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

    Gene ID: 26057, updated on 22-Apr-2017
    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; Vega:OTTHUMG00000160826
    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]
    Orthologs
    Location:
    4q13.3
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (73073966..73259142, 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 COX18, cytochrome c oxidase assembly factor Neighboring gene high mobility group AT-hook 1 pseudogene 2 Neighboring gene uncharacterized LOC102724832 Neighboring gene albumin

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22206, KIAA0697

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ankyrin repeat domain-containing protein 17
    Names
    gene trap ankyrin repeat protein
    serologically defined breast cancer antigen NY-BR-16

    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_001286771.2NP_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)
      AB014597, AI016364, BC004173, BM755557, BM971664, BU608983, BX648035, CA310544, DC335632
      Consensus CDS
      CCDS68721.1
      UniProtKB/Swiss-Prot
      O75179
      Related
      ENSP00000427151.2, OTTHUMP00000219061, ENST00000509867.6, OTTHUMT00000362477
      Conserved Domains (10) summary
      TIGR02926
      Location:692768
      AhaH; ATP synthase archaeal, H subunit
      smart00248
      Location:969997
      ANK; ankyrin repeats
      COG0195
      Location:16071654
      NusA; Transcription antitermination factor NusA, contains S1 and KH domains [Transcription]
      COG0666
      Location:9331159
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00105
      Location:16141676
      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: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 ...
      pfam03938
      Location:681780
      OmpH; Outer membrane protein (OmpH-like)
      pfam12796
      Location:192281
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:290341
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:322351
      ANK; ANK repeat [structural motif]
    2. NM_015574.1NP_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)
      AB014597, AF308285, AI016364, AK307581, BM755557, BM971664, CB164101
      UniProtKB/Swiss-Prot
      O75179
      Related
      ENSP00000453434.1, OTTHUMP00000248613, ENST00000558247.5, OTTHUMT00000418945
      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_032217.4NP_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)
      AB014597, AF308285, AI016364, AI680274, AK307581, BC004173, BM755557, BM971664, BX648035, CD690889
      Consensus CDS
      CCDS34004.1
      UniProtKB/Swiss-Prot
      O75179
      Related
      ENSP00000351416.4, OTTHUMP00000219059, ENST00000358602.8, OTTHUMT00000362475
      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_198889.2NP_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)
      AB014597, AF308285, AI016364, AI680274, AK307581, BC004173, BC009043, BM755557, BM971664, CD690889
      Consensus CDS
      CCDS34003.1
      UniProtKB/Swiss-Prot
      O75179
      Related
      ENSP00000332265.6, OTTHUMP00000219060, ENST00000330838.10, OTTHUMT00000362476
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      73073966..73259142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265671.3XP_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_005265672.3XP_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_017008016.1XP_016863505.1  ankyrin repeat domain-containing protein 17 isoform X9

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

    8. XM_005265673.3XP_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

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      73975543..74160328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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