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    CEP85 centrosomal protein 85 [ Homo sapiens (human) ]

    Gene ID: 64793, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CEP85provided by HGNC
    Official Full Name
    centrosomal protein 85provided by HGNC
    Primary source
    HGNC:HGNC:25309
    See related
    Ensembl:ENSG00000130695 MIM:618898; AllianceGenome:HGNC:25309
    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
    CCDC21
    Summary
    This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Broad expression in testis (RPKM 23.4), heart (RPKM 8.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP85 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26234200..26278808)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26071614..26116296)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26560691..26605299)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26551137-26551642 Neighboring gene uncharacterized LOC124903882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26551643-26552147 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26556108-26556276 Neighboring gene zona pellucida like domain containing 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 485 Neighboring gene uncharacterized LOC124904684 Neighboring gene MPRA-validated peak133 silencer Neighboring gene mitochondrial ribosomal protein S6 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:26602348-26603547 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26606098-26606985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26606986-26607872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26610368-26610958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 487 Neighboring gene SH3 domain binding glutamate rich protein like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26616244-26617056 Neighboring gene UBX domain protein 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26617057-26617870 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:26629035-26630234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 493 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26644239-26644431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 495 Neighboring gene CD52 molecule

    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. Direct interaction between CEP85 and STIL mediates PLK4-driven directed cell migration. Liu Y, et al. J Cell Sci, 2020 Apr 23. PMID 32107292, Free PMC Article
    2. Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly. Liu Y, et al. Nat Commun, 2018 Apr 30. PMID 29712910, Free PMC Article
    3. Characterization of Cep85 - a new antagonist of Nek2A that is involved in the regulation of centrosome disjunction. Chen C, et al. J Cell Sci, 2015 Sep 1. PMID 26220856, Free PMC Article
    4. CEP192 interacts physically and functionally with the K63-deubiquitinase CYLD to promote mitotic spindle assembly. Gomez-Ferreria MA, et al. Cell Cycle, 2012 Oct 1. PMID 22895009, Free PMC Article
    5. A chemical tool for blue light-inducible proximity photo-crosslinking in live cells. Mishra PK, et al. Chem Sci, 2022 Jan 26. PMID 35211260, Free PMC Article

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Direct interaction between CEP85 and STIL mediates PLK4-driven directed cell migration.
      Title: Direct interaction between CEP85 and STIL mediates PLK4-driven directed cell migration.
    2. Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly.
      Title: Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly.
    3. Cep85 is a bona fide Nek2A-binding partner that surrounds the proximal ends of centrioles where it cooperates with PP1gamma (also known as PPP1CC) to antagonize Nek2A
      Title: Characterization of Cep85 - a new antagonist of Nek2A that is involved in the regulation of centrosome disjunction.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of centrosomal protein 85kDa (CEP85) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13976, FLJ22000, DKFZp434P232, DKFZp434L0117

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centriole assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic centrosome separation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cell cortex IDA
    Inferred from Direct Assay
    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
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 85 kDa
    Names
    centrosomal protein 85kDa
    coiled-coil domain-containing protein 21

    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.

    mRNA and Protein(s)

    1. NM_001281517.3 → NP_001268446.1  centrosomal protein of 85 kDa isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AK025653, AK299312, BC064528, DB079544
      Consensus CDS
      CCDS60038.1
      UniProtKB/Swiss-Prot
      Q6P2H3
      Related
      ENSP00000492362.2, ENST00000640292.2
      Conserved Domains (2) summary
      cl02488
      Location:360 → 541
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl23720
      Location:486 → 604
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. NM_001281518.3 → NP_001268447.1  centrosomal protein of 85 kDa isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR, lacks several exons in the 5' coding region, contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK025653, AL451139, BC019902, BC064528, DA666742
      UniProtKB/Swiss-Prot
      Q6P2H3
      Related
      ENST00000469609.5
      Conserved Domains (1) summary
      TIGR04211
      Location:5 → 87
      SH3_and_anchor; SH3 domain protein

    3. NM_001319944.2 → NP_001306873.1  centrosomal protein of 85 kDa isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AK024038, AK025653, AK299312, BC064528, DB079544
      Consensus CDS
      CCDS81285.1
      UniProtKB/Swiss-Prot
      Q6P2H3
      Related
      ENSP00000417002.3, ENST00000451429.8
      Conserved Domains (3) summary
      pfam05010
      Location:436 → 642
      TACC; Transforming acidic coiled-coil-containing protein (TACC)
      cl02488
      Location:411 → 592
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl23720
      Location:537 → 655
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    4. NM_022778.5 → NP_073615.2  centrosomal protein of 85 kDa isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK025653, BC064528, DB079544
      Consensus CDS
      CCDS277.1
      UniProtKB/Swiss-Prot
      B4DRL1, D3DPK4, F8W7K4, Q5VY68, Q5VY70, Q6P2H3, Q9H6Q1, Q9H828, Q9UF52
      Related
      ENSP00000252992.4, ENST00000252992.8
      Conserved Domains (2) summary
      pfam09726
      Location:124 → 543
      Macoilin; Transmembrane protein
      cl25732
      Location:382 → 657
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      26234200..26278808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428051.1 → XP_047284007.1  centrosomal protein of 85 kDa isoform X2

    2. XM_017002105.3 → XP_016857594.1  centrosomal protein of 85 kDa isoform X3

    3. XM_024449200.2 → XP_024304968.1  centrosomal protein of 85 kDa isoform X1

      UniProtKB/Swiss-Prot
      B4DRL1, D3DPK4, F8W7K4, Q5VY68, Q5VY70, Q6P2H3, Q9H6Q1, Q9H828, Q9UF52
      Conserved Domains (2) summary
      pfam09726
      Location:124 → 543
      Macoilin; Transmembrane protein
      cl25732
      Location:382 → 657
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_047428052.1 → XP_047284008.1  centrosomal protein of 85 kDa isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      26071614..26116296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338304.1 → XP_054194279.1  centrosomal protein of 85 kDa isoform X2

    2. XM_054338305.1 → XP_054194280.1  centrosomal protein of 85 kDa isoform X3

    3. XM_054338303.1 → XP_054194278.1  centrosomal protein of 85 kDa isoform X1

      UniProtKB/Swiss-Prot
      B4DRL1, D3DPK4, F8W7K4, Q5VY68, Q5VY70, Q6P2H3, Q9H6Q1, Q9H828, Q9UF52

    4. XM_054338306.1 → XP_054194281.1  centrosomal protein of 85 kDa isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P2H3.1 GenPept UniProtKB/Swiss-Prot:Q6P2H3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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