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ANKRD17 ankyrin repeat domain 17 [ Homo sapiens (human) ]

Gene ID: 26057, updated on 1-Jun-2020

Summary

Official Symbol
ANKRD17provided by HGNC
Official Full Name
ankyrin repeat domain 17provided by HGNC
Primary source
HGNC:HGNC:23575
See related
Ensembl:ENSG00000132466 MIM:615929
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GTAR; MASK2; NY-BR-16
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]
Expression
Ubiquitous expression in brain (RPKM 8.6), thyroid (RPKM 8.6) and 25 other tissues See more
Orthologs

Genomic context

See ANKRD17 in Genome Data Viewer
Location:
4q13.3
Exon count:
37
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (73073376..73259766, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (73940502..74124858, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 5, pseudogene Neighboring gene uncharacterized LOC112268467 Neighboring gene cytochrome c oxidase assembly factor COX18 Neighboring gene high mobility group AT-hook 1 pseudogene 2 Neighboring gene uncharacterized LOC102724832 Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene albumin Neighboring gene alpha fetoprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ankyrin repeat domain 17 (ANKRD17) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with ankyrin repeat domain 17 (ANKRD17) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22206, KIAA0697

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood vessel maturation IEA
Inferred from Electronic Annotation
more info
 
defense response to bacterium IDA
Inferred from Direct Assay
more info
PubMed 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smooth muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G1/S transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MDA-5 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of RIG-I signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ankyrin repeat domain-containing protein 17
Names
gene trap ankyrin repeat protein
serologically defined breast cancer antigen NY-BR-16

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286771.3NP_001273700.1  ankyrin repeat domain-containing protein 17 isoform c

    See identical proteins and their annotated locations for NP_001273700.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC053527, AC095053, AC105757
    Consensus CDS
    CCDS68721.1
    UniProtKB/Swiss-Prot
    O75179
    Related
    ENSP00000427151.2, ENST00000509867.6
    Conserved Domains (8) summary
    cd00204
    Location:283407
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:322351
    ANK; ANK repeat [structural motif]
    pfam00013
    Location:16141678
    KH_1; KH domain
    pfam03938
    Location:681780
    OmpH; Outer membrane protein (OmpH-like)
    pfam12796
    Location:9561032
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:387441
    Ank_4; Ankyrin repeats (many copies)
    pfam15556
    Location:660864
    Zwint; ZW10 interactor
    cl26464
    Location:19382214
    Atrophin-1; Atrophin-1 family
  2. NM_015574.2NP_056389.1  ankyrin repeat domain-containing protein 17 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region codon compared to variant a. The encoded isoform (d) is one amino acid shorter than isoform a.
    Source sequence(s)
    AC053527, AC095053, AC105757
    UniProtKB/Swiss-Prot
    O75179
    Related
    ENSP00000453434.1, ENST00000558247.5
    Conserved Domains (10) summary
    TIGR02926
    Location:805881
    AhaH; ATP synthase archaeal, H subunit
    smart00248
    Location:10811109
    ANK; ankyrin repeats
    COG0195
    Location:17191766
    NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]
    COG0666
    Location:10451271
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00105
    Location:17261788
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd00204
    Location:396520
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam03938
    Location:794893
    OmpH; Outer membrane protein (OmpH-like)
    pfam12796
    Location:305394
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:403454
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:435464
    ANK; ANK repeat [structural motif]
  3. NM_032217.5NP_115593.3  ankyrin repeat domain-containing protein 17 isoform a

    See identical proteins and their annotated locations for NP_115593.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC053527, AC095053, AC105757
    Consensus CDS
    CCDS34004.1
    UniProtKB/Swiss-Prot
    O75179
    Related
    ENSP00000351416.4, ENST00000358602.9
    Conserved Domains (10) summary
    TIGR02926
    Location:805881
    AhaH; ATP synthase archaeal, H subunit
    smart00248
    Location:10821110
    ANK; ankyrin repeats
    COG0195
    Location:17201767
    NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]
    COG0666
    Location:10461272
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00105
    Location:17271789
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd00204
    Location:396520
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam03938
    Location:794893
    OmpH; Outer membrane protein (OmpH-like)
    pfam12796
    Location:305394
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:403454
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:435464
    ANK; ANK repeat [structural motif]
  4. NM_198889.3NP_942592.1  ankyrin repeat domain-containing protein 17 isoform b

    See identical proteins and their annotated locations for NP_942592.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter than isoform a.
    Source sequence(s)
    AC053527, AC095053, AC105757
    Consensus CDS
    CCDS34003.1
    UniProtKB/Swiss-Prot
    O75179
    Related
    ENSP00000332265.6, ENST00000330838.10
    Conserved Domains (7) summary
    COG0195
    Location:14691516
    NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]
    COG0666
    Location:7951021
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00105
    Location:14761538
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd00204
    Location:396520
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:305394
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:403454
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:435464
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    73073376..73259766 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265671.4XP_005265728.1  ankyrin repeat domain-containing protein 17 isoform X2

    Conserved Domains (7) summary
    COG0195
    Location:14681515
    NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]
    COG0666
    Location:7941020
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00105
    Location:14751537
    KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    cd00204
    Location:396520
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:305394
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:403454
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:435464
    ANK; ANK repeat [structural motif]
  2. XM_017008013.1XP_016863502.1  ankyrin repeat domain-containing protein 17 isoform X4

  3. XM_017008012.1XP_016863501.1  ankyrin repeat domain-containing protein 17 isoform X3

  4. XM_017008011.1XP_016863500.1  ankyrin repeat domain-containing protein 17 isoform X1

  5. XM_005265672.4XP_005265729.1  ankyrin repeat domain-containing protein 17 isoform X5

    Conserved Domains (7) summary
    smart00248
    Location:10821110
    ANK; ankyrin repeats
    COG0666
    Location:10461272
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:396520
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:305394
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:403454
    Ank_4; Ankyrin repeats (many copies)
    pfam14942
    Location:805882
    Muted; Organelle biogenesis, Muted-like protein
    sd00045
    Location:435464
    ANK; ANK repeat [structural motif]
  6. XM_017008016.2XP_016863505.1  ankyrin repeat domain-containing protein 17 isoform X9

  7. XM_017008014.2XP_016863503.1  ankyrin repeat domain-containing protein 17 isoform X7

  8. XM_005265673.4XP_005265730.1  ankyrin repeat domain-containing protein 17 isoform X6

    Conserved Domains (7) summary
    smart00248
    Location:10821110
    ANK; ankyrin repeats
    COG0666
    Location:10461272
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:396520
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:305394
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:403454
    Ank_4; Ankyrin repeats (many copies)
    pfam14942
    Location:805882
    Muted; Organelle biogenesis, Muted-like protein
    sd00045
    Location:435464
    ANK; ANK repeat [structural motif]
  9. XM_017008017.1XP_016863506.1  ankyrin repeat domain-containing protein 17 isoform X10

  10. XM_017008015.1XP_016863504.1  ankyrin repeat domain-containing protein 17 isoform X8

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