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    Dync2i1 dynein 2 intermediate chain 1 [ Mus musculus (house mouse) ]

    Gene ID: 217935, updated on 12-May-2024

    Summary

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    Official Symbol
    Dync2i1provided by MGI
    Official Full Name
    dynein 2 intermediate chain 1provided by MGI
    Primary source
    MGI:MGI:2445085
    See related
    Ensembl:ENSMUSG00000042050 AllianceGenome:MGI:2445085
    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
    Wdr60; Dync2l1; D430033N04Rik
    Summary
    Predicted to enable dynein heavy chain binding activity and dynein light chain binding activity. Predicted to be involved in cilium assembly; embryonic skeletal system morphogenesis; and intraciliary retrograde transport. Predicted to act upstream of or within cell projection organization. Located in cilium. Is expressed in mandible; maxilla; olfactory epithelium; and orbito-sphenoid. Human ortholog(s) of this gene implicated in short-rib thoracic dysplasia 8 with or without polydactyly. Orthologous to human DYNC2I1 (dynein 2 intermediate chain 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 6.3), frontal lobe adult (RPKM 3.7) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 F2; 12 62.65 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (116169881..116226665, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (116206261..116263046, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_33401 Neighboring gene predicted gene, 23732 Neighboring gene STARR-positive B cell enhancer ABC_E10777 Neighboring gene predicted gene, 46330 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:117519461-117519695 Neighboring gene extended synaptotagmin-like protein 2 Neighboring gene RIKEN cDNA 2310058N22 gene Neighboring gene RIKEN cDNA D430020J02 gene Neighboring gene STARR-positive B cell enhancer ABC_E4047

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development. Li C, et al. Cell Death Dis, 2021 Jan 12. PMID 33436552, Free PMC Article
    2. Proteomic analysis of mammalian primary cilia. Ishikawa H, et al. Curr Biol, 2012 Mar 6. PMID 22326026, Free PMC Article
    3. Deficiency of Wdr60 and Wdr34 cause distinct neural tube malformation phenotypes in early embryos. Yan L, et al. Front Cell Dev Biol, 2023. PMID 37228654, Free PMC Article
    4. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article
    5. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Transposon induced (1)  1 citation

    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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    Homology

    Clone Names

    • MGC29335

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein heavy chain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein light chain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in embryonic skeletal system morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary retrograde transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with ciliary base ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary base ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of cytoplasmic dynein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with interphase microtubule organizing center ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in pericentriolar material ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with spindle pole ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cytoplasmic dynein 2 intermediate chain 1
    Names
    WD repeat domain 60
    WD repeat-containing protein 60

    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_146039.3 → NP_666151.3  cytoplasmic dynein 2 intermediate chain 1

      See identical proteins and their annotated locations for NP_666151.3

      Status: VALIDATED

      Source sequence(s)
      AK052482, AK144444, CJ150229
      Consensus CDS
      CCDS36575.1
      UniProtKB/Swiss-Prot
      Q3UNM4, Q8C761
      Related
      ENSMUSP00000047334.7, ENSMUST00000039349.8
      Conserved Domains (4) summary
      COG2319
      Location:570 → 966
      WD40; WD40 repeat [General function prediction only]
      pfam12871
      Location:52 → 133
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term
      sd00039
      Location:808 → 844
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:639 → 927
      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_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
      116169881..116226665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515780.5 → XP_006515843.1  cytoplasmic dynein 2 intermediate chain 1 isoform X1

      Conserved Domains (3) summary
      PTZ00121
      Location:48 → 396
      PTZ00121; MAEBL; Provisional
      COG2319
      Location:604 → 1000
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:842 → 878
      7WD40; WD40 repeat [structural motif]

    2. XM_036157371.1 → XP_036013264.1  cytoplasmic dynein 2 intermediate chain 1 isoform X2

      Conserved Domains (3) summary
      COG2319
      Location:430 → 826
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:668 → 704
      7WD40; WD40 repeat [structural motif]
      cl27104
      Location:69 → 233
      Mak16; Mak16 protein C-terminal region

    3. XM_011244097.4 → XP_011242399.1  cytoplasmic dynein 2 intermediate chain 1 isoform X3

      Conserved Domains (2) summary
      COG2319
      Location:145 → 541
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:383 → 419
      7WD40; WD40 repeat [structural motif]

    RNA

    1. XR_381520.5 RNA Sequence

    2. XR_004937492.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C761.1 GenPept UniProtKB/Swiss-Prot:Q8C761

    Gene LinkOut

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

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