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

NCEH1 - neutral cholesterol ester hydrolase 1 Gene

中文名称:中性胆固醇酯水解酶 1

种属: Homo sapiens

同用名: NCEH; AADACL1

基因 ID: 57552 | 基因类型: protein coding

关于 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.

功能概要

预测启用水解酶活性。预计参与醚脂代谢过程。预计作用于 SMAD 蛋白信号转导的上游或内部;蛋白质去磷酸化;和外源代谢过程。位于膜内。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

neutral cholesterol ester hydrolase 1

2-acetyl MAGE hydrolase

关联疾病

疾病名称 别名
Niemann-Pick Disease, Type C2

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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