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  2. LPIN3 - lipin 3 Gene

LPIN3 - lipin 3 Gene

中文名称:立平 3

种属: Homo sapiens

同用名: SMP2; LIPN3L; dJ620E11.2

基因 ID: 64900 | 基因类型: protein coding

关于 LPIN3

Cytogenetic location: 20q12 Genomic coordinates (GRCh38): 20:41,340,821-41,360,582 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in duodenum (RPKM 19.3), skin (RPKM 16.1) and 23 other tissues.

功能概要

该基因编码的蛋白质是 lipin 蛋白质家族的成员,所有家族成员在其 C 末端区域都具有很强的同源性。这种蛋白质被认为与其他 lipin 家族成员形成异源寡聚体,而一个家族成员 lipin 1 也可以形成同源寡聚体。该蛋白质包含磷脂磷酸酶 1 (PAP1) 活性的保守基序以及与转录共激活因子相互作用的结构域。脂蛋白复合物在细胞质中起作用以催化磷脂酸的去磷酸化以产生二酰基甘油,其是甘油三酯和磷脂的前体。脂蛋白复合物也被认为作为细胞核中的转录共激活因子调节基因表达。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 9 月]

The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with Other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate Phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and Phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

LPIN3 基因产物(2)

mRNA Protein Name
NM_001301860.2 NP_001288789.1 phosphatidate phosphatase LPIN3 isoform 1
NM_022896.3 NP_075047.1 phosphatidate phosphatase LPIN3 isoform 2

LPIN3 蛋白结构

Lipin_N

Lipin_N: lipin, N-terminal conserved region (1 - 111)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (640 - 796)

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  • 851 a.a.
蛋白主名 其他名称

phosphatidate phosphatase LPIN3

关联疾病

疾病名称 别名
Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Peroneal Neuropathy

Peroneal Neuropathies

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

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 LPIN3 MGD MGI:1891342
Rattus norvegicus LPIN3 RGD RGD:1588534
Bos taurus LPIN3 VGNC VGNC:30968
Macaca mulatta LPIN3 VGNC VGNC:74289
Felis catus LPIN3 VGNC VGNC:63270
Canis familiaris LPIN3 VGNC VGNC:42753