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    SFXN3 sideroflexin 3 [ Homo sapiens (human) ]

    Gene ID: 81855, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SFXN3provided by HGNC
    Official Full Name
    sideroflexin 3provided by HGNC
    Primary source
    HGNC:HGNC:16087
    See related
    Ensembl:ENSG00000107819 MIM:615571; AllianceGenome:HGNC:16087
    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
    SFX3; SLC56A3; BA108L7.2
    Summary
    Enables serine transmembrane transporter activity. Involved in serine import into mitochondrion. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in small intestine (RPKM 25.7), duodenum (RPKM 19.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q24.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (101031234..101041241)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101914634..101924642)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102790991..102800998)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102755784-102756653 Neighboring gene twinkle mtDNA helicase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2714 Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102768034-102768715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102768716-102769396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3905 Neighboring gene PDZ domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102810093-102810594 Neighboring gene uncharacterized LOC107984262 Neighboring gene Sharpr-MPRA regulatory region 11881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102821610-102822498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2718 Neighboring gene Kazal type serine peptidase inhibitor domain 1

    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. Non-coding RNA-mediated high expression of SFXN3 as a prognostic biomarker associated with paclitaxel resistance and immunosuppressive microenvironment in head and neck cancer. Chen K, et al. Front Immunol, 2022. PMID 36159813, Free PMC Article
    2. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Kory N, et al. Science, 2018 Nov 16. PMID 30442778, Free PMC Article
    3. Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies. Haidar M, et al. Autophagy, 2019 Jun. PMID 30669930, Free PMC Article
    4. The deubiquitylating enzyme UCHL3 regulates Ku80 retention at sites of DNA damage. Nishi R, et al. Sci Rep, 2018 Dec 17. PMID 30559450, Free PMC Article
    5. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. Scifo E, et al. J Proteome Res, 2013 May 3. PMID 23464991

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SFXN3 is Associated with Poor Clinical Outcomes and Sensitivity to the Hypomethylating Therapy in Non-M3 Acute Myeloid Leukemia Patients.
      Title: SFXN3 is Associated with Poor Clinical Outcomes and Sensitivity to the Hypomethylating Therapy in Non-M3 Acute Myeloid Leukemia Patients.
    2. Non-coding RNA-mediated high expression of SFXN3 as a prognostic biomarker associated with paclitaxel resistance and immunosuppressive microenvironment in head and neck cancer.
      Title: Non-coding RNA-mediated high expression of SFXN3 as a prognostic biomarker associated with paclitaxel resistance and immunosuppressive microenvironment in head and neck cancer.
    3. 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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    Replication interactions

    Interaction Pubs
    Knockdown of sideroflexin 3 (SFXN3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    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 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-serine transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sideroflexin-3

    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_001388027.1 → NP_001374956.1  sideroflexin-3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TP06, B4DRS6
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 329
      Mtc; Tricarboxylate carrier

    2. NM_001388028.1 → NP_001374957.1  sideroflexin-3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TP06, B4DRS6
      Related
      ENSP00000513933.1, ENST00000698791.1
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 329
      Mtc; Tricarboxylate carrier

    3. NM_001388029.1 → NP_001374958.1  sideroflexin-3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TP06
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 325
      Mtc; Tricarboxylate carrier

    4. NM_001388030.1 → NP_001374959.1  sideroflexin-3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TP06
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 325
      Mtc; Tricarboxylate carrier

    5. NM_001388031.1 → NP_001374960.1  sideroflexin-3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TP06
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 325
      Mtc; Tricarboxylate carrier

    6. NM_001388032.1 → NP_001374961.1  sideroflexin-3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TP06
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 308
      Mtc; Tricarboxylate carrier

    7. NM_001388033.1 → NP_001374962.1  sideroflexin-3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL133215
      UniProtKB/TrEMBL
      A0A8V8TM72
      Conserved Domains (1) summary
      pfam03820
      Location:13 → 285
      Mtc; Tricarboxylate carrier

    8. NM_001388034.1 → NP_001374963.1  sideroflexin-3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL133215
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 230
      Mtc; Tricarboxylate carrier

    9. NM_001388035.1 → NP_001374964.1  sideroflexin-3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL133215
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 230
      Mtc; Tricarboxylate carrier

    10. NM_030971.6 → NP_112233.3  sideroflexin-3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL133215
      Consensus CDS
      CCDS7508.3
      UniProtKB/Swiss-Prot
      Q8NCJ0, Q9BWM7, Q9NTP4
      UniProtKB/TrEMBL
      A0A8V8TP06
      Related
      ENSP00000377103.1, ENST00000393459.6
      Conserved Domains (1) summary
      pfam03820
      Location:9 → 321
      Mtc; Tricarboxylate carrier

    RNA

    1. NR_157572.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    2. NR_170874.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    3. NR_170875.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    4. NR_170876.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    5. NR_170877.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    6. NR_170878.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    7. NR_170879.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    8. NR_170880.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL133215

    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
      101031234..101041241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425806.1 → XP_047281762.1  sideroflexin-3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101914634..101924642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366859.1 → XP_054222834.1  sideroflexin-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BWM7.3 GenPept UniProtKB/Swiss-Prot:Q9BWM7

    Gene LinkOut

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

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