1. Gene
  2. ARL2BP - ADP ribosylation factor like GTPase 2 binding protein Gene

ARL2BP - ADP ribosylation factor like GTPase 2 binding protein Gene

中文名称:ADP 核糖基化因子样 GTPase 2 结合蛋白

种属: Homo sapiens

同用名: BART; RP66; BART1

基因 ID: 23568 | 基因类型: protein coding

关于 ARL2BP

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:57,245,259-57,253,635 (from NCBI)

This gene has 4 transcripts (splice variants), 228 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 36.7), fat (RPKM 27.6) and 25 other tissues.

功能概要

ADP-核糖基化因子 (ARF) 样蛋白 (ARL) 包含 Ras 相关 GTP 酶的 ARF 家族中功能不同的一组。由该基因编码的蛋白质以高亲和力与 ARL2.GTP 结合,但不与 ARL2.GDP、活化的 ARF 或 RHO 蛋白质相互作用。在激活 ARL2 后,这种蛋白质或 ARL2 缺乏可检测的膜结合,这表明其作用不同于 ARF 的作用。由于该蛋白与 ARL2.GTP 相互作用但缺乏 ARL2 GTP 酶激活蛋白活性,因此被认为是第一个鉴定出的 ARL2 特异性效应物。[RefSeq 提供,2008 年 7 月]

ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]

ARL2BP 基因产物(1)

mRNA Protein Name
NM_012106.4 NP_036238.1 ADP-ribosylation factor-like protein 2-binding protein

ARL2BP 蛋白结构

ARL2_Bind_BART

ARL2_Bind_BART: The ARF-like 2 binding protein BART (20 - 134)

  • 0
  • 100
  • 163 a.a.
蛋白主名 其他名称

ADP-ribosylation factor-like protein 2-binding protein

ADP-ribosylation factor like 2 binding protein

重组 ARL2BP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71660 ARL2BP Protein, Human (GST) Q9Y2Y0-1 (M1-H163) ≥95%
HY-P76156 ARL2BP Protein, Human (His) Q9Y2Y0-1 (M1-H163) ≥95%

关联疾病

疾病名称 别名
Retinitis Pigmentosa 82 With Or Without Situs Inversus

Retinitis Pigmentosa With Or Without Situs Inversus

RP82

Retinitis Pigmentosa, With/Without Situs Inversus

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa 66

RP66

Retinitis Pigmentosa, Type 66

Ciliary Dyskinesia, Primary, 43

CILD43

Primary Ciliary Dyskinesia 43

Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa 74

RP74

Retinitis Pigmentosa, Type 74

Oral Hairy Leukoplakia

Hairy Leukoplakia

Leukoplakia, Hairy

Hairy Leucoplakia

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Nasopharyngeal Carcinoma

Malignant Neoplasm Of Nasopharynx

Npc

Nasopharyngeal Cancer

Nasopharyngeal Carcinoma 1

Nasopharynx Carcinoma

Nasopharyngeal Neoplasms

Npca

Carcinoma Of Nasopharynx

Malignant Nasopharyngeal Tumor

Nasopharynx Cancer

Squamous Cell Carcinoma Of The Nasopharynx

Nasopharyngeal Neoplasm

Cancer Of Nasopharynx

Keratinizing Squamous Cell Carcinoma

Squamous Cell Carcinoma, Keratinizing

Keratinizing Epidermoid Carcinoma

Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease

Bare Lymphocyte Syndrome, Type I

Hla Class I Deficiency

Mhc Class I Deficiency

Bls, Type I

Bare Lymphocyte Syndrome Type I

Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency

Blsi

Mhc Class 1 Deficiency

Major Histocompatibility Complex Class 1 Deficiency

Bare Lymphocyte Syndrome 1

BLS1

Bls I

Bls Type I

Bl-1

Bare Lymphocyte Syndrome Type 1

Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1

Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens

Bls - [Bare Lymphocyte Syndrome] Nos

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ARL2BP VGNC VGNC:104681
Mus musculus ARL2BP MGD MGI:1349429
Bos taurus ARL2BP VGNC VGNC:26142
Rattus norvegicus ARL2BP RGD RGD:1561471
Canis familiaris ARL2BP VGNC VGNC:38110
Others ARL2BP NCBI