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    SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 [ Homo sapiens (human) ]

    Gene ID: 10806, updated on 5-Aug-2022

    Summary

    Official Symbol
    SDCCAG8provided by HGNC
    Official Full Name
    SHH signaling and ciliogenesis regulator SDCCAG8provided by HGNC
    Primary source
    HGNC:HGNC:10671
    See related
    Ensembl:ENSG00000054282 MIM:613524; AllianceGenome:HGNC:10671
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBS16; CCCAP; SLSN7; NPHP10; hCCCAP; HSPC085; NY-CO-8; CCCAP SLSN7
    Summary
    This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.5), lung (RPKM 3.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SDCCAG8 in Genome Data Viewer
    Location:
    1q43-q44
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (243256041..243500091)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (242667066..242911895)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (243419343..243663393)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904568 Neighboring gene long intergenic non-protein coding RNA 1347 Neighboring gene centrosomal protein 170 Neighboring gene Sharpr-MPRA regulatory region 8354 Neighboring gene FCF1 pseudogene 7 Neighboring gene uncharacterized LOC124904569 Neighboring gene microRNA 4677 Neighboring gene Sharpr-MPRA regulatory region 5448 Neighboring gene AKT serine/threonine kinase 3 Neighboring gene Sharpr-MPRA regulatory region 1428 Neighboring gene fatty acid binding protein 7 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome Compare labs
    Bardet-Biedl syndrome 16
    MedGen: C3889474 OMIM: 615993 GeneReviews: Bardet-Biedl Syndrome Overview
    Compare labs
    Senior-Loken syndrome 7
    MedGen: C3150877 OMIM: 613615 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog
    GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
    EBI GWAS Catalog
    Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 MA is identified to have a physical interaction with serologically defined colon cancer antigen 8 (SDCCAG8) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    PubMed 
    involved_in establishment of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in microtubule organizing center organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tube formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tube formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in photoreceptor cell cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    serologically defined colon cancer antigen 8
    Names
    Bardet-Biedl syndrome 16
    antigen NY-CO-8
    centrosomal colon cancer autoantigen protein
    nephrocystin 10

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_027811.1 RefSeqGene

      Range
      5037..249087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350246.2NP_001337175.1  serologically defined colon cancer antigen 8 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092806, AC096539, AF250731, AW900472, BQ018376, CB132804, DC326670
      Conserved Domains (1) summary
      pfam15964
      Location:1405
      CCCAP; Centrosomal colon cancer autoantigen protein family
    2. NM_001350247.2NP_001337176.1  serologically defined colon cancer antigen 8 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092806, AC096539, AF250731, AW900472, BQ018376, CB132804, DC326670
      Conserved Domains (1) summary
      pfam15964
      Location:1405
      CCCAP; Centrosomal colon cancer autoantigen protein family
    3. NM_001350248.2NP_001337177.1  serologically defined colon cancer antigen 8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC092806, AC096539, AF250731, BQ018376, BX457273, DC326670
      Conserved Domains (1) summary
      pfam15964
      Location:6738
      CCCAP; Centrosomal colon cancer autoantigen protein family
    4. NM_001350249.2NP_001337178.1  serologically defined colon cancer antigen 8 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC096539, AF250731, BQ018376, DB109569, DC326670
      Conserved Domains (1) summary
      pfam15964
      Location:1608
      CCCAP; Centrosomal colon cancer autoantigen protein family
    5. NM_001350251.2NP_001337180.1  serologically defined colon cancer antigen 8 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092806, AC096539, AF250731, AW900472, BQ018376, BX457273, DC326670
      Conserved Domains (1) summary
      pfam15964
      Location:1405
      CCCAP; Centrosomal colon cancer autoantigen protein family
    6. NM_006642.5NP_006633.1  serologically defined colon cancer antigen 8 isoform 1

      See identical proteins and their annotated locations for NP_006633.1

      Status: REVIEWED

      Source sequence(s)
      AC096539, AF250731, BQ018376, DC326670
      Consensus CDS
      CCDS31075.1
      UniProtKB/Swiss-Prot
      Q86SQ7, Q9P0F1
      Related
      ENSP00000355499.3, ENST00000366541.8
      Conserved Domains (1) summary
      pfam15964
      Location:6706
      CCCAP; Centrosomal colon cancer autoantigen protein family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      243256041..243500091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187519.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      268149..512199
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      242667066..242911895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)