2. Gene
  3. PLCZ1 - phospholipase C zeta 1 Gene

PLCZ1 - phospholipase C zeta 1 Gene

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

中文名称：磷脂酶 Czeta 1

种属: Homo sapiens

同用名: SPGF17; PLCzeta; NYD-SP27; PLC-zeta-1

基因 ID: 89869 | 基因类型: protein coding

关于 PLCZ1

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:18,645,609-18,738,012 (from NCBI)

This gene has 20 transcripts (splice variants), 203 orthologues, 14 paralogues and is associated with 1 phenotype. Restricted expression toward testis (RPKM 5.9).

功能概要

该基因编码的蛋白质是磷酸肌醇特异性磷脂酶 C 家族的成员。该家族的成员分为组织和器官特异性的六种同种型，它们在磷酸基团之前水解磷脂酰肌醇 4,5-二磷酸，产生甘油二酯和肌醇 1,4,5-三磷酸。这种蛋白质定位于精子的顶体，并在受精过程中引起 CA (2+) 振荡和卵子激活，从而导致早期胚胎发育。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 8 月]

The protein encoded by this gene is a member of the phosphoinositide-specific Phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits CA(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

PLCZ1 基因产物(3)

mRNA Protein Name
NM_001330769.1 NP_001317698.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 3
NM_001330774.2 NP_001317703.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 2
NM_033123.4 NP_149114.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 1

PLCZ1 蛋白结构

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (72 - 154)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (157 - 300)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (349 - 465)

C2

C2: C2 domain (484 - 571)

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  • 608 a.a.
蛋白主名 其他名称

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1

PI-phospholipase C zeta 1

关联疾病

疾病名称 别名
Spermatogenic Failure 17

SPGF17

Male Infertility Due To Oocyte Activation Failure
Spermatogenic Failure 9

Male Infertility Due To Globozoospermia

SPGF9

Male Infertility Due To Round-Headed Spermatozoa

Globozoospermia, Complete

Globozoospermia, Total

Globozoospermia

Globozoospermia Syndrome

Round-Headed Sperm Syndrome

Globozoospermia Complete

Globozoospermia Total
Infertility
Varicocele

Scrotal Varices

Varicoceles

Varicocele Of Scrotum

Scrotal Varicocele
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Oligoasthenoteratozoospermia

Oat

Oligoasthenoteratospermia
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
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-RS10669 PLCZ1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PLCZ1 RGD RGD:1359567
Macaca mulatta PLCZ1 VGNC VGNC:76070
Felis catus PLCZ1 VGNC VGNC:64212
Canis familiaris PLCZ1 VGNC VGNC:44659
Mus musculus PLCZ1 MGD MGI:2150308
Bos taurus PLCZ1 VGNC VGNC:32995
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