1. Gene
  2. ANKRD17 - ankyrin repeat domain 17 Gene

ANKRD17 - ankyrin repeat domain 17 Gene

中文名称:锚蛋白重复结构域 17

种属: Homo sapiens

同用名: CAGS; GTAR; MASK2; NY-BR-16

基因 ID: 26057 | 基因类型: protein coding

关于 ANKRD17

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:73,073,376-73,258,798 (from NCBI)

This gene has 10 transcripts (splice variants), 130 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 8.6), thyroid (RPKM 8.6) and 25 other tissues.

功能概要

该基因编码的蛋白质属于含有锚蛋白重复序列的蛋白质家族,在其氨基末端区域包含两个不同的锚蛋白重复序列,一个具有 15 个锚蛋白重复序列,另一个具有 10 个锚蛋白重复序列。它还包含一个核输出信号、核定位信号和一个结合细胞周期蛋白的 RXL 基序。这种蛋白质在细胞核中的定位已通过实验证明,并且已经观察到这种蛋白质与细胞周期蛋白依赖性激酶 2 之间的相互作用。有人提出,这种蛋白质在 DNA 复制以及抗病毒和抗细菌先天免疫途径中均发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the Other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ANKRD17 基因产物(4)

mRNA Protein Name
NM_001286771.3 NP_001273700.1 ankyrin repeat domain-containing protein 17 isoform c
NM_015574.2 NP_056389.1 ankyrin repeat domain-containing protein 17 isoform d
NM_032217.5 NP_115593.3 ankyrin repeat domain-containing protein 17 isoform a
NM_198889.3 NP_942592.1 ankyrin repeat domain-containing protein 17 isoform b
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 chromatin binding IDA
IDA: 通过直接分析推断
19150984 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19150984 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to bacterium IDA
IDA: 通过直接分析推断
23711367 GOA
involved in innate immune response IDA
IDA: 通过直接分析推断
23711367 GOA
involved in positive regulation of G1/S transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
19150984 GOA
involved in positive regulation of MDA-5 signaling pathway IDA
IDA: 通过直接分析推断
22328336 GOA
involved in positive regulation of RIG-I signaling pathway IDA
IDA: 通过直接分析推断
22328336 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
22328336 GOA
involved in positive regulation of cell cycle IMP
IMP: 通过突变表型推断
19150984 GOA
involved in regulation of DNA replication IMP
IMP: 通过突变表型推断
19150984 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
19150984 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
22328336 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19150984 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

ANKRD17 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (232 - 296)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (301 - 363)

Ank_4

Ank_4: Ankyrin repeats (many copies) (367 - 421)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (438 - 529)

Ank

Ank: Ankyrin repeat (535 - 560)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (568 - 658)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (663 - 719)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1077 - 1144)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1150 - 1212)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1222 - 1313)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1324 - 1408)

KH_1

KH_1: KH domain (1728 - 1789)

  • 0
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  • 2400
  • 2603 a.a.
蛋白主名 其他名称

ankyrin repeat domain-containing protein 17

gene trap ankyrin repeat protein

关联疾病

疾病名称 别名
Chopra-Amiel-Gordon Syndrome

CAGS

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hand, Foot And Mouth Disease

Vesicular Stomatitis And Exanthem

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Bos taurus ANKRD17 VGNC VGNC:50089
Macaca mulatta ANKRD17 VGNC VGNC:84240
Rattus norvegicus ANKRD17 RGD RGD:1562348
Canis familiaris ANKRD17 VGNC VGNC:51766
Mus musculus ANKRD17 MGD MGI:1932101
Felis catus ANKRD17 VGNC VGNC:59802