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  3. LIPI - lipase I Gene

LIPI - lipase I Gene

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

中文名称：脂肪酶Ⅰ

种属: Homo sapiens

同用名: CT17; LPDL; PLA1C; PRED5; mPA-PLA1 beta

基因 ID: 149998 | 基因类型: protein coding

关于 LIPI

Cytogenetic location: 21q11.2 Genomic coordinates (GRCh38): 21:14,108,812-14,210,955 (from NCBI)

This gene has 8 transcripts (splice variants), 286 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in thyroid (RPKM 1.4), endometrium (RPKM 0.3) and 2 other tissues.

功能概要

该基因编码的蛋白质是一种磷脂酶，可水解磷脂酸产生溶血磷脂酸。该基因的缺陷是易患家族性高甘油三酯血症的原因。该基因也在尤文家族肿瘤细胞中高水平表达。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 12 月]

The protein encoded by this gene is a Phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

LIPI 基因产物(7)

mRNA Protein Name
NM_001302998.2 NP_001289927.1 lipase member I isoform 1 precursor
NM_001302999.2 NP_001289928.1 lipase member I isoform 2
NM_001303000.2 NP_001289929.1 lipase member I isoform 3 precursor
NM_001303001.2 NP_001289930.1 lipase member I isoform 4
NM_001379565.1 NP_001366494.1 lipase member I isoform 6
NM_001379566.1 NP_001366495.1 lipase member I isoform 7 precursor
NM_198996.4 NP_945347.3 lipase member I isoform 5
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
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

LIPI 蛋白结构

Lipase

Lipase: Lipase (61 - 334)

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

lipase member I

LPD lipase

关联疾病

疾病名称 别名
Hypertriglyceridemia 1

Hypertriglyceridemia

Hypertriglyceridemia, Familial

Hypertriglyceridemia, Susceptibility To

HYTG1

FHTR

Hypertriglyceridemias Familial
Posterior Cerebral Artery Infarction

Infarction, Posterior Cerebral Artery
Diffuse Pulmonary Fibrosis
Developmental And Epileptic Encephalopathy 53

DEE53

Epileptic Encephalopathy, Early Infantile, 53

Eiee53

Developmental And Epileptic Encephalopathy, 53

Early Infantile Epileptic Encephalopathy 53
Ciliary Dyskinesia, Primary, 26

Primary Ciliary Dyskinesia 26

CILD26

Primary Ciliary Dyskinesia 26 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 26, With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, 26
Ewing Sarcoma Of Bone

Ewing'S Sarcoma Of Bone

Bone Ewing Sarcoma

Bone Ewing'S Sarcoma

Bone Localized Ewing Sarcoma

Bone Localized Ewing'S Sarcoma

Ewing'S Sarcoma/Bone Peripheral Primitive Neuroectodermal Tumor

Localized Skeletal Ewing'S Sarcoma

Localized Bone Ewing Sarcoma
Intellectual Developmental Disorder, Autosomal Dominant 7

MRD7

Mental Retardation, Autosomal Dominant 7

Autosomal Dominant Non-Syndromic Intellectual Disability 7

Dyrk1a Syndrome

Autosomal Dominant Intellectual Developmental Disorder 7

Autosomal Dominant Mental Retardation 7

Mental Retardation, Autosomal Dominant, Type 7
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07691 LIPI Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18483 Lipi Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24965 Lipi Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris LIPI VGNC VGNC:42698
Rattus norvegicus LIPI RGD RGD:1310162
Felis catus LIPI VGNC VGNC:63240
Mus musculus LIPI MGD MGI:2443868
Others LIPI NCBI
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