2. Gene
  3. ARL14EP - ADP ribosylation factor like GTPase 14 effector protein Gene

ARL14EP - ADP ribosylation factor like GTPase 14 effector protein Gene

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

中文名称：ADP 核糖基化因子样 GTPase 14 效应蛋白

种属: Homo sapiens

同用名: ARF7EP; C11orf46; dJ299F11.1

基因 ID: 120534 | 基因类型: protein coding

关于 ARL14EP

Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,323,104-30,338,223 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 13.3), adrenal (RPKM 11.0) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种效应蛋白。它与 ADP-核糖基化因子样 14 [ARL14，也称为 ADP-核糖基化因子 7 (ARF7) ]、β-肌动蛋白 (ACTB) 和基于肌动蛋白的运动蛋白肌球蛋白 1E (MYO1E) 相互作用。 ARL14 是一种小型 GTPase；它通过这种效应蛋白连接到肌动蛋白网络，从而控制主要组织相容性 II 类分子的输出。[RefSeq 提供，2014 年 9 月]

The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein Myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]

ARL14EP 基因产物(1)

mRNA Protein Name
NM_152316.3 NP_689529.1 ARL14 effector protein
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
21458045 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

ARL14EP 蛋白结构

ARF7EP_C

ARF7EP_C: ARF7 effector protein C-terminus (145 - 249)

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

ARL14 effector protein

ADP-ribosylation factor-like 14 effector protein

关联疾病

疾病名称 别名
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p
Hallermann-Streiff Syndrome

Francois Dyscephalic Syndrome

HSS

Hallermann'S Syndrome

Oculomandibulofacial Syndrome

Hallerman - Streiff Syndrome

François Dyscephalic Syndrome

Hallermann Streiff Francois Syndrome

Hallermann Streiff Syndrome
Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia
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-RS00982 ARL14EP 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 ARL14EP VGNC VGNC:81905
Bos taurus ARL14EP VGNC VGNC:26140
Macaca mulatta ARL14EP VGNC VGNC:99548
Mus musculus ARL14EP MGD MGI:1926020
Rattus norvegicus ARL14EP RGD RGD:1311463
Canis familiaris ARL14EP VGNC VGNC:38107
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