Pafah1b2 platelet-activating factor acetylhydrolase, isoform 1b, subunit 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pafah1b2provided by MGI
Official Full Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 2provided by MGI
Primary source: MGI:MGI:108415
See related: Ensembl:ENSMUSG00000003131 AllianceGenome:MGI:108415
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: Pafahb; mus[b]; 2610005M20Rik
Summary: Predicted to enable 1-alkyl-2-acetylglycerophosphocholine esterase activity; platelet-activating factor acetyltransferase activity; and protein dimerization activity. Involved in spermatogenesis. Located in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in lymphoma. Orthologous to human PAFAH1B2 (platelet activating factor acetylhydrolase 1b catalytic subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 37.3), CNS E18 (RPKM 36.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9; 9 A5.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (45876609..45923988, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (45965311..46012690, complement)

Chromosome 9 - NC_000075.7 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?

Knockdown of PAFAH1B2 strongly reduced Abeta secretion from human cells, and this effect was confirmed in primary cells derived from PAFAH1B2 knock-out mice
Title: Loss of PAFAH1B2 reduces amyloid-β generation by promoting the degradation of amyloid precursor protein C-terminal fragments.
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.
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.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (2) 1 citation
Targeted (1) 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:548367

AI228182 (e-PCR)
- UniSTS:261480

AI747451 (e-PCR)
- UniSTS:163457

RH141413 (e-PCR)
- UniSTS:223407

AU021353 (e-PCR)
- UniSTS:179889

Pafah1b2 (e-PCR), detects polymorphism
- UniSTS:144115

Pafah1b2 (e-PCR), detects polymorphism
- UniSTS:144116

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
enables 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	ISS Inferred from Sequence or Structural Similarity 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
involved_in positive regulation of macroautophagy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of macroautophagy	ISO Inferred from Sequence Orthology 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
involved_in 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
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: platelet-activating factor acetylhydrolase IB subunit alpha2

Names: PAF acetylhydrolase 30 kDa subunit; PAF-AH 30 kDa subunit; PAF-AH alpha2; PAF-AH subunit beta; platelet-activating factor acetylhydrolase IB subunit beta

NP_001344167.1

EC 3.1.1.47

NP_001344168.1

EC 3.1.1.47

NP_001344169.1

EC 3.1.1.47

NP_001344170.1

EC 3.1.1.47

NP_001344172.1

EC 3.1.1.47

NP_001344173.1

EC 3.1.1.47

NP_001344174.1

EC 3.1.1.47

NP_001344175.1

EC 3.1.1.47

NP_032801.2

EC 3.1.1.47

XP_030099983.1

EC 3.1.1.47

XP_030099984.1

EC 3.1.1.47

XP_036010577.1

EC 3.1.1.47

XP_036010578.1

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_001357238.1 → NP_001344167.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC122273

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:21 → 230

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_001357239.1 → NP_001344168.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC122273

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:16 → 225

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_001357240.1 → NP_001344169.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC122273

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:11 → 220

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_001357241.1 → NP_001344170.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4-8 all encode the same isoform (d).

Source sequence(s)

AC122273, BY293328, CA328016

Consensus CDS

CCDS23139.1

UniProtKB/Swiss-Prot

Q61206, Q6PKE6, Q7TNP3

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:8 → 217

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_001357243.1 → NP_001344172.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4-8 all encode the same isoform (d).

Source sequence(s)

AC122273, CA328016

Consensus CDS

CCDS23139.1

UniProtKB/Swiss-Prot

Q61206, Q6PKE6, Q7TNP3

UniProtKB/TrEMBL

A0A1L1SVK0

Related

ENSMUSP00000151196.2, ENSMUST00000215060.2

Conserved Domains (1) summary

cd01820
Location:8 → 217

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_001357244.1 → NP_001344173.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4-8 all encode the same isoform (d).

Source sequence(s)

AC122273

Consensus CDS

CCDS23139.1

UniProtKB/Swiss-Prot

Q61206, Q6PKE6, Q7TNP3

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:8 → 217

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_001357245.1 → NP_001344174.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4-8 all encode the same isoform (d).

Source sequence(s)

AC122273

Consensus CDS

CCDS23139.1

UniProtKB/Swiss-Prot

Q61206, Q6PKE6, Q7TNP3

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:8 → 217

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_001357246.1 → NP_001344175.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (9) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.

Source sequence(s)

AC122273, BY242419

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:8 → 178

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_008775.3 → NP_032801.2 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d

See identical proteins and their annotated locations for NP_032801.2

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4-8 all encode the same isoform (d).

Source sequence(s)

AC122273, BB856076, BC056211

Consensus CDS

CCDS23139.1

UniProtKB/Swiss-Prot

Q61206, Q6PKE6, Q7TNP3

UniProtKB/TrEMBL

A0A1L1SVK0

Related

ENSMUSP00000127851.2, ENSMUST00000172450.3

Conserved Domains (1) summary

cd01820
Location:8 → 217

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 ...

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_000075.7 Reference GRCm39 C57BL/6J

Range

45876609..45923988 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154685.1 → XP_036010578.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X2

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:11 → 220

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 ...
XM_030244123.2 → XP_030099983.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X1

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:16 → 225

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 ...
XM_036154684.1 → XP_036010577.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X1

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:16 → 225

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 ...
XM_030244124.2 → XP_030099984.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X2

UniProtKB/TrEMBL

A0A1L1SVK0

Conserved Domains (1) summary

cd01820
Location:11 → 220

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 ...