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  2. DENND4A - DENN domain containing 4A Gene

DENND4A - DENN domain containing 4A Gene

中文名称:含 DENN 结构域 4A

种属: Homo sapiens

同用名: IRLB; MYCPBP

基因 ID: 10260 | 基因类型: protein coding

关于 DENND4A

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,659,123-65,792,293 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 7.2), lymph node (RPKM 6.2) and 25 other tissues.

功能概要

该基因编码含有 DENN 结构域的蛋白质,该蛋白质可能作为鸟嘌呤核苷酸交换因子发挥作用,可特异性激活 Ras 相关蛋白 Rab-10。该蛋白还含有干扰素刺激反应元件结合域,可能参与调节 v-myc 禽髓细胞瘤病毒 (MYC) 致癌基因。交替剪接导致多个转录本变体。在 8 号染色体上发现了该基因的假基因。[RefSeq 提供,2016 年 3 月]

This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]

DENND4A 基因产物(5)

mRNA Protein Name
NM_001144823.2 NP_001138295.1 C-myc promoter-binding protein isoform 1
NM_001320835.1 NP_001307764.1 C-myc promoter-binding protein isoform 3
NM_001376919.1 NP_001363848.1 C-myc promoter-binding protein isoform 2
NM_001376920.1 NP_001363849.1 C-myc promoter-binding protein isoform 2
NM_005848.4 NP_005839.3 C-myc promoter-binding protein 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 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
15161933 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

DENND4A 蛋白结构

uDENN

uDENN: uDENN domain (212 - 276)

DENN

DENN: DENN (AEX-3) domain (309 - 492)

dDENN

dDENN: dDENN domain (559 - 632)

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  • 1863 a.a.
蛋白主名 其他名称

C-myc promoter-binding protein

DENN domain-containing protein 4A

DENND4A 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
DENND4A Q7Z401 YWHAZ Homo sapiens P63104 15161933
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
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa

Alkuraya-Kucinskas Syndrome

ALKKUCS

Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

Arthrogryposis

Spastic Paraplegia 39, Autosomal Recessive

SPG39

Ntemnd

Hereditary Spastic Paraplegia 39

Nte-Related Motor Neuron Disorder

Autosomal Recessive Spastic Paraplegia Type 39

Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

Spastic Paraplegia Due To Nte Mutation

Spastic Paraplegia 39

Autosomal Recessive Spastic Paraplegia 39

Nte Related Motor Neuron Disorder

Paraplegia, Spastic, Type 39

Folic Acid Deficiency Anemia

Folate Deficiency Anaemia

Folic Acid Deficiency Anaemia

Folate Deficiency Anemia

Folate-Deficiency Anaemia

Folate-Deficiency Anemia

Folate-Deficient Megaloblastic Anaemia

Megaloblastic Anemia Due To Folate Deficiency

Anaemia Of Folate Deficiency

Folate Or Folic Acid Deficiency Anaemia Nos

Folic Acid Deficiency Anaemia Nos

Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency

Dietary Folic Acid Deficiency Anaemia

Dietary Folate Deficiency Anaemia

Folate Deficiency Anaemia Due To Dietary Causes

Goat'S Milk Anaemia

Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement

Megaloblastic Anaemia Due To Increased Requirements Of Folate

Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders

Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

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
Canis familiaris DENND4A VGNC VGNC:39890
Felis catus DENND4A VGNC VGNC:61437
Mus musculus DENND4A MGD MGI:2142979
Bos taurus DENND4A VGNC VGNC:27999
Macaca mulatta DENND4A VGNC VGNC:71697
Rattus norvegicus DENND4A RGD RGD:1562639