Gene Gene information from NCBI Gene database.
Entrez ID 94081
Gene name Sideroflexin 1
Gene symbol SFXN1
Synonyms (NCBI Gene)
SLC56A1TCC
Chromosome 5
Chromosome location 5q35.2
miRNA miRNA information provided by mirtarbase database.
955
miRTarBase ID miRNA Experiments Reference
MIRT001335 hsa-miR-1-3p pSILAC 18668040
MIRT001335 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT001335 hsa-miR-1-3p Proteomics 18668040
MIRT030923 hsa-miR-21-5p Microarray 18591254
MIRT031779 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615569 16085 ENSG00000164466
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9B4
Protein name Sideroflexin-1
Protein function Amino acid transporter importing serine, an essential substrate of the mitochondrial branch of the one-carbon pathway, into mitochondria. Mitochondrial serine is then converted to glycine and formate, which exits to the cytosol where it is used
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03820 SFXNs 10 322 Sideroflexins Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in tissues with high one-carbon metabolism activity, such as blood, liver and kidney. {ECO:0000269|PubMed:30442778}.
Sequence
Sequence length 322
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SARCOPENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16697865, 17854674
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 11759867
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 8520784
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 15880523
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30747829
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 11062688, 14678183
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31088428
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 11062688, 11435891, 14678183
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 20024851
★☆☆☆☆
Found in Text Mining only