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    WDR17 WD repeat domain 17 [ Homo sapiens (human) ]

    Gene ID: 116966, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR17provided by HGNC
    Official Full Name
    WD repeat domain 17provided by HGNC
    Primary source
    HGNC:HGNC:16661
    See related
    Ensembl:ENSG00000150627 MIM:609005; AllianceGenome:HGNC:16661
    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
    Summary
    This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]
    Expression
    Biased expression in brain (RPKM 5.2), thyroid (RPKM 2.5) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR17 in Genome Data Viewer
    Location:
    4q34.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (176065841..176182815)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (179404292..179521189)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (176986992..177103966)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glycoprotein M6A Neighboring gene uncharacterized LOC107984113 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:176826984-176827544 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:176896223-176896404 Neighboring gene MARK2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15814 Neighboring gene uncharacterized LOC124900182 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:177077413-177078612 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76272 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76278 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76283 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76286 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76293 Neighboring gene spermatogenesis associated 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76294 Neighboring gene ankyrin repeat and SOCS box containing 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma. Simpson HM, et al. PLoS One, 2015. PMID 26536348, Free PMC Article
    2. Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34. Stöhr H, et al. Biochim Biophys Acta, 2002 Nov 13. PMID 12401215
    3. Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice. Geisert EE, et al. Mol Vis, 2009 Aug 31. PMID 19727342, Free PMC Article
    4. Mapping of transcription start sites of human retina expressed genes. Roni V, et al. BMC Genomics, 2007 Feb 7. PMID 17286855, Free PMC Article
    5. METTL3 protects METTL14 from STUB1-mediated degradation to maintain m(6) A homeostasis. Zeng ZC, et al. EMBO Rep, 2023 Mar 6. PMID 36597993, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Strong candidate gene for retinitis pigmentosa, RP29 (human 4q32-q34). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database.
      Title: Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.
    3. cloning and characterization of gene which represents a new member of the WD repeat family abundant in retina and testis
      Title: Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26618

    General protein information

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    Preferred Names
    WD repeat-containing protein 17
    Names
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    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_001350727.2 → NP_001337656.1  WD repeat-containing protein 17 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, uses a downstream start codon and contains multiple coding region differences, compared to variant 1. It encodes isoform 3, which is shorter, compared to isoform 1.
      Source sequence(s)
      AC093605, AF492460, BC146812, BM875452, BX648508
      UniProtKB/TrEMBL
      A0A384NL16
      Conserved Domains (3) summary
      COG2319
      Location:20 → 444
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:391 → 681
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:357 → 391
      7WD40; WD40 repeat [structural motif]

    2. NM_001378103.1 → NP_001365032.1  WD repeat-containing protein 17 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC093605
      UniProtKB/TrEMBL
      A0A384NL16
      Related
      ENSP00000422200.2, ENST00000507824.6
      Conserved Domains (3) summary
      COG2319
      Location:44 → 444
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:391 → 681
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:357 → 391
      7WD40; WD40 repeat [structural motif]

    3. NM_001378104.1 → NP_001365033.1  WD repeat-containing protein 17 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC093605
      UniProtKB/TrEMBL
      A0A384NL16
      Conserved Domains (3) summary
      COG2319
      Location:20 → 420
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:367 → 657
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:333 → 367
      7WD40; WD40 repeat [structural motif]

    4. NM_001378105.1 → NP_001365034.1  WD repeat-containing protein 17 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC093605
      UniProtKB/TrEMBL
      A0A384NL16
      Conserved Domains (3) summary
      COG2319
      Location:20 → 420
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:339 → 602
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:333 → 367
      7WD40; WD40 repeat [structural motif]

    5. NM_001378106.1 → NP_001365035.1  WD repeat-containing protein 17 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC093605
      UniProtKB/TrEMBL
      A0A384NL16
      Conserved Domains (3) summary
      COG2319
      Location:20 → 420
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:339 → 602
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:333 → 367
      7WD40; WD40 repeat [structural motif]

    6. NM_170710.5 → NP_733828.2  WD repeat-containing protein 17 isoform 1

      See identical proteins and their annotated locations for NP_733828.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC093605, AF492460, DB443937
      Consensus CDS
      CCDS3825.1
      UniProtKB/Swiss-Prot
      E7EQX0, Q0QD35, Q8IZU2
      UniProtKB/TrEMBL
      A0A384NL16
      Related
      ENSP00000280190.4, ENST00000280190.8
      Conserved Domains (4) summary
      COG2319
      Location:169 → 640
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:391 → 681
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:357 → 391
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:74 → 298
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    7. NM_181265.4 → NP_851782.3  WD repeat-containing protein 17 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a portion of the 5' coding region, uses a downstream start codon, and lacks an in-frame segment of the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC093605, BC146812
      Consensus CDS
      CCDS43284.2
      UniProtKB/TrEMBL
      A0A384NL16
      Related
      ENSP00000422763.1, ENST00000508596.6
      Conserved Domains (4) summary
      COG2319
      Location:145 → 616
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:367 → 657
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:333 → 367
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:14 → 274
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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
      176065841..176182815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449569.1 → XP_047305525.1  WD repeat-containing protein 17 isoform X2

      UniProtKB/TrEMBL
      A0A384NL16

    2. XM_047449570.1 → XP_047305526.1  WD repeat-containing protein 17 isoform X4

      UniProtKB/TrEMBL
      A0A384NL16

    3. XM_017007694.2 → XP_016863183.1  WD repeat-containing protein 17 isoform X5

      UniProtKB/TrEMBL
      A0A384NL16

    4. XM_017007690.3 → XP_016863179.1  WD repeat-containing protein 17 isoform X3

      UniProtKB/TrEMBL
      A0A384NL16

    5. XM_024453885.2 → XP_024309653.1  WD repeat-containing protein 17 isoform X1

      UniProtKB/TrEMBL
      A0A384NL16
      Conserved Domains (3) summary
      COG2319
      Location:44 → 468
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:415 → 705
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:381 → 415
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      179404292..179521189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348854.1 → XP_054204829.1  WD repeat-containing protein 17 isoform X2

      UniProtKB/TrEMBL
      A0A384NL16

    2. XM_054348856.1 → XP_054204831.1  WD repeat-containing protein 17 isoform X4

      UniProtKB/TrEMBL
      A0A384NL16

    3. XM_054348857.1 → XP_054204832.1  WD repeat-containing protein 17 isoform X5

      UniProtKB/TrEMBL
      A0A384NL16

    4. XM_054348855.1 → XP_054204830.1  WD repeat-containing protein 17 isoform X3

      UniProtKB/TrEMBL
      A0A384NL16

    5. XM_054348853.1 → XP_054204828.1  WD repeat-containing protein 17 isoform X1

      UniProtKB/TrEMBL
      A0A384NL16
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZU2.2 GenPept UniProtKB/Swiss-Prot:Q8IZU2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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