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    Cep164 centrosomal protein 164 [ Mus musculus (house mouse) ]

    Gene ID: 214552, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Cep164provided by MGI
    Official Full Name
    centrosomal protein 164provided by MGI
    Primary source
    MGI:MGI:2384878
    See related
    Ensembl:ENSMUSG00000043987 AllianceGenome:MGI:2384878
    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
    D030051D21
    Summary
    Predicted to be involved in cilium assembly. Predicted to act upstream of or within DNA repair; cell division; and cell projection organization. Located in 9+2 motile cilium; apical part of cell; and centriole. Part of ciliary transition fiber. Is expressed in several structures, including brain; genitourinary system; gut; respiratory system; and retina. Human ortholog(s) of this gene implicated in nephronophthisis 15. Orthologous to human CEP164 (centrosomal protein 164). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 15.9), placenta adult (RPKM 6.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 A5.2; 9 25.1 cM
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (45678244..45739984, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (45766946..45828686, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4833428L15 gene Neighboring gene STARR-seq mESC enhancer starr_24004 Neighboring gene DS cell adhesion molecule like 1 Neighboring gene STARR-seq mESC enhancer starr_24005 Neighboring gene predicted gene, 22069 Neighboring gene STARR-positive B cell enhancer mm9_chr9:45636585-45636886 Neighboring gene STARR-positive B cell enhancer mm9_chr9:45637216-45637517 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:45655339-45655522 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene beta-site APP cleaving enzyme 1 Neighboring gene ring finger protein 214

    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. CEP164 is essential for efferent duct multiciliogenesis and male fertility. Hoque M, et al. Reproduction, 2021 Jul 8. PMID 34085951, Free PMC Article
    2. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Airik R, et al. Kidney Int, 2019 Aug. PMID 31248650, Free PMC Article
    3. Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT). Reed M, et al. PLoS Genet, 2022 Sep. PMID 36074756, Free PMC Article
    4. Embryonic and foetal expression patterns of the ciliopathy gene CEP164. Devlin LA, et al. PLoS One, 2020. PMID 31990917, Free PMC Article
    5. Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation. Siller SS, et al. PLoS Genet, 2017 Dec. PMID 29244804, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CEP164 is essential for efferent duct multiciliogenesis and male fertility.
      Title: CEP164 is essential for efferent duct multiciliogenesis and male fertility.
    2. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.
      Title: Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.
    3. these data support a conserved role for CEP164 throughout the development of numerous organs, which, we suggest, accounts for the multi-system disease phenotype of CEP164-mediated Nephronophthisis-related ciliopathies
      Title: Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
    4. Studies unravel unique requirements for CEP164 in primary versus multiciliogenesis and suggest that CEP164 modulates the selective transport of membrane vesicles and their cargoes into the ciliary compartment in multiciliated cells.
      Title: Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • KIAA1052, MGC38792

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ciliary transition fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ciliary transition fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ciliary transition fiber 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
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 164 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_001081373.3 → NP_001074842.2  centrosomal protein of 164 kDa

      Status: VALIDATED

      Source sequence(s)
      AC126804
      Consensus CDS
      CCDS52783.1
      UniProtKB/Swiss-Prot
      Q3TYF9, Q5DU05, Q6NZG6, Q8BQD2, Q8BSI0
      UniProtKB/TrEMBL
      D3YVU3
      Related
      ENSMUSP00000114053.2, ENSMUST00000117194.8
      Conserved Domains (7) summary
      COG1842
      Location:547 → 770
      PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
      pfam00397
      Location:58 → 87
      WW; WW domain
      pfam15619
      Location:738 → 922
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cd16269
      Location:647 → 658
      GBP_C; coiled coil [structural motif]
      cl07893
      Location:721 → 793
      AmyAc_family; Alpha amylase catalytic domain family
      cl19219
      Location:806 → 900
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:556 → 675
      GBP_C; Guanylate-binding protein, C-terminal domain

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      45678244..45739984 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154821.1 → XP_036010714.1  centrosomal protein of 164 kDa isoform X8

      UniProtKB/Swiss-Prot
      Q3TYF9, Q5DU05, Q6NZG6, Q8BQD2, Q8BSI0
      Conserved Domains (4) summary
      COG1196
      Location:622 → 963
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:825 → 1136
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam02463
      Location:426 → 806
      SMC_N; RecF/RecN/SMC N terminal domain
      pfam00397
      Location:58 → 87
      WW; WW domain

    2. XM_006510140.3 → XP_006510203.1  centrosomal protein of 164 kDa isoform X7

      UniProtKB/Swiss-Prot
      Q3TYF9, Q5DU05, Q6NZG6, Q8BQD2, Q8BSI0
      Conserved Domains (3) summary
      COG1196
      Location:719 → 1060
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:908 → 1233
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    3. XM_006510139.3 → XP_006510202.1  centrosomal protein of 164 kDa isoform X6

      Conserved Domains (4) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1076 → 1417
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1265 → 1600
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    4. XM_006510136.3 → XP_006510199.1  centrosomal protein of 164 kDa isoform X3

      Conserved Domains (5) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1175 → 1516
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1364 → 1689
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam02463
      Location:979 → 1359
      SMC_N; RecF/RecN/SMC N terminal domain
      pfam00397
      Location:58 → 87
      WW; WW domain

    5. XM_006510138.3 → XP_006510201.1  centrosomal protein of 164 kDa isoform X5

      Conserved Domains (5) summary
      PTZ00121
      Location:865 → 1301
      PTZ00121; MAEBL; Provisional
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1124 → 1465
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1313 → 1648
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    6. XM_006510135.3 → XP_006510198.1  centrosomal protein of 164 kDa isoform X2

      Conserved Domains (4) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1223 → 1564
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1412 → 1737
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    7. XM_006510137.3 → XP_006510200.1  centrosomal protein of 164 kDa isoform X4

      Conserved Domains (4) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1173 → 1514
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1362 → 1687
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    8. XM_006510133.1 → XP_006510196.1  centrosomal protein of 164 kDa isoform X1

      See identical proteins and their annotated locations for XP_006510196.1

      UniProtKB/TrEMBL
      A0A1L1SSA4
      Related
      ENSMUSP00000149815.2, ENSMUST00000213154.2
      Conserved Domains (4) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1272 → 1613
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1461 → 1786
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    9. XM_011242446.4 → XP_011240748.1  centrosomal protein of 164 kDa isoform X1

      See identical proteins and their annotated locations for XP_011240748.1

      UniProtKB/TrEMBL
      A0A1L1SSA4
      Conserved Domains (4) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1272 → 1613
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1461 → 1786
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    10. XM_030244219.2 → XP_030100079.1  centrosomal protein of 164 kDa isoform X1

      UniProtKB/TrEMBL
      A0A1L1SSA4
      Conserved Domains (4) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:1272 → 1613
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02169
      Location:1461 → 1786
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam00397
      Location:58 → 87
      WW; WW domain

    11. XM_011242448.1 → XP_011240750.1  centrosomal protein of 164 kDa isoform X9

      See identical proteins and their annotated locations for XP_011240750.1

      Conserved Domains (3) summary
      PHA03247
      Location:325 → 740
      PHA03247; large tegument protein UL36; Provisional
      COG0711
      Location:1248 → 1316
      AtpF; FoF1-type ATP synthase, membrane subunit b or b' [Energy production and conversion]
      pfam00397
      Location:58 → 87
      WW; WW domain

    RNA

    1. XR_379109.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5DU05.2 GenPept UniProtKB/Swiss-Prot:Q5DU05

    Gene LinkOut

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