PAFAH1B3

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ductal epithelium, gall bladder, urothelium, placenta, fallopian tube and a subset of lymphoid cells showed moderate to strong cytoplasmic and membranous staining. Remaining normal cells were generally negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA035639
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5050

UniProt

Q15102 (UniProt - Evidence at protein level)

neXtProt

NX_Q15102

Antibodypedia

PAFAH1B3 antibodies


PROTEIN BROWSER

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ENST00000262890
 
ENST00000538771
 
ENST00000594989
 
ENST00000595530
 
ENST00000596265
 
ENST00000599778
 
ENST00000601865
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAFAH1B3-001 ENSP00000262890
ENST00000262890
Q15102
Show all »
Show » Show » 231 25.7 No 0
PAFAH1B3-002 ENSP00000469352
ENST00000599778
M0QXS6
Show all »
Show » Show » 95 10.8 No 0
PAFAH1B3-003 ENSP00000472950
ENST00000601865
M0R323
Show all »
Show » Show » 96 10.9 No 0
PAFAH1B3-004 ENSP00000473065
ENST00000595530
M0R389
Show all »
Show » Show » 165 18.4 No 0
PAFAH1B3-006 ENSP00000470753
ENST00000596265
M0QZT2
Show all »
Show » Show » 140 15.7 No 0
PAFAH1B3-007 ENSP00000471933
ENST00000594989
Show » 202 22.5 No 0
PAFAH1B3-201 ENSP00000444935
ENST00000538771
Q15102
Show all »
Show » Show » 231 25.7 No 0