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CEP83 centrosomal protein 83 [ Homo sapiens (human) ]

Gene ID: 51134, updated on 8-Jul-2021

Summary

Official Symbol
CEP83provided by HGNC
Official Full Name
centrosomal protein 83provided by HGNC
Primary source
HGNC:HGNC:17966
See related
Ensembl:ENSG00000173588 MIM:615847
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

See CEP83 in Genome Data Viewer
Location:
12q22
Exon count:
31
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (94265652..94460616, complement)
105.20201022 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 LOC105369913 Neighboring gene REST corepressor 2 pseudogene Neighboring gene plexin C1 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

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

Phenotypes

Associated conditions

Description Tests
Nephronophthisis 18
MedGen: C3890591 OMIM: 615862 GeneReviews: Nephronophthisis
not available
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
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 IEA
Inferred from Electronic Annotation
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
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriole IDA
Inferred from Direct Assay
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

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_001042399.2NP_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/TrEMBL
    J3KNW7
    Related
    ENSP00000344655.5, ENST00000339839.9
    Conserved Domains (1) summary
    cl25732
    Location:229600
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001346457.2NP_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/TrEMBL
    J3KNW7
    Conserved Domains (1) summary
    cl25732
    Location:229600
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001346458.2NP_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_001346459.2NP_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_001346460.2NP_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_001346461.2NP_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_001346462.2NP_001333391.1  centrosomal protein of 83 kDa isoform d

    Status: REVIEWED

    Source sequence(s)
    AC068779, AC073655
  8. NM_001368037.1NP_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
  9. NM_001368038.1NP_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
  10. NM_001368039.1NP_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_001368040.1NP_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_001368041.1NP_001354970.1  centrosomal protein of 83 kDa isoform e

    Status: REVIEWED

    Source sequence(s)
    AC068779, AC073655
  13. NM_001368042.1NP_001354971.1  centrosomal protein of 83 kDa isoform f

    Status: REVIEWED

    Source sequence(s)
    AC068779, AC073655
  14. NM_016122.3NP_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
    Q9Y592
    UniProtKB/TrEMBL
    J3KNW7, Q3B787
    Related
    ENSP00000380911.4, ENST00000397809.10
    Conserved Domains (1) summary
    cl25732
    Location:229600
    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 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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    94265652..94460616 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449002.1XP_024304770.1  centrosomal protein of 83 kDa isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:229600
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_017019386.2XP_016874875.1  centrosomal protein of 83 kDa isoform X1

    UniProtKB/TrEMBL
    J3KNW7
    Conserved Domains (1) summary
    cl25732
    Location:229600
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_017019385.2XP_016874874.1  centrosomal protein of 83 kDa isoform X1

    UniProtKB/TrEMBL
    J3KNW7
    Conserved Domains (1) summary
    cl25732
    Location:229600
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_024449006.1XP_024304774.1  centrosomal protein of 83 kDa isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:5342
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_017019389.2XP_016874878.1  centrosomal protein of 83 kDa isoform X3

    Related
    ENSP00000380909.3, ENST00000397807.6
    Conserved Domains (1) summary
    COG1579
    Location:7169
    COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]
  6. XM_024449007.1XP_024304775.1  centrosomal protein of 83 kDa isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:5342
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_024449005.1XP_024304773.1  centrosomal protein of 83 kDa isoform X4

    Conserved Domains (2) summary
    cl25732
    Location:91462
    SMC_N; RecF/RecN/SMC N terminal domain
    cl27403
    Location:5160
    zf-RING_7; C4-type zinc ribbon domain
  8. XM_024449003.1XP_024304771.1  centrosomal protein of 83 kDa isoform X2

    Conserved Domains (2) summary
    cl25732
    Location:106477
    SMC_N; RecF/RecN/SMC N terminal domain
    cl27403
    Location:12175
    zf-RING_7; C4-type zinc ribbon domain
  9. XM_011538424.2XP_011536726.1  centrosomal protein of 83 kDa isoform X1

    See identical proteins and their annotated locations for XP_011536726.1

    UniProtKB/TrEMBL
    J3KNW7
    Conserved Domains (1) summary
    cl25732
    Location:229600
    SMC_N; RecF/RecN/SMC N terminal domain
  10. XM_017019388.1XP_016874877.1  centrosomal protein of 83 kDa isoform X2

    Conserved Domains (2) summary
    cl25732
    Location:106477
    SMC_N; RecF/RecN/SMC N terminal domain
    cl27403
    Location:12175
    zf-RING_7; C4-type zinc ribbon domain
  11. XM_024449004.1XP_024304772.1  centrosomal protein of 83 kDa isoform X2

    Conserved Domains (2) summary
    cl25732
    Location:106477
    SMC_N; RecF/RecN/SMC N terminal domain
    cl27403
    Location:12175
    zf-RING_7; C4-type zinc ribbon domain

RNA

  1. XR_001748732.2 RNA Sequence

  2. XR_001748733.2 RNA Sequence

  3. XR_001748736.2 RNA Sequence

  4. XR_001748735.2 RNA Sequence

  5. XR_001748734.2 RNA Sequence

  6. XR_001748731.2 RNA Sequence

  7. XR_001748737.2 RNA Sequence

  8. XR_002957332.1 RNA Sequence

  9. XR_002957333.1 RNA Sequence

  10. XR_001748739.2 RNA Sequence

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