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WDR33 WD repeat domain 33 [ Homo sapiens (human) ]

Gene ID: 55339, updated on 11-Apr-2024

Summary

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Official Symbol
WDR33provided by HGNC
Official Full Name
WD repeat domain 33provided by HGNC
Primary source
HGNC:HGNC:25651
See related
Ensembl:ENSG00000136709 MIM:618082; AllianceGenome:HGNC:25651
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
Also known as
NET14; WDC146
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 5.8), lymph node (RPKM 4.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q14.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127701027..127811171, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (128136260..128246425, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128458601..128568745, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene myosin VIIB Neighboring gene uncharacterized LOC101927834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128393428-128394374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128394375-128395321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128395322-128396268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128396269-128397214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128406535-128407262 Neighboring gene Sharpr-MPRA regulatory region 7437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128407989-128408715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128408716-128409441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128416288-128416788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128419363-128420360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128420398-128420938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128420939-128421478 Neighboring gene LIM zinc finger domain containing 2 Neighboring gene G protein-coupled receptor 17 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:128457593-128458792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11936 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:128478937-128480136 Neighboring gene SFT2 domain containing 3 Neighboring gene MPRA-validated peak3854 silencer Neighboring gene MPRA-validated peak3855 silencer Neighboring gene MPRA-validated peak3856 silencer Neighboring gene MPRA-validated peak3857 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128566820-128567727 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128567810-128568750 Neighboring gene uncharacterized LOC124907885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16505 Neighboring gene MPRA-validated peak3858 silencer Neighboring gene RNY4 pseudogene 7 Neighboring gene ZFP91 pseudogene 1

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. Reconstitution of CPSF active in polyadenylation: recognition of the polyadenylation signal by WDR33. Schönemann L, et al. Genes Dev, 2014 Nov 1. PMID 25301781, Free PMC Article
  2. Molecular architecture of the human pre-mRNA 3' processing complex. Shi Y, et al. Mol Cell, 2009 Feb 13. PMID 19217410, Free PMC Article
  3. CPSF30 and Wdr33 directly bind to AAUAAA in mammalian mRNA 3' processing. Chan SL, et al. Genes Dev, 2014 Nov 1. PMID 25301780, Free PMC Article
  4. A novel WD40 repeat protein, WDC146, highly expressed during spermatogenesis in a stage-specific manner. Ito S, et al. Biochem Biophys Res Commun, 2001 Jan 26. PMID 11162572
  5. Structural insights into the assembly and polyA signal recognition mechanism of the human CPSF complex. Clerici M, et al. Elife, 2017 Dec 23. PMID 29274231, Free PMC Article

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Non-canonical isoforms of the mRNA polyadenylation factor WDR33 regulate STING-mediated immune responses.
    Title: Non-canonical isoforms of the mRNA polyadenylation factor WDR33 regulate STING-mediated immune responses.
  2. The authors define the molecular architecture of the core human CPSF complex comprising CPSF160, WDR33, CPSF30 and Fip1 and identify specific domains involved in inter-subunit interactions. Together, these results shed light on the function of CPSF in mediating polyA signal-dependent RNA cleavage and polyadenylation.
    Title: Structural insights into the assembly and polyA signal recognition mechanism of the human CPSF complex.
  3. showed that WDR33 binds in and very close to the AAUAAA signal in vivo with high specificity
    Title: Reconstitution of CPSF active in polyadenylation: recognition of the polyadenylation signal by WDR33.
  4. unexpectedly found that CPSF subunits CPSF30 and Wdr33 directly contact AAUAAA
    Title: CPSF30 and Wdr33 directly bind to AAUAAA in mammalian mRNA 3' processing.
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

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11294

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
Process Evidence Code Pubs
involved_in postreplication repair NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in spermatogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
part_of mRNA cleavage and polyadenylation specificity factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
pre-mRNA 3' end processing protein WDR33
Names
WD repeat-containing protein 33
WD repeat-containing protein WDC146
WD repeat-containing protein of 146 kDa

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_001006622.3 → NP_001006623.1  pre-mRNA 3' end processing protein WDR33 isoform 2

    See identical proteins and their annotated locations for NP_001006623.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shortest transcript. It lacks multiple 3' exons but has an alternate 3' segment, as compared to variant 1. The encoded isoform 2 has a shorter and distinct C-terminus, has only two WD repeats, and lacks the collagen-like and GPR domains, compared to isoform 1.
    Source sequence(s)
    AI039494, AK002156, BC005401, BM673679
    Consensus CDS
    CCDS46407.1
    UniProtKB/Swiss-Prot
    Q9C0J8
    Related
    ENSP00000387186.3, ENST00000409658.7
    Conserved Domains (2) summary
    sd00039
    Location:122 → 158
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:119 → 205
    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 ...

  2. NM_001006623.4 → NP_001006624.1  pre-mRNA 3' end processing protein WDR33 isoform 3

    See identical proteins and their annotated locations for NP_001006624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. It encodes the shortest isoform (3), which has a shorter and distinct C-terminus, as compared to isoform 1, has only two WD repeats, and lacks the collagen-like and GPR domains.
    Source sequence(s)
    BC068484, BU597855
    Consensus CDS
    CCDS42746.1
    UniProtKB/Swiss-Prot
    Q9C0J8
    Related
    ENSP00000376730.1, ENST00000393006.5
    Conserved Domains (3) summary
    COG2319
    Location:104 → 251
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:122 → 159
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:119 → 230
    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 ...

  3. NM_018383.5 → NP_060853.3  pre-mRNA 3' end processing protein WDR33 isoform 1

    See identical proteins and their annotated locations for NP_060853.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1) with eight WD repeats, a collagen-like domain, and a GPR (Gly, Pro and Arg)-rich domain at the N-terminal, central, and C-terminal portion, respectively.
    Source sequence(s)
    AB044749, AC006011, AL834365, BC010283, BQ896760, DA768238
    Consensus CDS
    CCDS2150.1
    UniProtKB/Swiss-Prot
    Q05DP8, Q53FG9, Q587J1, Q69YF7, Q6NUQ0, Q9C0J8, Q9NUL1
    Related
    ENSP00000325377.3, ENST00000322313.9
    Conserved Domains (5) summary
    pfam01391
    Location:730 → 791
    Collagen; Collagen triple helix repeat (20 copies)
    COG2319
    Location:121 → 405
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:121 → 402
    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 ...
    pfam09606
    Location:594 → 989
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    sd00039
    Location:122 → 159
    7WD40; WD40 repeat [structural motif]

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    127701027..127811171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263697.4 → XP_005263754.1  pre-mRNA 3' end processing protein WDR33 isoform X2

    Conserved Domains (4) summary
    pfam01391
    Location:730 → 791
    Collagen; Collagen triple helix repeat (20 copies)
    COG2319
    Location:121 → 405
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:121 → 402
    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:122 → 159
    7WD40; WD40 repeat [structural motif]

  2. XM_011511436.2 → XP_011509738.1  pre-mRNA 3' end processing protein WDR33 isoform X1

    See identical proteins and their annotated locations for XP_011509738.1

    UniProtKB/Swiss-Prot
    Q05DP8, Q53FG9, Q587J1, Q69YF7, Q6NUQ0, Q9C0J8, Q9NUL1
    Conserved Domains (5) summary
    pfam01391
    Location:730 → 791
    Collagen; Collagen triple helix repeat (20 copies)
    COG2319
    Location:121 → 405
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:121 → 402
    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 ...
    pfam09606
    Location:594 → 989
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    sd00039
    Location:122 → 159
    7WD40; WD40 repeat [structural motif]

  3. XM_017004436.3 → XP_016859925.1  pre-mRNA 3' end processing protein WDR33 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    128136260..128246425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342825.1 → XP_054198800.1  pre-mRNA 3' end processing protein WDR33 isoform X1

    UniProtKB/Swiss-Prot
    Q05DP8, Q53FG9, Q587J1, Q69YF7, Q6NUQ0, Q9C0J8, Q9NUL1

  2. XM_054342826.1 → XP_054198801.1  pre-mRNA 3' end processing protein WDR33 isoform X2

  3. XM_054342827.1 → XP_054198802.1  pre-mRNA 3' end processing protein WDR33 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0J8.2 GenPept UniProtKB/Swiss-Prot:Q9C0J8

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