Gene Gene information from NCBI Gene database.
Entrez ID 8991
Gene name Selenium binding protein 1
Gene symbol SELENBP1
Synonyms (NCBI Gene)
EHMTOHEL-S-134PLPSBMTOSBP56SP56hSBP
Chromosome 1
Chromosome location 1q21.3
Summary This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs758495626 C>A,T Pathogenic, likely-pathogenic Intron variant, coding sequence variant, missense variant
rs1357490520 C>A,T Pathogenic Splice donor variant
rs1553204817 C>A Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs1553204840 G>A Likely-pathogenic, pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
79
miRTarBase ID miRNA Experiments Reference
MIRT017378 hsa-miR-335-5p Microarray 18185580
MIRT029152 hsa-miR-26b-5p Microarray 19088304
MIRT050594 hsa-miR-20a-5p CLASH 23622248
MIRT049678 hsa-miR-92a-3p CLASH 23622248
MIRT1334251 hsa-miR-128 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 16189514, 19118533, 29892012, 31515488, 32296183
GO:0005615 Component Extracellular space HDA 16502470
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604188 10719 ENSG00000143416
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13228
Protein name Methanethiol oxidase (MTO) (EC 1.8.3.4) (56 kDa selenium-binding protein) (SBP56) (SP56) (Selenium-binding protein 1)
Protein function Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria (PubMed:29255262). Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytopla
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05694 SBP56 6 472 56kDa selenium binding protein (SBP56) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in liver, lung, colon, prostate, kidney and pancreas. In brain, present both in neurons and glia (at protein level). Down-regulated in lung adenocarcinoma, colorectal carcinoma and ovarian cancer. Two
Sequence
Sequence length 472
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Sulfur metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Extra oral halitosis Likely pathogenic rs1553204817, rs1553204840, rs758495626 RCV000664061
RCV000664063
RCV000664052
Extraoral halitosis due to methanethiol oxidase deficiency Likely pathogenic; Pathogenic rs1553204817, rs1553204840, rs758495626, rs1357490520 RCV000710010
RCV000710013
RCV000710012
RCV000710011
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SELENBP1-related disorder Likely benign; Benign rs779841616, rs539358067, rs201363174, rs41285000, rs74397187, rs368030000, rs146240164, rs76846932, rs199891634, rs199870911, rs146726959, rs139115502 RCV003897112
RCV003924140
RCV003916898
RCV003964450
RCV003911425
RCV003914111
RCV003959525
RCV003964090
RCV003959275
RCV003932180
RCV003927384
RCV003971560
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 20332323
Adenocarcinoma Bronchiolo Alveolar Inhibit 14991897
Adenocarcinoma of Lung Associate 14991897, 34734491, 35205284
Arthritis Rheumatoid Associate 24764015
Barrett Esophagus Inhibit 20332323
Beta ketothiolase deficiency Inhibit 14991897
Bradycardia Associate 31450690
Brain Diseases Associate 33603109
Breast Neoplasms Inhibit 23704933
Bronchial Diseases Associate 23977169