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    CEP83 centrosomal protein 83 [ Homo sapiens (human) ]

    Gene ID: 51134, updated on 5-Aug-2022

    Summary

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    Official Symbol
    CEP83provided by HGNC
    Official Full Name
    centrosomal protein 83provided by HGNC
    Primary source
    HGNC:HGNC:17966
    See related
    Ensembl:ENSG00000173588 MIM:615847; AllianceGenome:HGNC:17966
    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
    CCDC41; NPHP18; NY-REN-58
    Summary
    The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in testis (RPKM 3.2), appendix (RPKM 2.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP83 in Genome Data Viewer
    Location:
    12q22
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (94265662..94460454, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (94287218..94441264, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (94700169..94854230, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902988 Neighboring gene plexin C1 Neighboring gene uncharacterized LOC124902987 Neighboring gene RNA, 7SL, cytoplasmic 330, pseudogene Neighboring gene RNA binding motif single stranded interacting protein 2 pseudogene 1 Neighboring gene uncharacterized LOC102724960 Neighboring gene CEP83 divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 483, pseudogene Neighboring gene NSA2 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. Veldman BCF, et al. Am J Med Genet A, 2021 Jul. PMID 33938610, Free PMC Article
    2. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Failler M, et al. Am J Hum Genet, 2014 Jun 5. PMID 24882706, Free PMC Article
    3. Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation. Lo CH, et al. J Cell Biol, 2019 Oct 7. PMID 31455668, Free PMC Article
    4. CCDC41 is required for ciliary vesicle docking to the mother centriole. Joo K, et al. Proc Natl Acad Sci U S A, 2013 Apr 9. PMID 23530209, Free PMC Article
    5. Centriole distal appendages promote membrane docking, leading to cilia initiation. Tanos BE, et al. Genes Dev, 2013 Jan 15. PMID 23348840, Free PMC Article

    See all (27) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
      Title: Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
    2. The results reveal a molecular mechanism of kinase regulation in ciliogenesis and identify CEP83 as a key substrate of TTBK2 during cilia initiation.
      Title: Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.
    3. We have identified mutations in CEP83, another distal appendages component encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.
      Title: Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
    4. CCDC41 is required for the docking of ciliary vesicles
      Title: CCDC41 is required for ciliary vesicle docking to the mother centriole.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Nephronophthisis 18
    MedGen: C3890591 OMIM: 615862 GeneReviews: Nephronophthisis
    		Compare labs

    EBI GWAS Catalog

    Description
    TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • MGC149726

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of centrosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle docking IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    part_of ciliary transition fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    part_of ciliary transition fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 83 kDa
    Names
    NY-REN-58 antigen
    coiled-coil domain-containing protein 41
    renal carcinoma antigen NY-REN-58

    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_051825.1 RefSeqGene

      Range
      5122..157291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042399.2 → NP_001035858.1  centrosomal protein of 83 kDa isoform a

      See identical proteins and their annotated locations for NP_001035858.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC073655, AK056316, BC032943, BC053614, BU608784
      Consensus CDS
      CCDS41820.1
      UniProtKB/Swiss-Prot
      Q08AP1
      UniProtKB/TrEMBL
      J3KNW7
      Related
      ENSP00000344655.5, ENST00000339839.9
      Conserved Domains (1) summary
      cl25732
      Location:229 → 600
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001346457.2 → NP_001333386.1  centrosomal protein of 83 kDa isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC068779, AC073655
      Consensus CDS
      CCDS41820.1
      UniProtKB/Swiss-Prot
      Q08AP1
      UniProtKB/TrEMBL
      J3KNW7
      Conserved Domains (1) summary
      cl25732
      Location:229 → 600
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_001346458.2 → NP_001333387.1  centrosomal protein of 83 kDa isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 5, encodes isoform b.
      Source sequence(s)
      AC068779, AC073655

    4. NM_001346459.2 → NP_001333388.1  centrosomal protein of 83 kDa isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 4, encodes isoform b.
      Source sequence(s)
      AC068779, AC073655

    5. NM_001346460.2 → NP_001333389.1  centrosomal protein of 83 kDa isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform c.
      Source sequence(s)
      AC068779, AC073655
      Consensus CDS
      CCDS86323.1
      UniProtKB/TrEMBL
      F8VYN8
      Related
      ENSP00000448913.1, ENST00000547575.5

    6. NM_001346461.2 → NP_001333390.1  centrosomal protein of 83 kDa isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform c.
      Source sequence(s)
      AC068779, AC073655
      Consensus CDS
      CCDS86323.1
      UniProtKB/TrEMBL
      F8VYN8

    7. NM_001346462.2 → NP_001333391.1  centrosomal protein of 83 kDa isoform d

      Status: REVIEWED

      Source sequence(s)
      AC068779, AC073655

    8. NM_001368037.1 → NP_001354966.1  centrosomal protein of 83 kDa isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 1-3 and 11, encodes isoform a.
      Source sequence(s)
      AC068779, AC073655
      UniProtKB/Swiss-Prot
      Q08AP1

    9. NM_001368038.1 → NP_001354967.1  centrosomal protein of 83 kDa isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 1-3 and 10, encodes isoform a.
      Source sequence(s)
      AC068779, AC073655
      UniProtKB/Swiss-Prot
      Q08AP1

    10. NM_001368039.1 → NP_001354968.1  centrosomal protein of 83 kDa isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 4, 5, and 13, encodes isoform b.
      Source sequence(s)
      AC068779, AC073655

    11. NM_001368040.1 → NP_001354969.1  centrosomal protein of 83 kDa isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 4, 5, and 12, encodes isoform b.
      Source sequence(s)
      AC068779, AC073655

    12. NM_001368041.1 → NP_001354970.1  centrosomal protein of 83 kDa isoform e

      Status: REVIEWED

      Source sequence(s)
      AC068779, AC073655

    13. NM_001368042.1 → NP_001354971.1  centrosomal protein of 83 kDa isoform f

      Status: REVIEWED

      Source sequence(s)
      AC068779, AC073655

    14. NM_016122.3 → NP_057206.2  centrosomal protein of 83 kDa isoform a

      See identical proteins and their annotated locations for NP_057206.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AC073655, AF155115, BC053614, BC107746, DA440413
      Consensus CDS
      CCDS41820.1
      UniProtKB/Swiss-Prot
      Q08AP1, Q9Y592
      UniProtKB/TrEMBL
      J3KNW7, Q3B787
      Related
      ENSP00000380911.4, ENST00000397809.10
      Conserved Domains (1) summary
      cl25732
      Location:229 → 600
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_144441.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068779, AC073655

    2. NR_160431.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068779, AC073655

    3. NR_160432.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068779, AC073655

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      94265662..94460454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428923.1 → XP_047284879.1  centrosomal protein of 83 kDa isoform X1

      UniProtKB/Swiss-Prot
      Q08AP1

    2. XM_047428922.1 → XP_047284878.1  centrosomal protein of 83 kDa isoform X1

      UniProtKB/Swiss-Prot
      Q08AP1

    3. XM_017019386.3 → XP_016874875.1  centrosomal protein of 83 kDa isoform X1

      UniProtKB/Swiss-Prot
      Q08AP1
      UniProtKB/TrEMBL
      J3KNW7
      Conserved Domains (1) summary
      cl25732
      Location:229 → 600
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_047428926.1 → XP_047284882.1  centrosomal protein of 83 kDa isoform X3

    5. XM_017019385.3 → XP_016874874.1  centrosomal protein of 83 kDa isoform X1

      UniProtKB/Swiss-Prot
      Q08AP1
      UniProtKB/TrEMBL
      J3KNW7
      Conserved Domains (1) summary
      cl25732
      Location:229 → 600
      SMC_N; RecF/RecN/SMC N terminal domain

    6. XM_017019389.3 → XP_016874878.1  centrosomal protein of 83 kDa isoform X2

      Conserved Domains (1) summary
      COG1579
      Location:7 → 169
      COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]

    7. XM_024449007.2 → XP_024304775.1  centrosomal protein of 83 kDa isoform X6

      Conserved Domains (1) summary
      cl25732
      Location:5 → 342
      SMC_N; RecF/RecN/SMC N terminal domain

    8. XM_024449005.2 → XP_024304773.1  centrosomal protein of 83 kDa isoform X3

      Conserved Domains (2) summary
      cl25732
      Location:91 → 462
      SMC_N; RecF/RecN/SMC N terminal domain
      cl27403
      Location:5 → 160
      zf-RING_7; C4-type zinc ribbon domain

    9. XM_047428925.1 → XP_047284881.1  centrosomal protein of 83 kDa isoform X3

    10. XM_011538424.3 → XP_011536726.1  centrosomal protein of 83 kDa isoform X1

      See identical proteins and their annotated locations for XP_011536726.1

      UniProtKB/Swiss-Prot
      Q08AP1
      UniProtKB/TrEMBL
      J3KNW7
      Conserved Domains (1) summary
      cl25732
      Location:229 → 600
      SMC_N; RecF/RecN/SMC N terminal domain

    11. XM_047428927.1 → XP_047284883.1  centrosomal protein of 83 kDa isoform X3

    12. XM_047428928.1 → XP_047284884.1  centrosomal protein of 83 kDa isoform X4

      Related
      ENSP00000447783.1, ENST00000547232.5

    13. XM_047428929.1 → XP_047284885.1  centrosomal protein of 83 kDa isoform X5

    14. XM_047428930.1 → XP_047284886.1  centrosomal protein of 83 kDa isoform X5

    RNA

    1. XR_007063082.1 RNA Sequence

    2. XR_007063081.1 RNA Sequence

    3. XR_007063083.1 RNA Sequence

    4. XR_007063080.1 RNA Sequence

    5. XR_007063084.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      94287218..94441264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y592.3 GenPept UniProtKB/Swiss-Prot:Q9Y592

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