SELENOF selenoprotein F [Homo sapiens (human)] - Gene

Summary

Official Symbol: SELENOFprovided by HGNC
Official Full Name: selenoprotein Fprovided by HGNC
Primary source: HGNC:HGNC:17705
See related: Ensembl:ENSG00000183291 MIM:606254; AllianceGenome:HGNC:17705
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SEP15
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]
Expression: Ubiquitous expression in thyroid (RPKM 119.6), urinary bladder (RPKM 69.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (86862445..86914577, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (86703158..86755135, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (87328128..87380260, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinct Roles of SELENOF in Different Human Cancers.
Title: Distinct Roles of SELENOF in Different Human Cancers.
Role of SELENBP1 and SELENOF in prostate cancer bioenergetics.
Title: Role of SELENBP1 and SELENOF in prostate cancer bioenergetics.
One-Pot Chemical Protein Synthesis Utilizing Fmoc-Masked Selenazolidine to Address the Redox Functionality of Human Selenoprotein F.
Title: One-Pot Chemical Protein Synthesis Utilizing Fmoc-Masked Selenazolidine to Address the Redox Functionality of Human Selenoprotein F.
Loss of SELENOF Induces the Transformed Phenotype in Human Immortalized Prostate Epithelial Cells.
Title: Loss of SELENOF Induces the Transformed Phenotype in Human Immortalized Prostate Epithelial Cells.
Association of the selenoprotein 15-kDa (SEP15) polymorphisms with cancer risk: a meta-analysis.
Title: Association of the selenoprotein 15-kDa (SEP15) polymorphisms with cancer risk: a meta-analysis.
The aim of the study was to investigate the association between rs5859 in Sep15, rs1139793 in TrxR2 polymorphisms with the risks of KBD and to detect the expression of AP-1 pathway.
Title: The study on polymorphisms of Sep15 and TrxR2 and the expression of AP-1 signaling pathway in Kashin-Beck disease.
this work has provided experimental data for the molecular mechanism of SELENOF gene regulation, as well as uncovered the involvement of HSF1 in selenotranscriptomic for the first time.
Title: Transcriptional Regulation of Selenoprotein F by Heat Shock Factor 1 during Selenium Supplementation and Stress Response.
The study suggests the possible importance of SEPP1 rs3877899 and SEP15 rs5859 polymorphisms in susceptibility to breast cancer.
Title: SEPP1 and SEP15 gene polymorphisms and susceptibility to breast cancer.
Results indicate an interaction between selenium status and selenoprotein genotypes that may contribute to the disparity in prostate cancer incidence and outcome experienced by African Americans
Title: Correlations of SELENOF and SELENOP genotypes with serum selenium levels and prostate cancer.
The allelic and genotypic frequencies did not differ between rapid and nonrapid progressors; however, the presence of the AA genotype of the rs5859 polymorphism was associated with a shorter time of progression to AIDS compared with GG homozygotes (hazard ratio = 3.62, 95% CI = 1.55-8.43, p = 0.003).
Title: Role of SEP15 Gene Polymorphisms in the Time of Progression to AIDS.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54091 (e-PCR)
- UniSTS:109328

D1S3349 (e-PCR)
- UniSTS:59938

SHGC-75087 (e-PCR)
- UniSTS:57124

G54028 (e-PCR)
- UniSTS:109410

AL009717 (e-PCR)
- UniSTS:67198

RH102912 (e-PCR)
- UniSTS:97246

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables oxidoreductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables selenium binding	IEA Inferred from Electronic Annotation more info
enables thioredoxin peroxidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in 'de novo' post-translational protein folding	TAS Traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in sperm DNA condensation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: selenoprotein F

Names: 15 kDa selenoprotein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004261.5 → NP_004252.2 selenoprotein F isoform 1 precursor

See identical proteins and their annotated locations for NP_004252.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).

Source sequence(s)

AK225640, BC016359, BU941543

Consensus CDS

CCDS76178.1

UniProtKB/Swiss-Prot

A0A0B4J1S4, O60613, Q4GZG7, Q8WU00, Q9BS64, Q9GZW0, Q9NR01

Related

ENSP00000328729.6, ENST00000331835.10

Conserved Domains (1) summary

pfam08806
Location:88 → 163

Sep15_SelM; Sep15/SelM redox domain
NM_203341.3 → NP_976086.1 selenoprotein F isoform 2 precursor

See identical proteins and their annotated locations for NP_976086.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AK225640, BC016359, BC021697

Consensus CDS

CCDS76177.1

UniProtKB/TrEMBL

A0A3B3IT39

Related

ENSP00000359585.2, ENST00000370554.5

Conserved Domains (1) summary

pfam08806
Location:88 → 105

Sep15_SelM; Sep15/SelM redox domain

RNA

NR_144512.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' terminal exon compared to variant 1. It is represented as non-coding because it lacks an in-frame ORF.

Source sequence(s)

AK225640, BC016359, DB452758
NR_144513.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate 5' terminal exon compared to variant 1. It is represented as non-coding because it lacks an in-frame ORF.

Source sequence(s)

AK225640, BC016359, HY018581