2. Gene
  3. RPH3A - rabphilin 3A Gene

RPH3A - rabphilin 3A Gene

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

中文名称：raphilin 3A

种属: Homo sapiens

基因 ID: 22895 | 基因类型: protein coding

关于 RPH3A

Cytogenetic location: 12q24.13 Genomic coordinates (GRCh38): 12:112,575,236-112,898,881 (from NCBI)

This gene has 27 transcripts (splice variants), 335 orthologues and 31 paralogues. Biased expression in brain (RPKM 30.1) and adrenal (RPKM 1.7).

功能概要

该基因编码的蛋白质被认为是 RAB3A 的效应子，RAB3A 是一种小 G 蛋白，在神经递质胞吐作用的后期起作用。编码的蛋白质可能参与神经递质释放和突触小泡运输。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]

RPH3A 基因产物(6)

mRNA Protein Name
NM_001143854.2 NP_001137326.1 rabphilin-3A isoform 1
NM_001347952.2 NP_001334881.1 rabphilin-3A isoform 1
NM_001347953.1 NP_001334882.1 rabphilin-3A isoform 1
NM_001347954.2 NP_001334883.1 rabphilin-3A isoform 1
NM_001347955.2 NP_001334884.1 rabphilin-3A isoform 3
NM_014954.4 NP_055769.2 rabphilin-3A isoform 2
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
11377421 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

RPH3A 蛋白结构

FYVE_2

FYVE_2: FYVE-type zinc finger (49 - 160)

C2

C2: C2 domain (409 - 497)

C2

C2: C2 domain (567 - 654)

  • 0
  • 200
  • 400
  • 600
  • 694 a.a.
蛋白主名 其他名称

rabphilin-3A

exophilin-1

RPH3A 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
RPH3A Q9Y2J0 CASK Homo sapiens O14936
Pull Down
11377421
种属内
RPH3A Q9Y2J0 CASK Homo sapiens O14936
Y2H
11377421
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
Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf
Central Diabetes Insipidus

Neurogenic Diabetes Insipidus

Diabetes Insipidus Cranial Type

Diabetes Insipidus Neurogenic

Diabetes Insipidus Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Pituitary Diabetes Insipidus

Cdi

Doid:0081055

Diabetes Insipidus

Di - [Diabetes Insipidus]

Adh - [Antidiuretic Hormone Secretion] Deficiency

Diabetes Mellitus Insipidus

Familial Diabetes Insipidus

Antidiuretic Hormone Hyposecretion

Vasopressin Deficiency Syndrome

Primary Central Diabetes Insipidus

Vasopressin Deficiency

Vasopressin Hyposecretion

Diabetes Insipidus Secondary To Vasopressin Deficiency
Brain Germinoma

Intracranial Germinoma

Germinoma Of The Brain
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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-RS12157 RPH3A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RPH3A VGNC VGNC:64735
Bos taurus RPH3A VGNC VGNC:34106
Rattus norvegicus RPH3A RGD RGD:620073
Canis familiaris RPH3A VGNC VGNC:45713
Macaca mulatta RPH3A VGNC VGNC:77033
Mus musculus RPH3A MGD MGI:102788
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