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Aliases for SFXN1 Gene

Aliases for SFXN1 Gene

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

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. Diseases associated with SFXN1 include aceruloplasminemia. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SFXN4.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys72 and Lys170
  • Modification sites at PhosphoSitePlus

Other Protein References for SFXN1 Gene

No data available for DME Specific Peptides for SFXN1 Gene

Domains for SFXN1 Gene

Gene Families for SFXN1 Gene

HGNC:
  • SFXN :Sideroflexins

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 :
  • Q9H9B4
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

Gene Ontology (GO) - Molecular Function for SFXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008324 cation transmembrane transporter activity --
GO:0015075 ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SFXN1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for SFXN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SFXN1: view

Pathways 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:0006811 ion transport --
GO:0006826 iron ion transport IEA --
GO:0030218 erythrocyte differentiation IEA --
GO:0034220 ion transmembrane transport IEA --
GO:0055072 iron ion homeostasis IEA --
genes like me logo Genes that share ontologies with SFXN1: view

No data available for Pathways by source for SFXN1 Gene

Compounds for SFXN1 Gene

(1) HMDB Compounds for SFXN1 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6
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

Integrated Proteomics: protein expression 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 expressions with SFXN1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SFXN1 35
  • 99.69 (n)
  • 99.69 (a)
SFXN1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SFXN1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SFXN1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfxn1 35
  • 85.09 (n)
  • 95.65 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia xm278-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sfxn1 35
  • 78.99 (n)
  • 90.68 (a)
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-1.1 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 35
  • 58.01 (n)
  • 55.13 (a)
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

Selected 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 MAF
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
rs156372 -- 175,528,791(-) AGACG(C/T)GTCGA downstream-variant-500B, utr-variant-3-prime
rs156373 -- 175,527,858(-) GGGCC(A/G)ACTGT 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

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

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SFXN1 Gene including...

Search for SFXN1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SFXN1 Gene

Relevant External Links for SFXN1

Genetic Association Database (GAD)
SFXN1
Human Genome Epidemiology (HuGE) Navigator
SFXN1
genes like me logo Genes that share disorders with SFXN1: view

No data available for UniProtKB/Swiss-Prot for SFXN1 Gene

Publications for SFXN1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. n-6 PUFAs downregulate expression of the tricarboxylate carrier in rat liver by transcriptional and posttranscriptional mechanisms. (PMID: 15060089) Siculella L. … Gnoni G.V. (J. Lipid Res. 2004) 3
  5. Nuclear import of histone deacetylase 5 by requisite nuclear localization signal phosphorylation. (PMID: 21081666) Greco T.M. … Cristea I.M. (Mol. Cell Proteomics 2011) 3

Products for SFXN1 Gene

Sources for SFXN1 Gene

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