2. Gene
  3. ABHD11 - abhydrolase domain containing 11 Gene

ABHD11 - abhydrolase domain containing 11 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PP1226; WBSCR21

Gene ID: 83451 | Gene type: protein coding

About ABHD11

This gene has 14 transcripts (splice variants), 210 orthologues and 12 paralogues. Ubiquitous expression in colon (RPKM 10.9), thyroid (RPKM 9.6) and 25 other tissues.

Summary

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]

ABHD11 Products(4)

mRNA Protein Name
NM_001145364.3 NP_001138836.2 protein ABHD11 isoform 8
NM_001301058.2 NP_001287987.2 protein ABHD11 isoform 9
NM_148912.4 NP_683710.2 protein ABHD11 isoform 1
NM_148913.4 NP_683711.2 protein ABHD11 isoform 2
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables lipase activity IDA
IDA: Inferred from direct assay
32579589 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
32792488 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
32579589 GOA
part of oxoglutarate dehydrogenase complex IDA
IDA: Inferred from direct assay
32792488 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABHD11 Protein Structure

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (69 - 308)

  • 0
  • 100
  • 200
  • 315 a.a.
Protein Preferred Names Protein Names

protein ABHD11

Williams Beuren syndrome chromosome region 21

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (5)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-18540 KT109 Inhibitor 99.82% Unkown
HY-128035 ML-211 Inhibitor 98.06% Unkown
HY-18544 AA38-3 Inhibitor 99.89% Unkown
HY-129121 ML-​226 Inhibitor / Unkown
HY-RS00085 ABHD11 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus ABHD11 MGD MGI:1916008
Macaca mulatta ABHD11 VGNC VGNC:69426
Canis familiaris ABHD11 VGNC VGNC:37457
Felis catus ABHD11 VGNC VGNC:59475
Bos taurus ABHD11 VGNC VGNC:25489
Rattus norvegicus ABHD11 RGD RGD:1304681