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PAFAH1B3

GENERAL INFORMATION

Gene name

 PAFAH1B3

Gene description

 Platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)

Protein class

 Enzymes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and membranous expression in several tissues, including a subsets of immune cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA035639
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 PAFAH1B3

Synonyms

Description

 Platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) (HGNC Symbol)

Entrez gene summary

 This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Chromosome

 19

Cytoband

 q13.2

Chromosome location (bp)

 42297033 - 42303546

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000079462 (version 83.38)

Entrez gene

 5050

UniProt

 Q15102 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15102

Antibodypedia

 PAFAH1B3 antibodies

PROTEIN BROWSER
PAFAH1B3-001
PAFAH1B3-002
PAFAH1B3-003
PAFAH1B3-004
PAFAH1B3-006
PAFAH1B3-007
PAFAH1B3-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PAFAH1B3-001
ENSP00000262890
ENST00000262890
Q15102 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
A0A024R0L6 [Target identity:100%; Query identity:100%]
Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa, isoform CRA_a
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003847 [1-alkyl-2-acetylglycerophosphocholine esterase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006629 [lipid metabolic process]
GO:0007399 [nervous system development]
GO:0007420 [brain development]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0042802 [identical protein binding]
GO:0047179 [platelet-activating factor acetyltransferase activity]
GO:0070062 [extracellular exosome]
Show all
 231 aa
25.7 kDa 		No 0
PAFAH1B3-002
ENSP00000469352
ENST00000599778
M0QXS6 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0007420 [brain development]
GO:0047179 [platelet-activating factor acetyltransferase activity]
Show all
 95 aa
10.8 kDa 		No 0
PAFAH1B3-003
ENSP00000472950
ENST00000601865
M0R323 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0007420 [brain development]
GO:0047179 [platelet-activating factor acetyltransferase activity]
Show all
 96 aa
10.9 kDa 		No 0
PAFAH1B3-004
ENSP00000473065
ENST00000595530
M0R389 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0007420 [brain development]
GO:0047179 [platelet-activating factor acetyltransferase activity]
Show all
 165 aa
18.4 kDa 		No 0
PAFAH1B3-006
ENSP00000470753
ENST00000596265
M0QZT2 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0007420 [brain development]
GO:0047179 [platelet-activating factor acetyltransferase activity]
Show all
 140 aa
15.7 kDa 		No 0
PAFAH1B3-007
ENSP00000471933
ENST00000594989
M0R1K3 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0007420 [brain development]
GO:0047179 [platelet-activating factor acetyltransferase activity]
Show all
 202 aa
22.5 kDa 		No 0
PAFAH1B3-201
ENSP00000444935
ENST00000538771
Q15102 [Direct mapping]
Platelet-activating factor acetylhydrolase IB subunit gamma
A0A024R0L6 [Target identity:100%; Query identity:100%]
Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa, isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003847 [1-alkyl-2-acetylglycerophosphocholine esterase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0007283 [spermatogenesis]
GO:0007399 [nervous system development]
GO:0007420 [brain development]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0042802 [identical protein binding]
GO:0046982 [protein heterodimerization activity]
GO:0047179 [platelet-activating factor acetyltransferase activity]
GO:0070062 [extracellular exosome]
Show all
 231 aa
25.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.