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CEP83 centrosomal protein 83 [ Homo sapiens (human) ]

Gene ID: 51134, updated on 2-Nov-2024

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
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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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (94265662..94460454, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (94249742..94441264, complement)
RS_2024_09 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 OCT4-NANOG hESC enhancer GRCh37_chr12:94563164-94563859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:94564987-94565496 Neighboring gene plexin C1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:94579005-94579506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:94580673-94581173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6782 Neighboring gene uncharacterized LOC124902987 Neighboring gene MPRA-validated peak1895 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:94654721-94655463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4726 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94658019-94658782 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94657254-94658018 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94698110-94698989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4727 Neighboring gene RNA, 7SL, cytoplasmic 330, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:94819773-94820337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6784 Neighboring gene RNA binding motif single stranded interacting protein 2 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:94849571-94849720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6785 Neighboring gene uncharacterized LOC102724960 Neighboring gene CEP83 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr12:94915144-94915727 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 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. The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage. Mansour F, et al. Elife, 2022 Oct 12. PMID 36222666, Free PMC Article
  4. 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
  5. 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

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.
    Title: The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.
  2. 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.
  3. 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.
  4. 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.
  5. 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-Related Ciliopathies
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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 identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
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
  
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
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ciliary transition fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
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_051825.2 RefSeqGene

    Range
    5587..157756
    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
    A4FVB1, Q08AP1, Q9Y592
    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
    A4FVB1, Q08AP1, Q9Y592
    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
    UniProtKB/TrEMBL
    Q3B787

  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
    Consensus CDS
    CCDS41820.1
    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

  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
    Consensus CDS
    CCDS41820.1
    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

  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
    A4FVB1, Q08AP1, Q9Y592
    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: 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_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
    A4FVB1, Q08AP1, Q9Y592

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

    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

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

    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592
    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
    A4FVB1, Q08AP1, Q9Y592
    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
    A4FVB1, Q08AP1, Q9Y592
    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
    94249742..94441264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372166.1 → XP_054228141.1  centrosomal protein of 83 kDa isoform X1

    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

  2. XM_054372165.1 → XP_054228140.1  centrosomal protein of 83 kDa isoform X1

    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

  3. XM_054372167.1 → XP_054228142.1  centrosomal protein of 83 kDa isoform X1

    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

  4. XM_054372168.1 → XP_054228143.1  centrosomal protein of 83 kDa isoform X2

  5. XM_054372173.1 → XP_054228148.1  centrosomal protein of 83 kDa isoform X6

  6. XM_054372170.1 → XP_054228145.1  centrosomal protein of 83 kDa isoform X3

  7. XM_054372169.1 → XP_054228144.1  centrosomal protein of 83 kDa isoform X3

  8. XM_054372164.1 → XP_054228139.1  centrosomal protein of 83 kDa isoform X1

    UniProtKB/Swiss-Prot
    A4FVB1, Q08AP1, Q9Y592

  9. XM_054372171.1 → XP_054228146.1  centrosomal protein of 83 kDa isoform X3

  10. XM_054372172.1 → XP_054228147.1  centrosomal protein of 83 kDa isoform X4

RNA

  1. XR_008488603.1 RNA Sequence

  2. XR_008488602.1 RNA Sequence

  3. XR_008488601.1 RNA Sequence

  4. XR_008488604.1 RNA Sequence

  5. XR_008488605.1 RNA Sequence

  6. XR_008488606.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y592.3 GenPept UniProtKB/Swiss-Prot:Q9Y592

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