1. Gene
  2. LMF1 - lipase maturation factor 1 Gene

LMF1 - lipase maturation factor 1 Gene

中文名称:脂肪酶成熟因子 1

种属: Homo sapiens

同用名: JFP11; TMEM112; C16orf26; HMFN1876; TMEM112A

基因 ID: 64788 | 基因类型: protein coding

关于 LMF1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:853,634-981,613 (from NCBI)

This gene has 17 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues.

功能概要

参与甘油三酯代谢过程。预计是膜的组成部分。预测在内质网膜中有活性。与家族性脂肪酶成熟因子 1 缺乏有关。 [由基因组资源联盟提供,2022 年 4 月]

Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial Lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022]

LMF1 基因产物(6)

mRNA Protein Name
NM_001352017.2 NP_001338946.1 lipase maturation factor 1 isoform 2
NM_001352018.2 NP_001338947.1 lipase maturation factor 1 isoform 3
NM_001352019.2 NP_001338948.1 lipase maturation factor 1 isoform 4
NM_001352020.1 NP_001338949.1 lipase maturation factor 1 isoform 5
NM_001352021.2 NP_001338950.1 lipase maturation factor 1 isoform 2
NM_022773.4 NP_073610.2 lipase maturation factor 1 isoform 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in triglyceride metabolic process IMP
IMP: 通过突变表型推断
17994020 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

LMF1 蛋白结构

LMF1

LMF1: Lipase maturation factor (169 - 550)

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  • 567 a.a.
蛋白主名 其他名称

lipase maturation factor 1

transmembrane protein 112

关联疾病

疾病名称 别名
Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency

Lpl And Htgl Deficiency

Lpl And Hl Deficiency

Familial Lipase Maturation Factor 1 Deficiency

Lipase Deficiency Combined

Combined Lipase Deficiency

Familial Lmf1 Deficiency

CLD

Hyperlipoproteinemia, Type I

Lipoprotein Lipase Deficiency

Familial Chylomicronemia Syndrome

Lpl Deficiency

Hyperchylomicronemia, Familial

Hyperlipemia, Idiopathic, Burger-Grutz Type

Hyperlipemia, Essential Familial

Lipase D Deficiency

Lipd Deficiency

Hyperlipoproteinemia, Type Ia

Chylomicronemia, Familial

High Density Lipoprotein Cholesterol Level Qtl 11

Hyperlipoproteinemia Type 1

Hyperlipoproteinemia 1

HLPP1

Lipoprotein Lipase

Hyperlipoproteinemia Type I

Familial Hyperchylomicronemia Syndrome

Pancreatitis

Mumps Pancreatitis

Hyperlipoproteinemia, Type Iv

Hyperlipoproteinemia Type Iv

Carbohydrate-Inducible Hyperlipemia

Endogenous Hyperlipidaemia

Familial Hypertriglyceridemia

Fredrickson Type Iv Hyperlipoproteinemia

Fredrickson Type Iv Lipidaemia

Fredrickson Type Iv Lipidemia

Vldl Hyperlipoproteinemia

Hyperlipoproteinemia Type 4

Carbohydrate Inducible Hyperlipemia

Familial Type Iv Hyperlipoproteinemia

Familial Hyperlipoproteinemia Type Iv

Familial Lipoprotein Lipase Deficiency

Familial Lpl Deficiency

Familial Hyperchylomicronemia

Hyperlipoproteinemia Type I

Familial Hyperlipoproteinemia Type I

Hyperchylomicronemia

Burger-Grutz Syndrome

Endogenous Hypertriglyceridaemia

Familial Fat-Induced Hypertriglyceridemia

Lipd Deficiency

Lpl Deficiency

Lipase D Deficiency

Lipoprotein Lipase Deficiency, Familial

Familial Chylomicronemia Syndrome

Fredrickson Type I Hyperlipoproteinemia

Fredrickson Type I Lipaemia

Hypercholesterinaemic Xanthomatosis

Mixed Hyperglyceridemia

Lipoprotein Lipase Deficiency

Type I Hyperlipoproteinemia

Hyperlipoproteinemia Type Ia

Familial Hyperlipo-Proteinemia Type 1

Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

Familial Apolipoprotein C-Ii Deficiency

Familial Apoc-Ii Deficiency

Familial Apoc2 Deficiency

C-Ii Anapolipoproteinemia

Hyperlipoproteinemia, Type 1b

Hyperlipoproteinemia, Type Ib

Hyperlipoproteinemia Type I

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia

Familial Hypobetalipoproteinemia 1

Familial Hypobetalipoproteinemia

FHBL1

Hypobetalipoproteinemia, Familial

Fhbl

Acanthocytosis With Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Normotriglyceridemic

Hypo-Beta-Lipoproteinemia

Hypobetalipoprotéinemia, Familial

Normotriglyceridemic Hypobetalipoproteinemia

Hypobetalipoproteinemia, Familial, Type 1

Hypoalphalipoproteinemia, Primary, 1

Familial Hdl Deficiency

Fha

High Density Lipoprotein Deficiency

Familial Hypoalphalipoproteinemia

Hypoalphalipoproteinemia, Familial

Hdld

Fhd

Hdl Deficiency, Type 2

Primary Hypoalphalipoproteinemia 1

Hdl Cholesterol, Low Serum

Hdlc

Hdl Deficiency, Familial, 1

Hypoalphalipoproteinemia, Primary

Low Serum Hdl Cholesterol

Primary Hypoalphalipoproteinemia

FHA1

Hdld2

High Density Lipoprotein Deficiency 2

Hypoalphalipoproteinemias

Apolipoprotein A-I Deficiency

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia

Combined Hyperlipidemia, Familial

Mixed Hyperlipidaemia

FCHL3

Hyperlipidemia, Familial Combined

Familial Multiple Lipoprotein-Type Hyperlipidemia

Hyperbetalipoproteinemia With Prebetalipoproteinemia

Type Iib Hyperlipoproteinemia

Hyperlipidemia Familial Combined

Hyperlipoproteinemia Type Iib

Mixed Hyperlipemia

Hyperlipidaemia, Group C

Familial Hypercholesterolaemia With Hyperlipaemia

Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

Hypercholesterolaemia With Endogenous Hyperglyceridaemia

Prebetalipoproteinemia Hyperbetalipoproteinaemia

Remnant Hyperlipoproteinemia

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

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 LMF1 VGNC VGNC:84515
Rattus norvegicus LMF1 RGD RGD:1310180
Macaca mulatta LMF1 VGNC VGNC:84516
Mus musculus LMF1 MGD MGI:1923733
Felis catus LMF1 VGNC VGNC:97481
Canis familiaris LMF1 VGNC VGNC:54038