2. Gene
  3. DENND1B - DENN domain containing 1B Gene

DENND1B - DENN domain containing 1B Gene

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

中文名称：含 DENN 结构域 1B

种属: Homo sapiens

同用名: FAM31B; C1ORF18; C1orf218

基因 ID: 163486 | 基因类型: protein coding

关于 DENND1B

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:197,504,748-197,782,150 (from NCBI)

This gene has 11 transcripts (splice variants), 226 orthologues and 2 paralogues. Ubiquitous expression in colon (RPKM 1.5), thyroid (RPKM 1.4) and 25 other tissues.

功能概要

网格蛋白 (参见 MIM 118955) 介导的内吞作用是蛋白质和脂质内化的主要机制。 connecdenn 家族的成员，例如 DENND1B，充当早期内体小 GTP 酶 RAB35 (MIM 604199) 的鸟嘌呤核苷酸交换因子 (GEF) ，并与网格蛋白和网格蛋白衔接蛋白 2 (AP2；参见 MIM 601024) 结合。因此，connecdenns 将 RAB35 激活与网格蛋白机制联系起来 (Marat 和 McPherson，2010 [PubMed 20154091]) 。[OMIM 提供，2010 年 11 月]

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1B 基因产物(4)

mRNA Protein Name
NM_001195215.2 NP_001182144.1 DENN domain-containing protein 1B isoform 3
NM_001195216.2 NP_001182145.1 DENN domain-containing protein 1B isoform 4
NM_001300858.2 NP_001287787.1 DENN domain-containing protein 1B isoform 5
NM_144977.5 NP_659414.2 DENN domain-containing protein 1B isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
20937701 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell receptor signaling pathway IMP
IMP: 通过突变表型推断
26774822 GOA
involved in positive regulation of T-helper 2 cell cytokine production IMP
IMP: 通过突变表型推断
26774822 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

DENND1B 蛋白结构

uDENN

uDENN: uDENN domain (28 - 87)

DENN

DENN: DENN (AEX-3) domain (94 - 291)

dDENN

dDENN: dDENN domain (324 - 388)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
蛋白主名 其他名称

DENN domain-containing protein 1B

DENN/MADD domain containing 1B

关联疾病

疾病名称 别名
Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus
Childhood-Onset Asthma

Childhood Asthma

Asthma Childhood
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis
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-RS03686 DENND1B 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 DENND1B VGNC VGNC:106709
Macaca mulatta DENND1B VGNC VGNC:99884
Rattus norvegicus DENND1B RGD RGD:1308441
Mus musculus DENND1B MGD MGI:2447812
Canis familiaris DENND1B VGNC VGNC:53340
Felis catus DENND1B VGNC VGNC:107866
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