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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
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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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