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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
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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)

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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
    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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