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

    Gene ID: 10806, updated on 8-Jul-2021

    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
    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
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    Genomic context

    See SDCCAG8 in Genome Data Viewer
    Location:
    1q43-q44
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (243255418..243503683)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (243419343..243663393)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nascent polypeptide-associated complex subunit alpha, muscle-specific form-like Neighboring gene long intergenic non-protein coding RNA 1347 Neighboring gene RNA, U6 small nuclear 747, pseudogene Neighboring gene centrosomal protein 170 Neighboring gene FCF1 pseudogene 7 Neighboring gene microRNA 4677 Neighboring gene uncharacterized LOC105373255 Neighboring gene AKT serine/threonine kinase 3 Neighboring gene fatty acid binding protein 7 pseudogene 1 Neighboring gene VISTA enhancer hs545

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    GeneReviews: Not available
    Genome-wide association study identifies five new schizophrenia loci.
    GeneReviews: Not available
    Genome-wide association study of selenium concentrations.
    GeneReviews: Not available
    GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
    GeneReviews: Not available
    Senior-Loken syndrome 7
    MedGen: C3150877 OMIM: 613615 GeneReviews: Not available
    Compare labs
    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.
    GeneReviews: Not available

    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
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      243255418..243503683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544026.3XP_011542328.1  serologically defined colon cancer antigen 8 isoform X3

      See identical proteins and their annotated locations for XP_011542328.1

      Conserved Domains (1) summary
      pfam15964
      Location:31669
      CCCAP; Centrosomal colon cancer autoantigen protein family
    2. XM_011544028.3XP_011542330.1  serologically defined colon cancer antigen 8 isoform X8

      See identical proteins and their annotated locations for XP_011542330.1

      Conserved Domains (1) summary
      pfam15964
      Location:31594
      CCCAP; Centrosomal colon cancer autoantigen protein family
    3. XM_024452548.1XP_024308316.1  serologically defined colon cancer antigen 8 isoform X5

      Conserved Domains (1) summary
      pfam15964
      Location:1640
      CCCAP; Centrosomal colon cancer autoantigen protein family
    4. XM_024452547.1XP_024308315.1  serologically defined colon cancer antigen 8 isoform X9

      Conserved Domains (1) summary
      pfam15964
      Location:1570
      CCCAP; Centrosomal colon cancer autoantigen protein family
    5. XM_024452540.1XP_024308308.1  serologically defined colon cancer antigen 8 isoform X5

      Conserved Domains (1) summary
      pfam15964
      Location:1640
      CCCAP; Centrosomal colon cancer autoantigen protein family
    6. XM_005273018.2XP_005273075.1  serologically defined colon cancer antigen 8 isoform X10

      See identical proteins and their annotated locations for XP_005273075.1

      Conserved Domains (1) summary
      pfam15964
      Location:1565
      CCCAP; Centrosomal colon cancer autoantigen protein family
    7. XM_017000105.2XP_016855594.1  serologically defined colon cancer antigen 8 isoform X7

    8. XM_005273013.5XP_005273070.1  serologically defined colon cancer antigen 8 isoform X4

      See identical proteins and their annotated locations for XP_005273070.1

      Conserved Domains (1) summary
      pfam15964
      Location:6663
      CCCAP; Centrosomal colon cancer autoantigen protein family
    9. XM_005273022.4XP_005273079.1  serologically defined colon cancer antigen 8 isoform X12

      See identical proteins and their annotated locations for XP_005273079.1

      Conserved Domains (1) summary
      pfam15964
      Location:4399
      CCCAP; Centrosomal colon cancer autoantigen protein family
    10. XM_017000104.2XP_016855593.1  serologically defined colon cancer antigen 8 isoform X6

    11. XM_005273023.5XP_005273080.1  serologically defined colon cancer antigen 8 isoform X14

      See identical proteins and their annotated locations for XP_005273080.1

      UniProtKB/Swiss-Prot
      Q86SQ7
      Conserved Domains (1) summary
      pfam15964
      Location:6356
      CCCAP; Centrosomal colon cancer autoantigen protein family
    12. XM_024452549.1XP_024308317.1  serologically defined colon cancer antigen 8 isoform X11

      Conserved Domains (1) summary
      pfam15964
      Location:1529
      CCCAP; Centrosomal colon cancer autoantigen protein family
    13. XM_024452537.1XP_024308305.1  serologically defined colon cancer antigen 8 isoform X1

      Conserved Domains (1) summary
      pfam15964
      Location:1638
      CCCAP; Centrosomal colon cancer autoantigen protein family
    14. XM_024452539.1XP_024308307.1  serologically defined colon cancer antigen 8 isoform X2

      Conserved Domains (1) summary
      pfam15964
      Location:1602
      CCCAP; Centrosomal colon cancer autoantigen protein family
    15. XM_011544030.3XP_011542332.1  serologically defined colon cancer antigen 8 isoform X13

      See identical proteins and their annotated locations for XP_011542332.1

      Conserved Domains (1) summary
      pfam15964
      Location:1391
      CCCAP; Centrosomal colon cancer autoantigen protein family

    RNA

    1. XR_002958955.1 RNA Sequence

    2. XR_002958965.1 RNA Sequence

    3. XR_002958956.1 RNA Sequence

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187519.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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