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

Gene ID: 76816, updated on 21-Apr-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. 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, Apr 2022]
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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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
  • 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. 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
  3. 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
  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)
  • Gene trapped (1) 
  • Targeted (2) 
  • Endonuclease-mediated (4)  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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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
acts_upstream_of_or_within 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 anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in cell projection 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
  
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 cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
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

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