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Aliases for SFXN1 Gene

Aliases for SFXN1 Gene

  • Sideroflexin 1 2 3 5
  • Tricarboxylate Carrier Protein 3 4
  • TCC 3 4

External Ids for SFXN1 Gene

Previous GeneCards Identifiers for SFXN1 Gene

  • GC05U990169
  • GC05P175644
  • GC05P174840
  • GC05P174886
  • GC05P174838
  • GC05P170004

Summaries for SFXN1 Gene

GeneCards Summary for SFXN1 Gene

SFXN1 (Sideroflexin 1) is a Protein Coding gene. GO annotations related to this gene include cation transmembrane transporter activity and ion transmembrane transporter activity. An important paralog of this gene is SFXN3.

UniProtKB/Swiss-Prot for SFXN1 Gene

  • Might be involved in the transport of a component required for iron utilization into or out of the mitochondria.

Gene Wiki entry for SFXN1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFXN1 Gene

Genomics for SFXN1 Gene

Regulatory Elements for SFXN1 Gene

Genomic Location for SFXN1 Gene

Chromosome:
5
Start:
175,477,062 bp from pter
End:
175,529,742 bp from pter
Size:
52,681 bases
Orientation:
Plus strand

Genomic View for SFXN1 Gene

Genes around SFXN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFXN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFXN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFXN1 Gene

Proteins for SFXN1 Gene

  • Protein details for SFXN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9B4-SFXN1_HUMAN
    Recommended name:
    Sideroflexin-1
    Protein Accession:
    Q9H9B4
    Secondary Accessions:
    • B3KPW3
    • D3DQN2
    • Q9HA53

    Protein attributes for SFXN1 Gene

    Size:
    322 amino acids
    Molecular mass:
    35619 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH20517.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14003.1; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB14318.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SFXN1 Gene

Proteomics data for SFXN1 Gene at MOPED

Post-translational modifications for SFXN1 Gene

  • Ubiquitination at Lys 72 and Lys 170
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SFXN1 Gene

Domains & Families for SFXN1 Gene

Gene Families for SFXN1 Gene

Protein Domains for SFXN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SFXN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H9B4

UniProtKB/Swiss-Prot:

SFXN1_HUMAN :
  • Belongs to the sideroflexin family.
Family:
  • Belongs to the sideroflexin family.
genes like me logo Genes that share domains with SFXN1: view

Function for SFXN1 Gene

Molecular function for SFXN1 Gene

UniProtKB/Swiss-Prot Function:
Might be involved in the transport of a component required for iron utilization into or out of the mitochondria.
genes like me logo Genes that share phenotypes with SFXN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SFXN1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFXN1 Gene

Localization for SFXN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFXN1 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SFXN1 Gene COMPARTMENTS Subcellular localization image for SFXN1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2
golgi apparatus 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for SFXN1 Gene

Pathways & Interactions for SFXN1 Gene

SuperPathways for SFXN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SFXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030218 erythrocyte differentiation IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SFXN1: view

No data available for Pathways by source and SIGNOR curated interactions for SFXN1 Gene

Drugs & Compounds for SFXN1 Gene

(1) Additional Compounds for SFXN1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with SFXN1: view

Transcripts for SFXN1 Gene

Unigene Clusters for SFXN1 Gene

Sideroflexin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SFXN1 Gene

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

Relevant External Links for SFXN1 Gene

GeneLoc Exon Structure for
SFXN1
ECgene alternative splicing isoforms for
SFXN1

Expression for SFXN1 Gene

mRNA expression in normal human tissues for SFXN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SFXN1 Gene

This gene is overexpressed in Nasal epithelium (22.0) and Bone (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SFXN1 Gene



SOURCE GeneReport for Unigene cluster for SFXN1 Gene Hs.369440

genes like me logo Genes that share expression patterns with SFXN1: view

Protein tissue co-expression partners for SFXN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SFXN1 Gene

Orthologs for SFXN1 Gene

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

Orthologs for SFXN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SFXN1 35
  • 89.86 (n)
  • 96.58 (a)
SFXN1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SFXN1 35
  • 91.93 (n)
  • 97.83 (a)
SFXN1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sfxn1 35
  • 84.58 (n)
  • 94.72 (a)
Sfxn1 16
Sfxn1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SFXN1 35
  • 99.69 (n)
  • 99.69 (a)
SFXN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfxn1 35
  • 85.09 (n)
  • 95.65 (a)
oppossum
(Monodelphis domestica)
Mammalia SFXN1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFXN1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SFXN1 35
  • 81.37 (n)
  • 90.99 (a)
SFXN1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFXN1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfxn1 35
  • 78.99 (n)
  • 90.68 (a)
African clawed frog
(Xenopus laevis)
Amphibia xm278-prov 35
zebrafish
(Danio rerio)
Actinopterygii sfxn1 35
  • 75.05 (n)
  • 84.16 (a)
sfxn1 36
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004519 35
  • 60.02 (n)
  • 63.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11739 35
  • 55.38 (n)
  • 55.38 (a)
CG11739 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sfxn-1.5 35
  • 58.01 (n)
  • 55.13 (a)
sfxn-1.1 36
  • 48 (a)
ManyToMany
sfxn-1.2 36
  • 48 (a)
ManyToMany
sfxn-1.3 36
  • 47 (a)
ManyToMany
sfxn-1.4 36
  • 51 (a)
ManyToMany
sfxn-1.5 36
  • 53 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FSF1 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10377 36
  • 64 (a)
OneToMany
Species with no ortholog for SFXN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 SFXN1 Gene

ENSEMBL:
Gene Tree for SFXN1 (if available)
TreeFam:
Gene Tree for SFXN1 (if available)

Paralogs for SFXN1 Gene

Paralogs for SFXN1 Gene

(3) SIMAP similar genes for SFXN1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SFXN1: view

Variants for SFXN1 Gene

Sequence variations from dbSNP and Humsavar for SFXN1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs17065105 - 175,492,180(+) AGCCA(A/G)TCATT reference, missense, utr-variant-5-prime
rs34907038 - 175,521,940(-) AATGG(A/G)TGCAC reference, missense
rs16728 -- 175,529,484(-) TCTTG(-/GTTT)ATTTG utr-variant-3-prime
rs156370 -- 175,529,260(-) CCCGG(A/G)TTCAA utr-variant-3-prime
rs156371 -- 175,529,036(-) CCTTT(A/C)ACACA downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SFXN1 Gene

Variant ID Type Subtype PubMed ID
nsv469707 CNV Loss 16826518

Variation tolerance for SFXN1 Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SFXN1 Gene

HapMap Linkage Disequilibrium report
SFXN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFXN1 Gene

Disorders for SFXN1 Gene

Relevant External Links for SFXN1

Genetic Association Database (GAD)
SFXN1
Human Genome Epidemiology (HuGE) Navigator
SFXN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFXN1

No disorders were found for SFXN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFXN1 Gene

Publications for SFXN1 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for SFXN1 Gene

Sources for SFXN1 Gene

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