential therapeutic target.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. CircSFXN1 regulates the behaviour of trophoblasts and likely mediates preeclampsia.
      Title: CircSFXN1 regulates the behaviour of trophoblasts and likely mediates preeclampsia.
    8. SFXN1 functions as a mitochondrial serine transporter in one-carbon metabolism.
      Title: SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism.
    9. 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 HTP 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_2024_08

    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

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

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