ANKRD17 - ankyrin repeat domain 17 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26057

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 References 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 References 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 References 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_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
  • 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

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 Set / 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
Others ANKRD17 NCBI