Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pafah1b3provided by MGI
Official Full Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 3provided by MGI
Primary source: MGI:MGI:108414
See related: Ensembl:ENSMUSG00000005447 AllianceGenome:MGI:108414
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: Pafahg; mus[g]
Summary: Predicted to enable 1-alkyl-2-acetylglycerophosphocholine esterase activity; platelet-activating factor acetyltransferase activity; and protein dimerization activity. Acts upstream of or within spermatogenesis. Located in cytoplasm. Is expressed in several structures, including alimentary system; eye; genitourinary system; hemolymphoid system gland; and nervous system. Orthologous to human PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in whole brain E14.5 (RPKM 110.4), CNS E14 (RPKM 96.3) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 13.73 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (24994473..24997377, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (25295048..25297986, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

In vivo RNAi screening identifies Pafah1b3 as a target for combination therapy with TKIs in BCR-ABL1(+) BCP-ALL.
Title: In vivo RNAi screening identifies Pafah1b3 as a target for combination therapy with TKIs in BCR-ABL1(+) BCP-ALL.
Catalytic subunits of the Pafah1b complex, Pafah1b2 and Pafah1b3, specifically bind to the NPxYL sequence of VLDLR, but not to ApoER2.
Title: The Pafah1b complex interacts with the reelin receptor VLDLR.
These observations support the further development of PMS-601 as an adjunctive therapy for HIV-1 associated neurocognitive disorders.
Title: Development of a platelet-activating factor antagonist for HIV-1 associated neurocognitive disorders.
study examined biochemical interactions of Pafah1b Alpha1 & Alpha2 subunits with the Reelin signaling machinery & demonstrated that Alpha2, but not Alpha1, binds Dab1 in a phosphorylation-independent manner
Title: Differential interaction of the Pafah1b alpha subunits with the Reelin transducer Dab1.
role in spermatogenesis
Title: Previously uncharacterized roles of platelet-activating factor acetylhydrolase 1b complex in mouse spermatogenesis.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

NoName (e-PCR)
- UniSTS:548368

D1Rat96 (e-PCR)
- UniSTS:118630

RH133477 (e-PCR)
- UniSTS:216760

Pafah1b3 (e-PCR), detects polymorphism
- UniSTS:144117

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity	ISO Inferred from Sequence Orthology more info
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables platelet-activating factor acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables platelet-activating factor acetyltransferase activity	IEA Inferred from Electronic Annotation more info
contributes_to platelet-activating factor acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex	ISO Inferred from Sequence Orthology more info
part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: platelet-activating factor acetylhydrolase IB subunit alpha1

Names: PAF acetylhydrolase 29 kDa subunit; PAF-AH 29 kDa subunit; PAF-AH alpha1; PAF-AH gamma; PAF-AH subunit gamma; PAFAH subunit gamma; platelet-activating factor acetylhydrolase IB subunit gamma

NP_001344279.1

EC 3.1.1.47

NP_001403976.1

EC 3.1.1.47

NP_032802.1

EC 3.1.1.47

XP_017177516.1

EC 3.1.1.47

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_001357350.2 → NP_001344279.1 platelet-activating factor acetylhydrolase IB subunit alpha1 isoform a

Status: VALIDATED

Source sequence(s)

AC156992

Consensus CDS

CCDS20979.1

UniProtKB/Swiss-Prot

Q61205

UniProtKB/TrEMBL

Q3TJC2

Conserved Domains (1) summary

cd01820
Location:8 → 206

PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...
NM_001417047.1 → NP_001403976.1 platelet-activating factor acetylhydrolase IB subunit alpha1 isoform b

Status: VALIDATED

Source sequence(s)

AC156992

UniProtKB/TrEMBL

Q8CA83

Related

ENSMUSP00000120379.2, ENSMUST00000155118.2
NM_008776.3 → NP_032802.1 platelet-activating factor acetylhydrolase IB subunit alpha1 isoform a

See identical proteins and their annotated locations for NP_032802.1

Status: VALIDATED

Source sequence(s)

AC156992

Consensus CDS

CCDS20979.1

UniProtKB/Swiss-Prot

Q61205

UniProtKB/TrEMBL

Q3TJC2

Related

ENSMUSP00000005583.6, ENSMUST00000005583.12

Conserved Domains (1) summary

cd01820
Location:8 → 206

PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...

RNA

NR_184416.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC156992

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_000073.7 Reference GRCm39 C57BL/6J

Range

24994473..24997377 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322027.2 → XP_017177516.1 platelet-activating factor acetylhydrolase IB subunit alpha1 isoform X1

UniProtKB/Swiss-Prot

Q61205

UniProtKB/TrEMBL

Q3TJC2

Conserved Domains (1) summary

cd01820
Location:8 → 206

PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...