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

Gene ID: 10806, updated on 27-Nov-2024

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
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Genomic context

See SDCCAG8 in Genome Data Viewer
Location:
1q43-q44
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (243256041..243500091)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (242667066..242911895)
RS_2024_09 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 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:243277095-243277846 Neighboring gene NANOG hESC enhancer GRCh37_chr1:243285114-243285617 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:243337129-243337774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243338714-243339414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243339415-243340113 Neighboring gene centrosomal protein 170 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243448123-243448859 Neighboring gene Sharpr-MPRA regulatory region 8354 Neighboring gene FCF1 pseudogene 7 Neighboring gene uncharacterized LOC124904569 Neighboring gene microRNA 4677 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:243639115-243639288 Neighboring gene Sharpr-MPRA regulatory region 5448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:243645455-243646070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:243647393-243647951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243653141-243653664 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243653665-243654188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:243659455-243660106 Neighboring gene AKT serine/threonine kinase 3 Neighboring gene Sharpr-MPRA regulatory region 1428 Neighboring gene fatty acid binding protein 7 pseudogene 1 Neighboring gene VISTA enhancer hs545 Neighboring gene NANOG hESC enhancer GRCh37_chr1:243903627-243904128 Neighboring gene AKT3 intronic transcript 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

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
 
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
 
involved_in neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
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 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)

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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.

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
    UniProtKB/TrEMBL
    A0A0G2JR20
    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
    UniProtKB/TrEMBL
    A0A0G2JR20
    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
    UniProtKB/TrEMBL
    B4DRD9
    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
    UniProtKB/TrEMBL
    A0A0G2JR50
    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
    UniProtKB/TrEMBL
    A0A0G2JR20
    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
    O60527, Q3ZCR6, Q86SQ7, Q8N5F2, Q9P0F1
    UniProtKB/TrEMBL
    B4DRD9
    Related
    ENSP00000355499.3, ENST00000366541.8
    Conserved Domains (1) summary
    pfam15964
    Location:6706
    CCCAP; Centrosomal colon cancer autoantigen protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)