ABHD5

GENERAL INFORMATION

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Gene name

ABHD5

Gene description

Abhydrolase domain containing 5

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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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

Cytoplasmic expression in selected tissues at variable levels.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA035851 , HPA035852 , CAB020685
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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

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

ABHD5 (HGNC Symbol)

Synonyms

CGI-58, NCIE2

Description

Abhydrolase domain containing 5 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

Chromosome

3

Cytoband

p21.33

Chromosome location (bp)

43690113 - 43734371

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000011198 (version 78.38)

Entrez gene

51099

UniProt

Q8WTS1 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WTS1

Antibodypedia

ABHD5 antibodies


PROTEIN BROWSER

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ENST00000413300
 
ENST00000454293
 
ENST00000456453
 
ENST00000458276
 
 
 
 


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)

ABHD5-001 ENSP00000390849
ENST00000458276
Q8WTS1
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Show » Show » 349 39.1 No 0
ABHD5-003 ENSP00000412014
ENST00000454293
C9J1D1
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Show » 45 5.1 No 0
ABHD5-005 ENSP00000391582
ENST00000456453
C9JBM3
Show all »
Show » Show » 127 14.2 No 0
ABHD5-006 ENSP00000392159
ENST00000413300
H7BZY9
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Show » 155 18.1 No 0