2. Gene
  3. DENND1A - DENN domain containing 1A Gene

DENND1A - DENN domain containing 1A Gene

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

中文名称：含 DENN 结构域 1A

种属: Homo sapiens

同用名: FAM31A; KIAA1608

基因 ID: 57706 | 基因类型: protein coding

关于 DENND1A

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:123,379,658-123,930,126 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 4.6), kidney (RPKM 4.6) 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 DENND1A，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 DENND1A, 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]

DENND1A 基因产物(10)

mRNA Protein Name
NM_001352964.2 NP_001339893.1 DENN domain-containing protein 1A isoform 3
NM_001352965.2 NP_001339894.1 DENN domain-containing protein 1A isoform 4
NM_001352966.2 NP_001339895.1 DENN domain-containing protein 1A isoform 5
NM_001352967.2 NP_001339896.1 DENN domain-containing protein 1A isoform 6
NM_001352968.2 NP_001339897.1 DENN domain-containing protein 1A isoform 7
NM_001393654.1 NP_001380583.1 DENN domain-containing protein 1A isoform 8
NM_001400446.1 NP_001387375.1 DENN domain-containing protein 1A isoform 9
NM_001400449.1 NP_001387378.1 DENN domain-containing protein 1A isoform 10
NM_020946.2 NP_065997.1 DENN domain-containing protein 1A isoform 1
NM_024820.3 NP_079096.2 DENN domain-containing protein 1A isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endocytosis IMP
IMP: 通过突变表型推断
20937701 GOA
involved in regulation of Rab protein signal transduction IDA
IDA: 通过直接分析推断
20937701 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
20937701 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

DENND1A 蛋白结构

uDENN

uDENN: uDENN domain (30 - 88)

DENN

DENN: DENN (AEX-3) domain (94 - 273)

dDENN

dDENN: dDENN domain (306 - 371)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1009 a.a.
蛋白主名 其他名称

DENN domain-containing protein 1A

DENN/MADD domain containing 1A

重组 DENND1A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71599 DENND1A Protein, Human (His-SUMO) Q8TEH3-2 (M1-H559) ≥95%

关联疾病

疾病名称 别名
Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome

Pcos

Polycystic Ovarian Disease

Polycystic Ovaries

Stein-Leventhal Syndrome

Multicystic Ovaries

Polycystic Ovary

Sclerocystic Ovaries

Sclerocystic Ovary Syndrome

Stein-Leventhal Synd.

Cystic Disease Of Ovaries

Cystic Disease Of Ovary

Pco

Pcod

Sclerocystic Ovarian Degeneration

Polycystic Ovary Syndrome, Susceptibility To

Pcos - [Polycystic Ovary Syndrome]

Polycystic Ovary Nos

Pco - [Polycystic Ovary]
Ovarian Disease

Ovarian Dysfunction

Ovarian Diseases

Ovarian Disorders

Disorder Of Endocrine Ovary
Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders
Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism
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-RS03685 DENND1A Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus DENND1A VGNC VGNC:102917
Mus musculus DENND1A MGD MGI:2442794
Canis familiaris DENND1A VGNC VGNC:39884
Bos taurus DENND1A VGNC VGNC:27993
Rattus norvegicus DENND1A RGD RGD:1307927
Macaca mulatta DENND1A VGNC VGNC:71814
Others DENND1A NCBI
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