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    Sdccag8 serologically defined colon cancer antigen 8 [ Mus musculus (house mouse) ]

    Gene ID: 76816, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Sdccag8provided by MGI
    Official Full Name
    serologically defined colon cancer antigen 8provided by MGI
    Primary source
    MGI:MGI:1924066
    See related
    Ensembl:ENSMUSG00000026504 AllianceGenome:MGI:1924066
    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
    Cccap; 2700048G21Rik; 5730470G24Rik
    Summary
    Involved in establishment of cell polarity; regulation of cilium assembly; and tube formation. Acts upstream of or within microtubule organizing center organization and neuron migration. Located in cytoplasm; microtubule organizing center; and photoreceptor cell cilium. Is expressed in brain. Used to study Bardet-Biedl syndrome 16 and nephronophthisis. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 16 and Senior-Loken syndrome. Orthologous to human SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in frontal lobe adult (RPKM 6.1), CNS E18 (RPKM 6.1) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sdccag8 in Genome Data Viewer
    Location:
    1 H4; 1 82.66 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (176642226..176848004)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (176814660..177020438)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3336 Neighboring gene STARR-seq mESC enhancer starr_03119 Neighboring gene STARR-seq mESC enhancer starr_03120 Neighboring gene predicted gene, 26104 Neighboring gene centrosomal protein 170 Neighboring gene STARR-positive B cell enhancer ABC_E10063 Neighboring gene STARR-positive B cell enhancer ABC_E10064 Neighboring gene STARR-positive B cell enhancer ABC_E3337 Neighboring gene microRNA 350 Neighboring gene STARR-positive B cell enhancer ABC_E5862 Neighboring gene high mobility group AT-hook 2, pseudogene 1 Neighboring gene predicted gene, 38158 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:178876211-178876412 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:178880303-178880504 Neighboring gene predicted gene 15423 Neighboring gene thymoma viral proto-oncogene 3 Neighboring gene STARR-positive B cell enhancer ABC_E7781 Neighboring gene STARR-seq mESC enhancer starr_03123 Neighboring gene predicted gene, 36904 Neighboring gene STARR-positive B cell enhancer ABC_E11110 Neighboring gene STARR-positive B cell enhancer mm9_chr1:179371945-179372246 Neighboring gene zinc finger and BTB domain containing 18

    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 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. Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations. Ren ZL, et al. Zool Res, 2022 May 18. PMID 35503560, Free PMC Article
    2. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. Airik R, et al. J Am Soc Nephrol, 2014 Nov. PMID 24722439, Free PMC Article
    3. Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. Weihbrecht K, et al. PLoS One, 2018. PMID 29444170, Free PMC Article
    4. The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis. Tsutsumi R, et al. J Biol Chem, 2022 Mar. PMID 35131266, Free PMC Article
    5. Identification and characterization of the novel centrosome-associated protein CCCAP. Kenedy AA, et al. Gene, 2003 Jan 16. PMID 12559564

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.
      Title: Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.
    2. ascribe the patterning defects in the limb and the secondary palate as well as lung abnormalities to loss of SDCCAG8, while the developmental defects in the brain are likely due to the loss of AKT3
      Title: Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.
    3. SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, AZI1), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome.
      Title: SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
    4. Our analysis of Sdccag8(gt/gt) mice indicates that the pleiotropic phenotypes in these mice may arise through multiple tissue-specific disease mechanisms.
      Title: Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
    5. results reveal a critical role for SDCCAG8 in controlling centrosomal properties and function.
      Title: SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4)  1 citation
    • Gene trapped (1) 
    • Targeted (2) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule organizing center organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within microtubule organizing center organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tube formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tube formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite 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
    		  
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serologically defined colon cancer antigen 8 homolog
    Names
    centrosomal colon cancer autoantigen protein

    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_001357390.1 → NP_001344319.1  serologically defined colon cancer antigen 8 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC144905, AC163009
      Conserved Domains (1) summary
      pfam15964
      Location:6 → 719
      CCCAP; Centrosomal colon cancer autoantigen protein family

    2. NM_029756.3 → NP_084032.1  serologically defined colon cancer antigen 8 homolog isoform 1

      See identical proteins and their annotated locations for NP_084032.1

      Status: VALIDATED

      Source sequence(s)
      AF250729, AK132316
      Consensus CDS
      CCDS35798.1
      UniProtKB/Swiss-Prot
      Q80UF4
      Related
      ENSMUSP00000027785.9, ENSMUST00000027785.15
      Conserved Domains (1) summary
      pfam15964
      Location:6 → 710
      CCCAP; Centrosomal colon cancer autoantigen protein family

    RNA

    1. NR_151682.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF250729, AK136921
      Related
      ENSMUST00000133305.8

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      176642226..176848004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243501.2 → XP_030099361.1  serologically defined colon cancer antigen 8 homolog isoform X2

      Conserved Domains (1) summary
      pfam15964
      Location:6 → 709
      CCCAP; Centrosomal colon cancer autoantigen protein family

    2. XM_006497025.4 → XP_006497088.1  serologically defined colon cancer antigen 8 homolog isoform X1

      Conserved Domains (1) summary
      pfam15964
      Location:6 → 718
      CCCAP; Centrosomal colon cancer autoantigen protein family

    3. XM_036154304.1 → XP_036010197.1  serologically defined colon cancer antigen 8 homolog isoform X3

      Conserved Domains (1) summary
      pfam15964
      Location:6 → 674
      CCCAP; Centrosomal colon cancer autoantigen protein family

    4. XM_030243510.2 → XP_030099370.1  serologically defined colon cancer antigen 8 homolog isoform X5

      Conserved Domains (1) summary
      pfam15964
      Location:1 → 574
      CCCAP; Centrosomal colon cancer autoantigen protein family

    5. XM_030243513.2 → XP_030099373.1  serologically defined colon cancer antigen 8 homolog isoform X7

      Conserved Domains (1) summary
      pfam15964
      Location:1 → 565
      CCCAP; Centrosomal colon cancer autoantigen protein family

    6. XM_036154309.1 → XP_036010202.1  serologically defined colon cancer antigen 8 homolog isoform X6

      Conserved Domains (1) summary
      pfam15964
      Location:1 → 563
      CCCAP; Centrosomal colon cancer autoantigen protein family

    7. XM_030243505.2 → XP_030099365.1  serologically defined colon cancer antigen 8 homolog isoform X4

      Conserved Domains (1) summary
      pfam15964
      Location:1 → 599
      CCCAP; Centrosomal colon cancer autoantigen protein family

    RNA

    1. XR_003947262.2 RNA Sequence

      Related
      ENSMUST00000123409.8

    2. XR_003947261.2 RNA Sequence

    3. XR_004934888.1 RNA Sequence

    4. XR_004934886.1 RNA Sequence

    5. XR_003947264.2 RNA Sequence

    6. XR_004934890.1 RNA Sequence

    7. XR_003947271.1 RNA Sequence

    8. XR_003947267.2 RNA Sequence

    9. XR_003947270.2 RNA Sequence

    10. XR_003947265.2 RNA Sequence

    11. XR_004934887.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80UF4.1 GenPept UniProtKB/Swiss-Prot:Q80UF4

    Gene LinkOut

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

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