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

Gene ID: 116966, updated on 2-Mar-2021

Summary

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
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
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Genomic context

See WDR17 in Genome Data Viewer
Location:
4q34.2
Exon count:
33
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (176065841..176182824)
105.20201022 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 microtubule affinity regulating kinase 2 pseudogene 4 Neighboring gene spermatogenesis associated 4 Neighboring gene ankyrin repeat and SOCS box containing 5

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?

General gene information

Markers

Homology

Clone Names

  • FLJ26618

General protein information

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

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_001350727.2NP_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
    Conserved Domains (3) summary
    COG2319
    Location:20444
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:391681
    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:357391
    7WD40; WD40 repeat [structural motif]
  2. NM_001378103.1NP_001365032.1  WD repeat-containing protein 17 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC093605
    Conserved Domains (3) summary
    COG2319
    Location:44444
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:391681
    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:357391
    7WD40; WD40 repeat [structural motif]
  3. NM_001378104.1NP_001365033.1  WD repeat-containing protein 17 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC093605
    Conserved Domains (3) summary
    COG2319
    Location:20420
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:367657
    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:333367
    7WD40; WD40 repeat [structural motif]
  4. NM_001378105.1NP_001365034.1  WD repeat-containing protein 17 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC093605
  5. NM_001378106.1NP_001365035.1  WD repeat-containing protein 17 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC093605
  6. NM_170710.5NP_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
    Q8IZU2
    Related
    ENSP00000280190.4, ENST00000280190.8
    Conserved Domains (4) summary
    COG2319
    Location:169640
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:391681
    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:357391
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:74298
    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_181265.4NP_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/Swiss-Prot
    Q8IZU2
    Related
    ENSP00000422763.1, ENST00000508596.5
    Conserved Domains (4) summary
    COG2319
    Location:145616
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:367657
    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:333367
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:14274
    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: Homo sapiens Updated Annotation Release 109.20210226

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
    176065841..176182824
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007692.2XP_016863181.1  WD repeat-containing protein 17 isoform X7

  2. XM_017007690.2XP_016863179.1  WD repeat-containing protein 17 isoform X4

  3. XM_024453886.1XP_024309654.1  WD repeat-containing protein 17 isoform X11

    Conserved Domains (3) summary
    cd00200
    Location:293583
    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:259293
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:53324
    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 ...
  4. XM_017007694.1XP_016863183.1  WD repeat-containing protein 17 isoform X8

  5. XM_017007697.1XP_016863186.1  WD repeat-containing protein 17 isoform X12

  6. XM_024453885.1XP_024309653.1  WD repeat-containing protein 17 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:44468
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:415705
    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:381415
    7WD40; WD40 repeat [structural motif]
  7. XM_017007686.2XP_016863175.1  WD repeat-containing protein 17 isoform X2

    Related
    ENSP00000422200.2, ENST00000507824.6
    Conserved Domains (3) summary
    COG2319
    Location:44444
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:391681
    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:357391
    7WD40; WD40 repeat [structural motif]
  8. XM_017007689.1XP_016863178.1  WD repeat-containing protein 17 isoform X3

    Conserved Domains (4) summary
    COG2319
    Location:169640
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:391681
    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:357391
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:38298
    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 ...
  9. XM_017007693.1XP_016863182.1  WD repeat-containing protein 17 isoform X8

  10. XM_017007691.1XP_016863180.1  WD repeat-containing protein 17 isoform X6

RNA

  1. XR_001741103.1 RNA Sequence

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