2. Gene
  3. RPH3AL - rabphilin 3A like (without C2 domains) Gene

RPH3AL - rabphilin 3A like (without C2 domains) Gene

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

中文名称：rabphilin 3A 样 (无 C2 结构域)

种属: Homo sapiens

同用名: NOC2

基因 ID: 9501 | 基因类型: protein coding

关于 RPH3AL

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:212,389-352,807 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 102 orthologues and 31 paralogues. Ubiquitous expression in spleen (RPKM 3.5), thyroid (RPKM 2.9) and 24 other tissues.

功能概要

由该基因编码的蛋白质在内分泌和外分泌细胞的钙离子依赖性胞吐作用中起着直接的调节作用，并且在胰腺细胞的胰岛素分泌中起着关键作用。该基因可能是肿瘤抑制因子。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2010 年 6 月]

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in Insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

RPH3AL 基因产物(4)

mRNA Protein Name
NM_001190411.2 NP_001177340.1 rab effector Noc2 isoform 1
NM_001190412.2 NP_001177341.1 rab effector Noc2 isoform 2
NM_001190413.2 NP_001177342.1 rab effector Noc2 isoform 2
NM_006987.4 NP_008918.1 rab effector Noc2 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

RPH3AL 蛋白结构

FYVE_2

FYVE_2: FYVE-type zinc finger (46 - 158)

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

rab effector Noc2

no C2 domains protein

RPH3AL 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RPH3AL Q9UNE2 MID2 Homo sapiens Q9UJV3-2
Y2H Prey Pooling
25416956
种属内
RPH3AL Q9UNE2 RAB27B Homo sapiens O00194
Y2H Prey Pooling
32296183
种属内
RPH3AL Q9UNE2 PNMA3 Homo sapiens Q9UL41
Y2H Prey Pooling
32296183
种属内
RPH3AL Q9UNE2 PNMA3 Homo sapiens Q9UL41
Y2H Array
32296183
种属内
RPH3AL Q9UNE2 ANKRD11 Homo sapiens X5D778
Validated Y2H
32296183
种属内
RPH3AL Q9UNE2 PSME3 Homo sapiens P61289
Y2H Array
32296183
种属内
RPH3AL Q9UNE2 PSME3 Homo sapiens P61289
Y2H Prey Pooling
32296183
种属内
RPH3AL Q9UNE2 HNRNPK Homo sapiens P61978-2
Y2H Prey Pooling
32296183
种属内
RPH3AL Q9UNE2 HNRNPK Homo sapiens P61978-2
Y2H Array
32296183
种属内
RPH3AL Q9UNE2 KHDRBS3 Homo sapiens O75525
Y2H Array
32296183
种属内
RPH3AL Q9UNE2 KHDRBS3 Homo sapiens O75525
Y2H Prey Pooling
32296183
种属内
RPH3AL Q9UNE2 AIRIM Homo sapiens Q9NX04
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2
Opportunistic Bacterial Infectious Disease
Nocardiosis

Nocardia Infection

Nocardia Infections

Nocardia Infectious Disease

Lung Nocardiosis

Nocardiasis

Nocardiosis Nos
Acute Contagious Conjunctivitis

Pink Eye

Contagious Opthalmia

Pinkeye

Conjunctivitis

Keratoconjunctivitis Due To Mycoplasma Conjunctivae
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-RS12158 RPH3AL Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RPH3AL VGNC VGNC:107275
Felis catus RPH3AL VGNC VGNC:99435
Mus musculus RPH3AL MGD MGI:1923492
Rattus norvegicus RPH3AL RGD RGD:620342
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