2. Gene
  3. PNPLA4 - patatin like phospholipase domain containing 4 Gene

PNPLA4 - patatin like phospholipase domain containing 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 patatin 样磷脂酶结构域 4

种属: Homo sapiens

同用名: GS2; DXS1283E; iPLA2eta

基因 ID: 8228 | 基因类型: protein coding

关于 PNPLA4

Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:7,898,247-7,927,724 (from NCBI)

This gene has 4 transcripts (splice variants), 122 orthologues and 4 paralogues. Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.6) and 25 other tissues.

功能概要

该基因编码 patatin 样磷脂酶家族的成员。编码的酶具有三酰甘油脂肪酶和转酰酶活性，可能参与脂肪细胞甘油三酯稳态。交替剪接导致多个转录本变体。在 Y 染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 2 月]

This gene encodes a member of the patatin-like family of phospholipases. The encoded Enzyme has both triacylglycerol Lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]

PNPLA4 基因产物(3)

mRNA Protein Name
NM_001142389.2 NP_001135861.1 patatin-like phospholipase domain-containing protein 4 isoform 1 precursor
NM_001172672.2 NP_001166143.1 patatin-like phospholipase domain-containing protein 4 isoform 2
NM_004650.3 NP_004641.1 patatin-like phospholipase domain-containing protein 4 isoform 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables acylglycerol O-acyltransferase activity IDA
IDA: 通过直接分析推断
17603008 GOA
enables diolein transacylation activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables mono-olein transacylation activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables phospholipase A2 activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables retinyl-palmitate esterase activity EXP
EXP: 通过实验结果推断
16741517 GOA
enables triacylglycerol lipase activity EXP
EXP: 通过实验结果推断
15364929 GOA
enables triacylglycerol lipase activity IDA
IDA: 通过直接分析推断
15364929 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
26741492 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

PNPLA4 蛋白结构

Patatin

Patatin: Patatin-like phospholipase (6 - 174)

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

patatin-like phospholipase domain-containing protein 4

IPLA2 eta

关联疾病

疾病名称 别名
Cardiomyopathy, Dilated, 1m

Dilated Cardiomyopathy 1m

CMD1M

Cardiomyopathy, Dilated 1m

Cardiomyopathy, Dilated, Type 1m
Cardiomyopathy, Familial Hypertrophic, 7

Hypertrophic Cardiomyopathy 7

CMH7

Cardiomyopathy, Familial Hypertrophic 7

Cardiomyopathy, Hypertrophic, 7

Cardiomyopathy, Hypertrophic, Familial, Type 7
Ichthyosis, X-Linked

X-Linked Ichthyosis

Steroid Sulfatase Deficiency

Placental Steroid Sulfatase Deficiency

Steroid Sulfatase Deficiency Disease

XLI

Sts Deficiency

Ssdd

X-Linked Recessive Ichthyosis

X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

X-Linked Placental Steryl-Sulphatase Deficiency

Ssd

X Linked Ichthyosis

Recessive X-Linked Ichthyosis

Rxli

Syndromic Recessive X-Linked Ichthyosis

Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

Syndromic Rxli

X-Linked Ichthyosis Syndrome

IXL

Ichthyosis X-Linked

Sex-Linked Ichthyosis

X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Cardiomyopathy, Dilated, 1p

Dilated Cardiomyopathy 1p

CMD1P

Cardiomyopathy, Dilated 1p

Cardiomyopathy, Dilated, Type 1p
Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10795 PNPLA4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PNPLA4 RGD RGD:1562200
Macaca mulatta PNPLA4 VGNC VGNC:81507
Felis catus PNPLA4 VGNC VGNC:64265
Bos taurus PNPLA4 VGNC VGNC:33092
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