1. Gene
  2. HMGCLL1 - 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 Gene

HMGCLL1 - 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 Gene

中文名称:3-羟甲基-3-甲基戊二酰辅酶 A 裂解酶 1

种属: Homo sapiens

同用名: ERCHL; er-cHL; bA418P12.1

基因 ID: 54511 | 基因类型: protein coding

关于 HMGCLL1

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:55,434,373-55,678,919 (from NCBI)

This gene has 9 transcripts (splice variants), 198 orthologues and 1 paralogue. Broad expression in brain (RPKM 2.9), adrenal (RPKM 1.2) and 14 other tissues.

功能概要

启用羟甲基戊二酰辅酶 A 裂解酶活性。参与酮体的生物合成过程。位于几种细胞成分中,包括细胞质;内质网;和细胞质的核周区。 [由基因组资源联盟提供,2022 年 4 月]

Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

HMGCLL1 基因产物(5)

mRNA Protein Name
NM_001042406.2 NP_001035865.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform b
NM_001287741.2 NP_001274670.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform c
NM_001287746.2 NP_001274675.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform d
NM_001287753.2 NP_001274682.1 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform e
NM_019036.3 NP_061909.2 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic isoform a

HMGCLL1 蛋白结构

HMGL-like

HMGL-like: HMGL-like (86 - 333)

  • 0
  • 100
  • 200
  • 300
  • 370 a.a.
蛋白主名 其他名称

3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic

3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1

关联疾病

疾病名称 别名
Alcoholic Ketoacidosis
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 HMGCLL1 VGNC VGNC:29878
Rattus norvegicus HMGCLL1 RGD RGD:1565090
Canis familiaris HMGCLL1 VGNC VGNC:41713
Mus musculus HMGCLL1 MGD MGI:2446108
Macaca mulatta HMGCLL1 VGNC VGNC:73429
Felis catus HMGCLL1 VGNC VGNC:102440