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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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

SHGC-110938 (e-PCR)
- UniSTS:168090

G65596 (e-PCR)
- UniSTS:225530

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)

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]
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]
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]
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]
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]
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 ...
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

176065841..176182815

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047449569.1 → XP_047305525.1 WD repeat-containing protein 17 isoform X2
XM_047449570.1 → XP_047305526.1 WD repeat-containing protein 17 isoform X4
XM_017007694.2 → XP_016863183.1 WD repeat-containing protein 17 isoform X5

UniProtKB/TrEMBL

A0A384NL16
XM_017007690.3 → XP_016863179.1 WD repeat-containing protein 17 isoform X3

UniProtKB/TrEMBL

A0A384NL16
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]