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

    Gene ID: 55339, updated on 17-Jun-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
    mouse all
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    Genomic context

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    See WDR33 in Genome Data Viewer
    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 mRNA 3'-end processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    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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    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_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

    Gene LinkOut

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