MitoProteome Database

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MT001375

UniProt Annotations

Entry Information

Gene Name	abhydrolase domain containing 11
Protein Entry	ABHDB_HUMAN
UniProt ID	Q8NFV4
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=A; IsoId=Q8NFV4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928; Name=3; Synonyms=C; IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927; Name=4; Synonyms=D; IsoId=Q8NFV4-4; Sequence=VSP_023924; Name=5; Synonyms=E; IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930; Name=6; IsoId=Q8NFV4-6; Sequence=VSP_046994; Note=Gene prediction based on EST data.;
Caution	It is uncertain whether Met-1 or Met-10 is the initiator. {ECO:0000305}.
Disease	Note=ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Sequence Caution	Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAS07472.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the AB hydrolase superfamily. {ECO:0000305}.
Tissue Specificity	Ubiquitously expressed. {ECO:0000269\|PubMed:12073013}.