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

Gene ID: 116966, updated on 3-Apr-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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Location:
4q34.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (176065841..176182815)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (179404292..179521189)
105.20220307 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

Expression

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  • 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

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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. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article

See all (11) 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)

Genotypes

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_2023_10

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

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

  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

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

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

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

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

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

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