Reviewed, UniProtKB/Swiss-Prot Q8WTS1 (ABHD5_HUMAN)

Names and origin

Protein names

Recommended name:
    Abhydrolase domain-containing protein 5

Gene names

Name:	ABHD5
Synonyms:	NCIE2
ORF Names:	CGI-58

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	349 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Interacts with ADRP and PLIN By similarity.
Subcellular location	CytoplasmBy similarity. Lipid dropletBy similarity. Note= Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA By similarity.
Tissue specificity	Widely expressed in various tissues, including skin, lymphocytes, liver, skeletal muscle and brain.
Involvement in disease	Defects in ABHD5 are the cause of Chanarin-Dorfman syndrome (CDS) [MIM:275630]; also called triglyceride storage disease with impaired long-chain fatty acid oxidation or neutral lipid storage disease with ichthyosis. CDS is an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.
Sequence similarities	Belongs to the peptidase S33 family.
Caution	Asn-153 is present instead of the conserved Ser which is expected to be an active site residue. Ser-298 is present instead of the conserved His which is expected to be an active site residue.

Ontologies

Keywords
Cellular component	Cytoplasm Lipid droplet
Disease	Cataract Deafness Disease mutation Ichthyosis
Gene Ontology (GO)
Cellular component	monolayer-surrounded lipid storage body Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 349	349	Abhydrolase domain-containing protein 5
Natural variations
	Natural variant	7	1	E → K in CDS.
	Natural variant	72	1	I → T: dbSNP rs2302349.
	Natural variant	130	1	Q → P in CDS. dbSNP rs28939077.
	Natural variant	260	1	E → K in CDS.
Experimental info
	Sequence conflict	263	1	F → S in AAD34053. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8WTS1-1 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 85958A2DEC169C82	FASTA	349	39,096
	10 20 30 40 50 60 MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG 70 80 90 100 110 120 NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF 130 140 150 160 170 180 DSDAEEVENQ FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG 190 200 210 220 230 240 FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF 250 260 270 280 290 300 EDDTVTEYIY HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI 310 320 330 340 DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome." Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.-L., Weissenbach J., Oezguec M., Lathrop M., Prud'homme J.-F., Fischer J. Am. J. Hum. Genet. 69:1002-1012(2001) [PubMed: 11590543] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANTS CDS LYS-7; PRO-130 AND LYS-260.
[2]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AL606838 Genomic DNA. Translation: CAD12731.1. AF151816 mRNA. Translation: AAD34053.1. BC021958 mRNA. Translation: AAH21958.1.
RefSeq	NP_057090.2.
UniGene	Hs.19385 Hs.655670
3D structure databases
ModBase	Search...
Protein family/group databases
MEROPS	S33.975.
Proteomic databases
PeptideAtlas	Q8WTS1.
Genome annotation databases
Ensembl	ENSG00000011198. Homo sapiens. [Contig view]
GeneID	51099.
KEGG	hsa:51099.
Organism-specific databases
HGNC	HGNC:21396. ABHD5.
MIM	275630. phenotype. 604780. gene.
Orphanet	313. Lamellar ichthyosis. 165. Neutral Lipid Storage Disease.
PharmGKB	PA134891622.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q8WTS1.
HOVERGEN	Q8WTS1.
Gene expression databases
ArrayExpress	Q8WTS1.
CleanEx	HS_ABHD5.
GermOnline	ENSG00000011198. Homo sapiens.
Family and domain databases
InterPro	IPR003089. AB_hydrolase. IPR000073. AB_hydrolase_1. IPR002410. Peptidase_S33. [Graphical view]
Pfam	PF00561. Abhydrolase_1. 1 hit. [Graphical view]
PRINTS	PR00111. ABHYDROLASE. PR00793. PROAMNOPTASE.
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

ABHD5_HUMAN

Accession

Primary (citable) accession number: Q8WTS1
Secondary accession number(s): Q9Y369

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	March 1, 2002
Last modified:	July 22, 2008
This is version 59 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)