Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
94081
Gene name Gene Name - the full gene name approved by the HGNC.
Sideroflexin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SFXN1
Synonyms (NCBI Gene) Gene synonyms aliases
SLC56A1, TCC
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615569 16085 ENSG00000164466
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Leptin levels in type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32819300
Adenocarcinoma of Lung Stimulate 38233752
Glioma Associate 27898674
Lymphatic Metastasis Stimulate 38233752
Neoplasms Associate 38233752
Schizophrenia Associate 34323598
Squamous Cell Carcinoma of Head and Neck Associate 35409173
Synovitis Associate 29968759
Thyroid Cancer Papillary Associate 34590520