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

    Gene ID: 26057, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:23575
    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
    CAGS; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKRD17 in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73073376..73258798, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (76416991..76602444, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (73939093..74124515, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:73934752-73935267 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:73935268-73935784 Neighboring gene uncharacterized LOC112268467 Neighboring gene cytochrome c oxidase assembly factor COX18 Neighboring gene uncharacterized LOC124900713 Neighboring gene high mobility group AT-hook 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74121667-74122167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15476 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:74124568-74125164 Neighboring gene small nucleolar RNA SNORA3/SNORA45 family Neighboring gene ANKRD17 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:74191462-74192661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74204803-74205304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74205305-74205804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:74209023-74209524 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:74235125-74235832 Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene albumin

    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

    Associated conditions

    Description Tests
    Chopra-Amiel-Gordon syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-04-11)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-04-11)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Clone Names

    • FLJ22206, KIAA0697

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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/TrEMBL
      H0YM23
      Related
      ENSP00000427151.2, ENST00000509867.6
      Conserved Domains (9) summary
      PHA03095
      Location:9841290
      PHA03095; ankyrin-like protein; Provisional
      PHA03247
      Location:19122344
      PHA03247; large tegument protein UL36; Provisional
      sd00045
      Location:322351
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:12071260
      Ank_4; Ankyrin repeats (many copies)
      pfam03154
      Location:20112221
      Atrophin-1; Atrophin-1 family
      pfam03938
      Location:681780
      OmpH; Outer membrane protein (OmpH-like)
      pfam12796
      Location:455546
      Ank_2; Ankyrin repeats (3 copies)
      cd22502
      Location:16131683
      KH-I_ANKRD17; type I K homology (KH) RNA-binding domain found in ankyrin repeat domain-containing protein 17 (ANKRD17) and similar proteins
      cl39094
      Location:9621000
      Ank_2; Ankyrin repeats (3 copies)
    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/TrEMBL
      H0YM23
      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
      E7EUV3, G5E964, O75179, Q6PJ85, Q6PK85, Q6PKA2, Q86XI3, Q8NDR5, Q96I86, Q9H288, Q9H6J9
      UniProtKB/TrEMBL
      H0YM23
      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/TrEMBL
      H0YM23
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      73073376..73258798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265671.5XP_005265728.1  ankyrin repeat domain-containing protein 17 isoform X6

      UniProtKB/TrEMBL
      H0YM23
      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_047450038.1XP_047305994.1  ankyrin repeat domain-containing protein 17 isoform X1

    3. XM_047450039.1XP_047305995.1  ankyrin repeat domain-containing protein 17 isoform X3

    4. XM_017008013.2XP_016863502.1  ankyrin repeat domain-containing protein 17 isoform X8

      UniProtKB/TrEMBL
      H0YM23
    5. XM_017008012.2XP_016863501.1  ankyrin repeat domain-containing protein 17 isoform X7

      UniProtKB/TrEMBL
      H0YM23
    6. XM_017008011.2XP_016863500.1  ankyrin repeat domain-containing protein 17 isoform X2

      UniProtKB/TrEMBL
      H0YM23
    7. XM_047450041.1XP_047305997.1  ankyrin repeat domain-containing protein 17 isoform X5

    8. XM_047450040.1XP_047305996.1  ankyrin repeat domain-containing protein 17 isoform X4

    9. XM_047450046.1XP_047306002.1  ankyrin repeat domain-containing protein 17 isoform X17

    10. XM_047450045.1XP_047306001.1  ankyrin repeat domain-containing protein 17 isoform X16

    11. XM_047450042.1XP_047305998.1  ankyrin repeat domain-containing protein 17 isoform X10

    12. XM_005265672.5XP_005265729.1  ankyrin repeat domain-containing protein 17 isoform X9

      UniProtKB/TrEMBL
      B4DTP3
      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]
    13. XM_047450043.1XP_047305999.1  ankyrin repeat domain-containing protein 17 isoform X13

    14. XM_047450047.1XP_047306003.1  ankyrin repeat domain-containing protein 17 isoform X19

    15. XM_017008016.3XP_016863505.1  ankyrin repeat domain-containing protein 17 isoform X18

    16. XM_017008014.3XP_016863503.1  ankyrin repeat domain-containing protein 17 isoform X12

      UniProtKB/TrEMBL
      B4DTP3
    17. XM_005265673.5XP_005265730.1  ankyrin repeat domain-containing protein 17 isoform X11

      UniProtKB/TrEMBL
      B4DTP3
      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]
    18. XM_047450048.1XP_047306004.1  ankyrin repeat domain-containing protein 17 isoform X21

    19. XM_017008017.2XP_016863506.1  ankyrin repeat domain-containing protein 17 isoform X20

    20. XM_047450044.1XP_047306000.1  ankyrin repeat domain-containing protein 17 isoform X15

    21. XM_017008015.2XP_016863504.1  ankyrin repeat domain-containing protein 17 isoform X14

      UniProtKB/TrEMBL
      B4DTP3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      76416991..76602444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349636.1XP_054205611.1  ankyrin repeat domain-containing protein 17 isoform X6

    2. XM_054349631.1XP_054205606.1  ankyrin repeat domain-containing protein 17 isoform X1

    3. XM_054349633.1XP_054205608.1  ankyrin repeat domain-containing protein 17 isoform X3

    4. XM_054349638.1XP_054205613.1  ankyrin repeat domain-containing protein 17 isoform X8

    5. XM_054349637.1XP_054205612.1  ankyrin repeat domain-containing protein 17 isoform X7

    6. XM_054349632.1XP_054205607.1  ankyrin repeat domain-containing protein 17 isoform X2

    7. XM_054349635.1XP_054205610.1  ankyrin repeat domain-containing protein 17 isoform X5

    8. XM_054349634.1XP_054205609.1  ankyrin repeat domain-containing protein 17 isoform X4

    9. XM_054349647.1XP_054205622.1  ankyrin repeat domain-containing protein 17 isoform X17

    10. XM_054349646.1XP_054205621.1  ankyrin repeat domain-containing protein 17 isoform X16

    11. XM_054349640.1XP_054205615.1  ankyrin repeat domain-containing protein 17 isoform X10

    12. XM_054349639.1XP_054205614.1  ankyrin repeat domain-containing protein 17 isoform X9

    13. XM_054349643.1XP_054205618.1  ankyrin repeat domain-containing protein 17 isoform X13

    14. XM_054349649.1XP_054205624.1  ankyrin repeat domain-containing protein 17 isoform X19

    15. XM_054349648.1XP_054205623.1  ankyrin repeat domain-containing protein 17 isoform X18

    16. XM_054349642.1XP_054205617.1  ankyrin repeat domain-containing protein 17 isoform X12

    17. XM_054349641.1XP_054205616.1  ankyrin repeat domain-containing protein 17 isoform X11

    18. XM_054349651.1XP_054205626.1  ankyrin repeat domain-containing protein 17 isoform X21

    19. XM_054349650.1XP_054205625.1  ankyrin repeat domain-containing protein 17 isoform X20

    20. XM_054349645.1XP_054205620.1  ankyrin repeat domain-containing protein 17 isoform X15

    21. XM_054349644.1XP_054205619.1  ankyrin repeat domain-containing protein 17 isoform X14