Pgap1 post-GPI attachment to proteins 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pgap1provided by MGI
Official Full Name: post-GPI attachment to proteins 1provided by MGI
Primary source: MGI:MGI:2443342
See related: Ensembl:ENSMUSG00000073678 AllianceGenome:MGI:2443342
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: oto; A530084K22; 5033403E17Rik; 9030223K07Rik; D230012E17Rik
Summary: Predicted to enable phosphatidylinositol deacylase activity. Acts upstream of or within embryonic pattern specification; regionalization; and sensory perception of sound. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including brain; genitourinary system; and neural ectoderm. Used to study holoprosencephaly. Orthologous to human PGAP1 (post-GPI attachment to proteins inositol deacylase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in whole brain E14.5 (RPKM 6.6), CNS E18 (RPKM 6.5) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C1.2; 1 27.25 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (54512159..54596843, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (54473000..54557684, complement)

Chromosome 1 - NC_000067.7 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?

PGAP1-deficient spermatozoa showed weak attachment to the zona pellucida and a severely diminished rate of fertilization
Title: PGAP1 knock-out mice show otocephaly and male infertility.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
otocephaly GeneReviews: Not available

Variation

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Alleles

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

Targeted (3) 1 citation
Radiation induced (1) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on ester bonds	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol deacylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol deacylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in GPI anchor biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in GPI anchor metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within anterior/posterior axis specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within forebrain regionalization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within head development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within head development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ER to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: GPI inositol-deacylase

Names: post-GPI attachment to proteins factor 1

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_001163314.2 → NP_001156786.1 GPI inositol-deacylase

See identical proteins and their annotated locations for NP_001156786.1

Status: VALIDATED

Source sequence(s)

AC124538, AK017146, AK033485, AK041133, AK138171, AK141991, BG803764, BM250484, BM943932, CF745447, CK392830, CN536101, CV558383

Consensus CDS

CCDS48260.1

UniProtKB/Swiss-Prot

E9QKG7, Q3UUQ7, Q8BQ77

Related

ENSMUSP00000095346.4, ENSMUST00000097739.5

Conserved Domains (1) summary

pfam07819
Location:83 → 302

PGAP1; PGAP1-like 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_000067.7 Reference GRCm39 C57BL/6J

Range

54512159..54596843 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_175508.2: Suppressed sequence

Description

NM_175508.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.