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    Wdr35 WD repeat domain 35 [ Mus musculus (house mouse) ]

    Gene ID: 74682, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Wdr35provided by MGI
    Official Full Name
    WD repeat domain 35provided by MGI
    Primary source
    MGI:MGI:1921932
    See related
    Ensembl:ENSMUSG00000066643 AllianceGenome:MGI:1921932
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA1336; 4931430C06; 4930459M12Rik
    Summary
    Involved in cilium assembly. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in axoneme; centrosome; and ciliary basal body. Part of intraciliary transport particle A. Is expressed in several structures, including choroid plexus; future forebrain; limb mesenchyme; lobar bronchus epithelium; and sensory organ. Used to study short-rib thoracic dysplasia 7 with or without polydactyly. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; cranioectodermal dysplasia 2; and short-rib thoracic dysplasia 7 with or without polydactyly. Orthologous to human WDR35 (WD repeat domain 35). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 14.6), CNS E18 (RPKM 6.0) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Wdr35 in Genome Data Viewer
    Location:
    12 A1.1; 12 3.97 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (9023897..9078848)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (8973998..9028848)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1439 Neighboring gene lysosomal-associated protein transmembrane 4A Neighboring gene matrilin 3 Neighboring gene tetratricopeptide repeat domain 32 Neighboring gene STARR-seq mESC enhancer starr_31525 Neighboring gene predicted gene, 46323

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia. Quidwai T, et al. Elife, 2021 Nov 4. PMID 34734804, Free PMC Article
    2. Enhanced expression of WD repeat-containing protein 35 via CaMKK/AMPK activation in bupivacaine-treated Neuro2a cells. Huang L, et al. PLoS One, 2014. PMID 24859235, Free PMC Article
    3. Enhanced expression of WD repeat-containing protein 35 via nuclear factor-kappa B activation in bupivacaine-treated Neuro2a cells. Huang L, et al. PLoS One, 2014. PMID 24466034, Free PMC Article
    4. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Mill P, et al. Am J Hum Genet, 2011 Apr 8. PMID 21473986, Free PMC Article
    5. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Caparrós-Martín JA, et al. Hum Mol Genet, 2015 Jul 15. PMID 25908617, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia.
      Title: A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia.
    2. These results suggest that bupivacaine activates AMPK and p38 MAPK via CaMKK in Neuro2a cells, and that the CaMKK/AMPK/p38 MAPK pathway is involved in regulating WDR35 expression.
      Title: Enhanced expression of WD repeat-containing protein 35 via CaMKK/AMPK activation in bupivacaine-treated Neuro2a cells.
    3. C-Jun siRNA did not inhibit the bupivacaine-induced increase in WDR35 mRNA expression.
      Title: Enhanced expression of WD repeat-containing protein 35 via nuclear factor-kappa B activation in bupivacaine-treated Neuro2a cells.
    4. In a mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway.
      Title: Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (3) 
    • Targeted (1) 

    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

    • KIAA1336

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in cellular response to tumor necrosis factor ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intraciliary retrograde transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary retrograde transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intraciliary transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of nitric oxide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of release of cytochrome c from mitochondria ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of vasoconstriction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of intraciliary transport particle A IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of intraciliary transport particle A ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of intraciliary transport particle A ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 35

    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_001159527.1 → NP_001152999.1  WD repeat-containing protein 35 isoform 2

      See identical proteins and their annotated locations for NP_001152999.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (2) thus lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK029896, BC056925
      Consensus CDS
      CCDS49027.1
      UniProtKB/Swiss-Prot
      Q8BND3
      Related
      ENSMUSP00000106742.3, ENSMUST00000111113.3
      Conserved Domains (2) summary
      COG2319
      Location:7 → 217
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:18 → 69
      7WD40; WD40 repeat [structural motif]

    2. NM_172470.3 → NP_766058.3  WD repeat-containing protein 35 isoform 1

      See identical proteins and their annotated locations for NP_766058.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK029896, BC056925
      Consensus CDS
      CCDS25807.1
      UniProtKB/Swiss-Prot
      E9QLW3, Q8BND3, Q8CDL4
      Related
      ENSMUSP00000082895.7, ENSMUST00000085745.13
      Conserved Domains (3) summary
      COG2319
      Location:7 → 217
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:18 → 69
      7WD40; WD40 repeat [structural motif]
      cl26078
      Location:829 → 920
      Clathrin; Region in Clathrin and VPS

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      9023897..9078848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157633.1 → XP_036013526.1  WD repeat-containing protein 35 isoform X1

      Conserved Domains (2) summary
      COG2319
      Location:7 → 217
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:18 → 69
      7WD40; WD40 repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BND3.3 GenPept UniProtKB/Swiss-Prot:Q8BND3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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