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

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

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; 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
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_001350727.2NP_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
    UniProtKB/TrEMBL
    A0A384NL16
    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
    UniProtKB/TrEMBL
    A0A384NL16
    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]
  3. NM_001378104.1NP_001365033.1  WD repeat-containing protein 17 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC093605
    UniProtKB/TrEMBL
    A0A384NL16
    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
    UniProtKB/TrEMBL
    A0A384NL16
    Conserved Domains (3) summary
    COG2319
    Location:20420
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:339602
    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]
  5. NM_001378106.1NP_001365035.1  WD repeat-containing protein 17 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC093605
    UniProtKB/TrEMBL
    A0A384NL16
    Conserved Domains (3) summary
    COG2319
    Location:20420
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:339602
    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]
  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
    E7EQX0, Q0QD35, Q8IZU2
    UniProtKB/TrEMBL
    A0A384NL16
    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/TrEMBL
    A0A384NL16
    Related
    ENSP00000422763.1, ENST00000508596.6
    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: 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_047449569.1XP_047305525.1  WD repeat-containing protein 17 isoform X2

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

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

    UniProtKB/TrEMBL
    A0A384NL16
  4. XM_017007690.3XP_016863179.1  WD repeat-containing protein 17 isoform X3

    UniProtKB/TrEMBL
    A0A384NL16
  5. XM_024453885.2XP_024309653.1  WD repeat-containing protein 17 isoform X1

    UniProtKB/TrEMBL
    A0A384NL16
    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]

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_054348854.1XP_054204829.1  WD repeat-containing protein 17 isoform X2

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

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

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

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