ABHD1 - abhydrolase domain containing 1 Gene

Also Known as LABH1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84696

About ABHD1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,123,815-27,130,812 (from NCBI)

This gene has 8 transcripts (splice variants), 178 orthologues and 3 paralogues. Biased expression in testis (RPKM 24.6) and fat (RPKM 1.9).

Summary

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic Enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

ABHD1 Products (1)

mRNA Protein Name
NM_032604.4 NP_115993.3 protein ABHD1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 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

ABHD1 Protein Structure

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (125 - 363)

  • 0
  • 100
  • 200
  • 300
  • 405 a.a.
Protein Preferred Names Protein Names

protein ABHD1

  • abhydrolase domain-containing protein 1

ABHD1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
ABHD1 Q96SE0 KASH5 Homo sapiens Q8N6L0
Validated Y2H
25416956
Intra
ABHD1 Q96SE0 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Acute Laryngitis

  • Acute Laryngitis Nos

  • Laryngeal Inflammation

  • Laryngitis Nos

  • Larynx Inflammation
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

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS00083 ABHD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18982 Abhd1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25471 Abhd1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Rattus norvegicus ABHD1 RGD RGD:1310988
Canis familiaris ABHD1 VGNC VGNC:37456
Macaca mulatta ABHD1 VGNC VGNC:69452
Mus musculus ABHD1 MGD MGI:1931013
Felis catus ABHD1 VGNC VGNC:59474
Bos taurus ABHD1 VGNC VGNC:25487
Others ABHD1 NCBI