Aliases for SFXN3 Gene

Aliases for SFXN3 Gene

  • Sideroflexin 3 2 3 5
  • Sideroflexin-3 3 4
  • BA108L7.2 3
  • SLC56A3 3
  • SFX3 3

External Ids for SFXN3 Gene

Previous GeneCards Identifiers for SFXN3 Gene

  • GC00U991057
  • GC10P102781
  • GC10P096420

Summaries for SFXN3 Gene

GeneCards Summary for SFXN3 Gene

SFXN3 (Sideroflexin 3) is a Protein Coding gene. Among its related pathways are Validated targets of C-MYC transcriptional repression. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and ion transmembrane transporter activity. An important paralog of this gene is SFXN1.

UniProtKB/Swiss-Prot Summary for SFXN3 Gene

  • Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway (PubMed:30442778). Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors (PubMed:30442778).

Additional gene information for SFXN3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SFXN3 Gene

Genomics for SFXN3 Gene

GeneHancer (GH) Regulatory Elements for SFXN3 Gene

Promoters and enhancers for SFXN3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SFXN3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SFXN3

Top Transcription factor binding sites by QIAGEN in the SFXN3 gene promoter:
  • AREB6
  • Bach1
  • c-Rel
  • C/EBPalpha
  • CUTL1
  • GATA-1
  • MRF-2
  • PPAR-alpha
  • PPAR-gamma1
  • RFX1

Genomic Locations for SFXN3 Gene

Genomic Locations for SFXN3 Gene
chr10:101,031,229-101,041,244
(GRCh38/hg38)
Size:
10,016 bases
Orientation:
Plus strand
chr10:102,790,991-102,800,998
(GRCh37/hg19)
Size:
10,008 bases
Orientation:
Plus strand

Genomic View for SFXN3 Gene

Genes around SFXN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFXN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFXN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFXN3 Gene

Proteins for SFXN3 Gene

  • Protein details for SFXN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWM7-SFXN3_HUMAN
    Recommended name:
    Sideroflexin-3
    Protein Accession:
    Q9BWM7
    Secondary Accessions:
    • Q8NCJ0
    • Q9NTP4

    Protein attributes for SFXN3 Gene

    Size:
    321 amino acids
    Molecular mass:
    35503 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH00124.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11151.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for SFXN3 Gene

Post-translational modifications for SFXN3 Gene

  • Ubiquitination at Lys71 and Lys169
  • Modification sites at PhosphoSitePlus

Other Protein References for SFXN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SFXN3 Gene

Domains & Families for SFXN3 Gene

Gene Families for SFXN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SFXN3 Gene

Blocks:
  • Tricarboxylate/iron carrier
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SFXN3 Gene

GenScript: Design optimal peptide antigens:
  • Sideroflexin-3 (SFXN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BWM7

UniProtKB/Swiss-Prot:

SFXN3_HUMAN :
  • Belongs to the sideroflexin family.
Family:
  • Belongs to the sideroflexin family.
genes like me logo Genes that share domains with SFXN3: view

Function for SFXN3 Gene

Molecular function for SFXN3 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway (PubMed:30442778). Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors (PubMed:30442778).

Phenotypes From GWAS Catalog for SFXN3 Gene

Gene Ontology (GO) - Molecular Function for SFXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015075 ion transmembrane transporter activity IEA --
GO:0022889 serine transmembrane transporter activity IDA 30442778
genes like me logo Genes that share ontologies with SFXN3: view
genes like me logo Genes that share phenotypes with SFXN3: view

Animal Models for SFXN3 Gene

MGI Knock Outs for SFXN3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SFXN3

CRISPR Products

Clone Products

  • Addgene plasmids for SFXN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SFXN3 Gene

Localization for SFXN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFXN3 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SFXN3 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
extracellular 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SFXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 30442778
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with SFXN3: view

Pathways & Interactions for SFXN3 Gene

genes like me logo Genes that share pathways with SFXN3: view

Pathways by source for SFXN3 Gene

1 BioSystems pathway for SFXN3 Gene

Gene Ontology (GO) - Biological Process for SFXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IDA,IEA 30442778
GO:0006811 ion transport IEA --
GO:0006865 amino acid transport IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SFXN3: view

No data available for SIGNOR curated interactions for SFXN3 Gene

Drugs & Compounds for SFXN3 Gene

(1) Drugs for SFXN3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1496
genes like me logo Genes that share compounds with SFXN3: view

Transcripts for SFXN3 Gene

mRNA/cDNA for SFXN3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SFXN3

Alternative Splicing Database (ASD) splice patterns (SP) for SFXN3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - - - -
SP7: -
SP8: -
SP9:
SP10:

Relevant External Links for SFXN3 Gene

GeneLoc Exon Structure for
SFXN3

Expression for SFXN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SFXN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SFXN3 Gene

This gene is overexpressed in Nasal epithelium (15.6) and Bone (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SFXN3 Gene



Protein tissue co-expression partners for SFXN3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SFXN3

SOURCE GeneReport for Unigene cluster for SFXN3 Gene:

Hs.283844

Evidence on tissue expression from TISSUES for SFXN3 Gene

  • Nervous system(4.3)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with SFXN3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SFXN3 Gene

Orthologs for SFXN3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SFXN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFXN3 31 30
  • 99.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SFXN3 31 30
  • 91.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SFXN3 31 30
  • 90.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sfxn3 17 31 30
  • 88.47 (n)
rat
(Rattus norvegicus)
Mammalia Sfxn3 30
  • 87.64 (n)
oppossum
(Monodelphis domestica)
Mammalia SFXN3 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFXN3 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFXN3 31
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFXN3 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfxn3 30
  • 70.53 (n)
zebrafish
(Danio rerio)
Actinopterygii sfxn3 31 30
  • 70.62 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11739 31
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sfxn-1.4 31 30
  • 55.35 (n)
ManyToMany
sfxn-1.5 31
  • 52 (a)
ManyToMany
sfxn-1.1 31
  • 47 (a)
ManyToMany
sfxn-1.2 31
  • 46 (a)
ManyToMany
sfxn-1.3 31
  • 46 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FSF1 31
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10377 31
  • 60 (a)
OneToMany
Cin.4566 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4566 30
Species where no ortholog for SFXN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SFXN3 Gene

ENSEMBL:
Gene Tree for SFXN3 (if available)
TreeFam:
Gene Tree for SFXN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SFXN3: view image

Paralogs for SFXN3 Gene

Paralogs for SFXN3 Gene

(3) SIMAP similar genes for SFXN3 Gene using alignment to 2 proteins:

  • SFXN3_HUMAN
  • S4R3N9_HUMAN
genes like me logo Genes that share paralogs with SFXN3: view

Variants for SFXN3 Gene

Additional dbSNP identifiers (rs#s) for SFXN3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SFXN3 Gene

Variant ID Type Subtype PubMed ID
esv3624367 CNV loss 21293372
nsv476347 CNV novel sequence insertion 20440878
nsv7525 CNV insertion 18451855
nsv831965 CNV loss 17160897

Variation tolerance for SFXN3 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.27; 52.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SFXN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFXN3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SFXN3 Gene

Disorders for SFXN3 Gene

Additional Disease Information for SFXN3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SFXN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFXN3 Gene

Publications for SFXN3 Gene

  1. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. (PMID: 30442778) Kory N … Sabatini DM (Science (New York, N.Y.) 2018) 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  5. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 54

Products for SFXN3 Gene

Sources for SFXN3 Gene