ANKRD17 - ankyrin repeat domain 17 Gene

Homo sapiens

Also known as CAGS; GTAR; MASK2; NY-BR-16

Gene ID: 26057 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	19150984	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19150984	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in defense response to bacterium	IDA IDA: Inferred from direct assay	23711367	GOA
involved in innate immune response	IDA IDA: Inferred from direct assay	23711367	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	19150984	GOA
involved in positive regulation of MDA-5 signaling pathway	IDA IDA: Inferred from direct assay	22328336	GOA
involved in positive regulation of RIG-I signaling pathway	IDA IDA: Inferred from direct assay	22328336	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	22328336	GOA
involved in positive regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	19150984	GOA
involved in regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	19150984	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	19150984	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22328336	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19150984	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKRD17 Protein Structure

Ank_2

Ank_4

Ank_2

Ank

Ank_2

KH_1

0
400
800
1200
1600
2000
2400
2603 a.a.

Protein Preferred Names

Protein Names

ankyrin repeat domain-containing protein 17

gene trap ankyrin repeat protein

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00716	ANKRD17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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