Sephs1 selenophosphate synthetase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sephs1provided by MGI
Official Full Name: selenophosphate synthetase 1provided by MGI
Primary source: MGI:MGI:1923580
See related: Ensembl:ENSMUSG00000026662 AllianceGenome:MGI:1923580
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SPS; SELD; SPS1; 1110046B24Rik
Summary: Predicted to enable protein heterodimerization activity; protein homodimerization activity; and selenide, water dikinase activity. Predicted to be involved in selenocysteine biosynthetic process. Predicted to be located in nuclear membrane and plasma membrane. Predicted to be active in cytoplasm. Is expressed in central nervous system; retina inner nuclear layer; retina nuclear layer; and retina outer nuclear layer. Orthologous to human SEPHS1 (selenophosphate synthetase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 19.5), limb E14.5 (RPKM 14.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A1; 2 3.02 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (4886375..4915368)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (4881564..4910557)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SEPHS1: Its evolution, function and roles in development and diseases.
Title: SEPHS1: Its evolution, function and roles in development and diseases.
Selenophosphate synthetase 1 deficiency exacerbates osteoarthritis by dysregulating redox homeostasis.
Title: Selenophosphate synthetase 1 deficiency exacerbates osteoarthritis by dysregulating redox homeostasis.
SEPHS1 is dispensable for pluripotency maintenance but indispensable for cardiac differentiation in mouse embryonic stem cells.
Title: SEPHS1 is dispensable for pluripotency maintenance but indispensable for cardiac differentiation in mouse embryonic stem cells.
Identification of Signaling Pathways for Early Embryonic Lethality and Developmental Retardation in Sephs1(-/-) Mice.
Title: Identification of Signaling Pathways for Early Embryonic Lethality and Developmental Retardation in Sephs1(-/-) Mice.
Constitutive Oxidative Stress by SEPHS1 Deficiency Induces Endothelial Cell Dysfunction.
Title: Constitutive Oxidative Stress by SEPHS1 Deficiency Induces Endothelial Cell Dysfunction.
Data found that several malignant characteristics of SPS1-deficient F9 cells were reversed, suggesting that SPS1 played a role in supporting and/or sustaining cancer. Selenophosphate synthetase 1 is an essential protein with roles in regulation of redox homoeostasis in mammals.
Title: Selenophosphate synthetase 1 is an essential protein with roles in regulation of redox homoeostasis in mammals.
murine and human solanesyl and decaprenyl diphosphate synthases are heterotetramers composed of newly characterized hDPS1 (mSPS1) and hDLP1 (mDLP1)
Title: Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125007 (e-PCR)
- UniSTS:161829

D18343 (e-PCR)
- UniSTS:124770

AW111620 (e-PCR)
- UniSTS:178561

SEPHS1_9288 (e-PCR)
- UniSTS:467877

RH131426 (e-PCR)
- UniSTS:214709

AI505014 (e-PCR)
- UniSTS:158914

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables selenide, water dikinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables selenide, water dikinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in selenocysteine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: selenide, water dikinase 1

Names: selenium donor protein 1; selenophosphate synthase 1

NP_001349636.1

EC 2.7.9.3

NP_001349637.1

EC 2.7.9.3

NP_001349638.1

EC 2.7.9.3

NP_001349639.1

EC 2.7.9.3

NP_780609.4

EC 2.7.9.3

XP_036013392.1

EC 2.7.9.3

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_001362707.1 → NP_001349636.1 selenide, water dikinase 1 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AK053638, BC066037, CJ173995

Consensus CDS

CCDS15659.1

UniProtKB/Swiss-Prot

Q8BH69

UniProtKB/TrEMBL

Q6NZN9, Q6P1B6

Related

ENSMUSP00000110671.2, ENSMUST00000115019.2

Conserved Domains (1) summary

TIGR00476
Location:19 → 333

selD; selenium donor protein
NM_001362708.1 → NP_001349637.1 selenide, water dikinase 1 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AL807778

Consensus CDS

CCDS15659.1

UniProtKB/Swiss-Prot

Q8BH69

UniProtKB/TrEMBL

Q6NZN9, Q6P1B6

Conserved Domains (1) summary

TIGR00476
Location:19 → 333

selD; selenium donor protein
NM_001362709.1 → NP_001349638.1 selenide, water dikinase 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AL807778

UniProtKB/TrEMBL

Q6NZN9, Q6P1B6

Conserved Domains (1) summary

TIGR00476
Location:19 → 297

selD; selenium donor protein
NM_001362710.1 → NP_001349639.1 selenide, water dikinase 1 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate coding exon in the 5' end compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AL807778

Conserved Domains (1) summary

cl10019
Location:28 → 287

PurM-like; AIR (aminoimidazole ribonucleotide) synthase related protein. This family includes Hydrogen expression/formation protein HypE, AIR synthases, FGAM (formylglycinamidine ribonucleotide) synthase and Selenophosphate synthetase (SelD). The N-terminal domain ...
NM_175400.6 → NP_780609.4 selenide, water dikinase 1 isoform a

See identical proteins and their annotated locations for NP_780609.4

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

BC065165, BC066037

Consensus CDS

CCDS15659.1

UniProtKB/Swiss-Prot

Q8BH69

UniProtKB/TrEMBL

Q6NZN9, Q6P1B6

Related

ENSMUSP00000027973.8, ENSMUST00000027973.14

Conserved Domains (1) summary

TIGR00476
Location:19 → 333

selD; selenium donor protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

4886375..4915368

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157499.1 → XP_036013392.1 selenide, water dikinase 1 isoform X1

Conserved Domains (1) summary

cl10019
Location:28 → 287

PurM-like; AIR (aminoimidazole ribonucleotide) synthase related protein. This family includes Hydrogen expression/formation protein HypE, AIR synthases, FGAM (formylglycinamidine ribonucleotide) synthase and Selenophosphate synthetase (SelD). The N-terminal domain ...