1. Gene
  2. LIPJ - lipase family member J Gene

LIPJ - lipase family member J Gene

中文名称:脂肪酶家族成员 J

种属: Homo sapiens

同用名: LIPL1; bA425M17.2

基因 ID: 142910 | 基因类型: protein coding

关于 LIPJ

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:88,582,907-88,623,184 (from NCBI)

This gene has 3 transcripts (splice variants), 114 orthologues and 5 paralogues. Broad expression in testis (RPKM 1.7), thyroid (RPKM 0.3) and 20 other tissues.

功能概要

预计可启用水解酶活性,作用于酯键。预计参与脂质分解代谢过程。预计在细胞内膜结合的细胞器中具有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable hydrolase activity, acting on ester bonds. Predicted to be involved in lipid catabolic process. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]

LIPJ 基因产物(2)

mRNA Protein Name
NM_001010939.3 NP_001010939.2 lipase member J isoform 1
NM_001394640.1 NP_001381569.1 lipase member J isoform 2

LIPJ 蛋白结构

Abhydro_lipase

Abhydro_lipase: Partial alpha/beta-hydrolase lipase region (3 - 65)

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (80 - 351)

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  • 300
  • 366 a.a.
蛋白主名 其他名称

lipase member J

lipase J

关联疾病

疾病名称 别名
Lysosomal And Lipase Deficiency
Cerebrooculofacioskeletal Syndrome 4

COFS4

Cerebro-Oculo-Facio-Skeletal Syndrome 4

Cofs Syndrome

Cerebrooculofacioskeletal Syndrome, Type 4

Mixed Sleep Apnea

Complex Sleep Apnea

Sleep Apnea, Mixed Central And Obstructive

Lysosomal Acid Lipase Deficiency

Wolman Disease

Cholesteryl Ester Storage Disease

Lal Deficiency

Lipa Deficiency

Cholesterol Ester Storage Disease

CESD

Cholesterol Ester Hydrolase Deficiency

Acid Lipase Deficiency

Acid Esterase Deficiency

Familial Xanthomatosis

Wolman Xanthomatosis

Wolman'S Disease

Wolman'S Or Triglyceride Storage Type Iii Disease

Xanthomatosis, Familial

Liposomal Acid Lipase Deficiency, Wolman Type

Familial Visceral Xanthomatosis

Primary Familial Xanthomatosis

Primary Familial Xanthomatosis With Adrenal Calcification

Acid Lipase Disease

WOD

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Fusariosis

Fusarium Infection

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 LIPJ VGNC VGNC:30906
Macaca mulatta LIPJ VGNC VGNC:74333
Canis familiaris LIPJ VGNC VGNC:42699
Felis catus LIPJ VGNC VGNC:63241
Rattus norvegicus LIPJ RGD RGD:2321667