ABHD5

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 (Chromosome progress)

Cytoband

p21.33

Chromosome location (bp)

43731605 - 43775863

Ensembl

ENSG00000011198 (version 73.37)

Entrez gene

51099

UniProt

Q8WTS1 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WTS1

Antibodypedia

ABHD5 antibodies
 

PROTEIN VIEW

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ABHD5-001
 
ABHD5-003
 
ABHD5-004
 
ABHD5-005
 
ABHD5-006
 
 
 
 
 

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
Show all »
Show » 45 5.1 No 0
ABHD5-004 ENSP00000013894
ENST00000013894
F8W7B5
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Show » 44 5 No 0
ABHD5-005 ENSP00000391582
ENST00000456453
C9JBM3
Show all »
Show » Show » 127 14.2 No 0
ABHD5-006 ENSP00000392159
ENST00000413300
H7BZY9
Show all »
155 18.1 No 0