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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
    NEW
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    Try the new Transcript table

    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
    Compare labs
    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)

    NEW Try the new Transcript table

    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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