1. Gene
  2. LIPH - lipase H Gene

LIPH - lipase H Gene

中文名称:脂肪酶 H

种属: Homo sapiens

同用名: AH; LAH2; ARWH2; HYPT7; LPDLR; PLA1B; mPA-PLA1

基因 ID: 200879 | 基因类型: protein coding

关于 LIPH

Cytogenetic location: 3q27.2 Genomic coordinates (GRCh38): 3:185,506,262-185,552,588 (from NCBI)

This gene has 5 transcripts (splice variants), 218 orthologues, 9 paralogues and is associated with 3 phenotypes. Biased expression in colon (RPKM 18.6), stomach (RPKM 18.4) and 12 other tissues.

功能概要

该基因编码哺乳动物甘油三酯脂肪酶家族的膜结合成员。它催化 2-酰基溶血磷脂酸 (LPA) 的产生,这是一种脂质介质,具有多种生物学特性,包括血小板聚集、平滑肌收缩以及刺激细胞增殖和运动。[RefSeq 提供,2008 年 7 月]

This gene encodes a membrane-bound member of the mammalian triglyceride Lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]

LIPH 基因产物(1)

mRNA Protein Name
NM_139248.3 NP_640341.1 lipase member H precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables heparin binding IDA
IDA: 通过直接分析推断
12963729 GOA
enables phospholipase activity IDA
IDA: 通过直接分析推断
12963729 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32336749 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid catabolic process IDA
IDA: 通过直接分析推断
12963729 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
12963729 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12963729 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

LIPH 蛋白结构

Lipase

Lipase: Lipase (39 - 326)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 451 a.a.
蛋白主名 其他名称

lipase member H

LPD lipase-related protein

关联疾病

疾病名称 别名
Hypotrichosis 7

Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis

HYPT7

Hypotrichosis, Localized, Autosomal Recessive 2

Lah2

Ah

Total Hypotrichosis, Mari Type

Wh/Ht

Hypotrichosis, Autosomal Recessive

Hypotrichosis, Total, Mari Type

Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis

Total Mari Type Hypotrichosis

Alopecia Universalis Congenita, Mari Type

Mari Type Alopecia Universalis Congenita

Autosomal Recessive Hypotrichosis

Autosomal Recessive Localized Hypotrichosis

Autosomal Recessive Woolly Hair With Or Without Hypotrichosis

Htl

Hypotrichoses

Hypotrichosis

Lah

Alopecia Universalis Congenita Mari Type

Hypotrichosis Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 2

Total Hypotrichosis Mari Type

Woolly Hair Autosomal Recessive 2

ARWH2

Woolly Hair Autosomal Recessive 2 With Or Without Hypotrichosis

Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Hypotrichosis
Woolly Hair, Autosomal Dominant

Autosomal Dominant Woolly Hair

ADWH

Woolly Hair Autosomal Dominant

Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Atrichia With Papular Lesions

Papular Atrichia

APL

Congenital Atrichia

Woolly Hair, Autosomal Recessive 3

ARWH3

Woolly Hair, Autosomal Recessive 3, With Hypotrichosis

Autosomal Recessive Woolly Hair 3

Woolly Hair Autosomal Recessive 3

Hypotrichosis 3

HYPT3

Hypotrichosis Simplex Of The Scalp 2

Htss2

Hypotrichosis, Type 3

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp

Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4

Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Monilethrix

Beaded Hair

MNLIX

Nodose Hair

Moniliform Hair Syndrome

Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia

ECTD4

Ectodermal Dysplasia, Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair/Nail Type

Hned

Hair-Nail Ectodermal Dysplasia

Phned

Ectodermal Dysplasia Pure Hair-Nail Type

Ectodermal Dysplasia, 'Pure' Hair-Nail Type

Dysplasia, Ectodermal, Type 4, Hair/Nail

Hypotrichosis 6

HYPT6

Lah1

Hypotrichosis, Localized, Autosomal Recessive

Monilethrix-Like Hypotrichosis

Hypotrichosis, Localized, Autosomal Recessive 1

Lah

Htl

Autosomal Recessive Localized Hypotrichosis

Hypotrichosis Localized Autosomal Recessive

Hypotrichosis Localized Autosomal Recessive 1

Hypotrichosis, Type 6

Hypotrichosis, Congenital, With Juvenile Macular Dystrophy

HJMD

Congenital Hypotrichosis With Juvenile Macular Dystrophy

Hypotrichosis With Cone-Rod Dystrophy

Hypotrichosis With Juvenile Macular Dystrophy

Juvenile Macular Degeneration And Hypotrichosis

Juvenile Macular Dystrophy And Congenital Hypotrichosis

Hypotrichosis With Juvenile Macular Degeneration

Hypotrichosis Congenital With Juvenile Macular Dystrophy

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly

MARCH

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly

Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome

Hydranencephaly With Renal Aplasia-Dysplasia

March Syndrome

T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

Winged Helix Deficiency

Alymphoid Cystic Thymic Dysgenesis

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome

Pignata Guarino Syndrome

TIDAND

T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy

Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency

Severe Combined Immunodeficiency Due To Foxn1 Deficiency

Foxn1 Deficiency

Nude/Scid

Nude/Severe Combined Immunodeficiency

Scid Due To Foxn1 Deficiency

Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy

Diffuse Alopecia Areata

Diffuse Alopecia

Hypotrichosis 1

HYPT1

Hhs

Hts

Hypotrichosis Simplex

Hypotrichosis Simplex, Generalized, Hereditary

Hereditary Generalized Hypotrichosis Simplex

Generalized Hypothricosis Simplex

Hypotrichosis Simplex Hereditary

Hypotrichosis, Type 1

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
Mus musculus LIPH MGD MGI:2388029
Felis catus LIPH VGNC VGNC:63239
Rattus norvegicus LIPH RGD RGD:1592849
Canis familiaris LIPH VGNC VGNC:42697
Bos taurus LIPH VGNC VGNC:30905
Others LIPH NCBI