Agps alkylglycerone phosphate synthase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Agpsprovided by MGI
Official Full Name: alkylglycerone phosphate synthaseprovided by MGI
Primary source: MGI:MGI:2443065
See related: Ensembl:ENSMUSG00000042410 AllianceGenome:MGI:2443065
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: bs2; Adas; Adps; Adaps; Adhaps; Aldhpsy; 5832437L22; 9930035G10Rik
Summary: Predicted to enable FAD binding activity and alkylglycerone-phosphate synthase activity. Predicted to be involved in ether lipid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; respiratory system; sensory organ; and urinary system. Used to study rhizomelic chondrodysplasia punctata type 3. Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata type 3. Orthologous to human AGPS (alkylglycerone phosphate synthase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in mammary gland adult (RPKM 12.0), placenta adult (RPKM 9.8) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C3; 2 44.77 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (75662477..75761694)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (75832177..75931350)

Chromosome 2 - NC_000068.8 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: 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?

Linkage analysis mapped the bs2 locus to mouse chromosome 2
Title: Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Spontaneous (1) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:234434

AW123847 (e-PCR)
- UniSTS:178643

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables FAD binding	ISS Inferred from Sequence or Structural Similarity more info
enables alkylglycerone-phosphate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alkylglycerone-phosphate synthase activity	ISO Inferred from Sequence Orthology more info
enables alkylglycerone-phosphate synthase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ether lipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in ether lipid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in peroxisomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alkyldihydroxyacetonephosphate synthase, peroxisomal

Names: alkyl-DHAP synthase

NP_766254.2

EC 2.5.1.26

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_172666.3 → NP_766254.2 alkyldihydroxyacetonephosphate synthase, peroxisomal

Status: VALIDATED

Source sequence(s)

AL773533, BC063086, BQ176868, BY713473

Consensus CDS

CCDS16151.2

UniProtKB/Swiss-Prot

Q8C0I1

UniProtKB/TrEMBL

A2AL50

Related

ENSMUSP00000041967.8, ENSMUST00000047232.14

Conserved Domains (3) summary

COG0277
Location:213 → 665

GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

pfam01565
Location:219 → 362

FAD_binding_4; FAD binding domain

pfam02913
Location:397 → 670

FAD-oxidase_C; FAD linked oxidases, C-terminal domain