1. Gene
  2. NCEH1 - neutral cholesterol ester hydrolase 1 Gene

NCEH1 - neutral cholesterol ester hydrolase 1 Gene

Homo sapiens

Also known as NCEH; AADACL1

Gene ID: 57552 | Gene type: protein coding

About NCEH1

Cytogenetic location: 3q26.31 Genomic coordinates (GRCh38): 3:172,630,249-172,711,067 (from NCBI)

This gene has 6 transcripts (splice variants), 279 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues.

Summary

Predicted to enable hydrolase activity. Predicted to be involved in ether lipid metabolic process. Predicted to act upstream of or within SMAD protein signal transduction; protein dephosphorylation; and xenobiotic metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

NCEH1 Products(4)

mRNA Protein Name
NM_001146276.3 NP_001139748.2 neutral cholesterol ester hydrolase 1 isoform a
NM_001146277.3 NP_001139749.1 neutral cholesterol ester hydrolase 1 isoform c
NM_001146278.3 NP_001139750.1 neutral cholesterol ester hydrolase 1 isoform c
NM_020792.6 NP_065843.4 neutral cholesterol ester hydrolase 1 isoform b

NCEH1 Protein Structure

Abhydrolase_3

Abhydrolase_3: alpha/beta hydrolase fold (141 - 302)

Abhydrolase_3

Abhydrolase_3: alpha/beta hydrolase fold (361 - 421)

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  • 448 a.a.
Protein Preferred Names Protein Names

neutral cholesterol ester hydrolase 1

2-acetyl MAGE hydrolase

Related Diseases

Diseases Alias
Niemann-Pick Disease, Type C2

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2

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

Orthologs Information

Species Symbol Source ID
Bos taurus NCEH1 VGNC VGNC:31911
Macaca mulatta NCEH1 VGNC VGNC:81478
Felis catus NCEH1 VGNC VGNC:97522
Rattus norvegicus NCEH1 RGD RGD:1311104
Canis familiaris NCEH1 VGNC VGNC:43649
Mus musculus NCEH1 MGD MGI:2443191