1. Gene
  2. SELENOF - selenoprotein F Gene

SELENOF - selenoprotein F Gene

Homo sapiens

Also known as SEP15

Gene ID: 9403 | Gene type: protein coding

About SELENOF

Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:86,862,445-86,914,577 (from NCBI)

This gene has 7 transcripts (splice variants), 136 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 119.6), urinary bladder (RPKM 69.9) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. It has also been suggested to have a role in Cancer etiology. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2016]

SELENOF Products(2)

mRNA Protein Name
NM_004261.5 NP_004252.2 selenoprotein F isoform 1 precursor
NM_203341.3 NP_976086.1 selenoprotein F isoform 2 precursor

SELENOF Protein Structure

Sep15_SelM

Sep15_SelM: Sep15/SelM redox domain (85 - 160)

  • 0
  • 100
  • 162 a.a.
Protein Preferred Names Protein Names

selenoprotein F

15 kDa selenoprotein

Related Diseases

Diseases Alias
Keshan Disease

Caused By Deficiency Of Selenium In The Diet

Enlarged Heart And Poor Heart Function

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SELENOF VGNC VGNC:80354
Bos taurus SELENOF VGNC VGNC:109402
Mus musculus SELENOF MGD MGI:1927947
Rattus norvegicus SELENOF RGD RGD:621291