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    CEP95 centrosomal protein 95 [ Homo sapiens (human) ]

    Gene ID: 90799, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CEP95provided by HGNC
    Official Full Name
    centrosomal protein 95provided by HGNC
    Primary source
    HGNC:HGNC:25141
    See related
    Ensembl:ENSG00000258890 AllianceGenome:HGNC:25141
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCDC45
    Summary
    Located in centrosome and spindle pole. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.3), bone marrow (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP95 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64506762..64537946)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65376722..65407705)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62503095..62534064)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12597 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62503269-62503885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12598 Neighboring gene microRNA 3064 Neighboring gene microRNA 5047 Neighboring gene DEAD-box helicase 5 Neighboring gene SMAD specific E3 ubiquitin protein ligase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:62658719-62659277 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:62702502-62703701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12600 Neighboring gene MICOS10 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. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
    2. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. Jakobsen L, et al. EMBO J, 2011 Apr 20. PMID 21399614, Free PMC Article
    3. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, et al. Sci Data, 2018 Dec 18. PMID 30561431, Free PMC Article
    4. A protein interaction framework for human mRNA degradation. Lehner B, et al. Genome Res, 2004 Jul. PMID 15231747, Free PMC Article
    5. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp667E1824

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 95 kDa
    Names
    centrosomal protein 95kDa
    coiled-coil domain containing 45
    coiled-coil domain-containing protein 45

    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_001316990.2 → NP_001303919.1  centrosomal protein of 95 kDa isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1, that causes translation initiation at a downstream AUG. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK297409, BC009518, BP357015
      UniProtKB/TrEMBL
      Q5JPF7
      Conserved Domains (1) summary
      cl23720
      Location:540 → 644
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    2. NM_138363.3 → NP_612372.1  centrosomal protein of 95 kDa isoform 1

      See identical proteins and their annotated locations for NP_612372.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC009518, BP357015
      Consensus CDS
      CCDS45763.1
      UniProtKB/Swiss-Prot
      B4DMD2, Q96GE4, Q96M81
      UniProtKB/TrEMBL
      A8K3H2
      Related
      ENSP00000450461.2, ENST00000556440.7
      Conserved Domains (2) summary
      cl00030
      Location:7 → 97
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cl25732
      Location:592 → 808
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_133644.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice junctions compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL832822, BC009518, BP357015
      Related
      ENST00000553956.6

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      64506762..64537946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437012.1 → XP_047292968.1  centrosomal protein of 95 kDa isoform X1

    2. XM_047437013.1 → XP_047292969.1  centrosomal protein of 95 kDa isoform X2

    3. XM_047437015.1 → XP_047292971.1  centrosomal protein of 95 kDa isoform X6

    4. XM_047437017.1 → XP_047292973.1  centrosomal protein of 95 kDa isoform X8

    5. XM_005257779.4 → XP_005257836.1  centrosomal protein of 95 kDa isoform X3

      UniProtKB/TrEMBL
      A8K3H2
      Conserved Domains (1) summary
      pfam13868
      Location:584 → 771
      TPH; Trichohyalin-plectin-homology domain

    6. XM_047437016.1 → XP_047292972.1  centrosomal protein of 95 kDa isoform X7

    7. XM_047437014.1 → XP_047292970.1  centrosomal protein of 95 kDa isoform X4

    8. XM_017025288.3 → XP_016880777.1  centrosomal protein of 95 kDa isoform X5

      Conserved Domains (1) summary
      TIGR02168
      Location:375 → 549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RNA

    1. XR_007065529.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      65376722..65407705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317711.1 → XP_054173686.1  centrosomal protein of 95 kDa isoform X1

    2. XM_054317712.1 → XP_054173687.1  centrosomal protein of 95 kDa isoform X2

    3. XM_054317716.1 → XP_054173691.1  centrosomal protein of 95 kDa isoform X6

    4. XM_054317718.1 → XP_054173693.1  centrosomal protein of 95 kDa isoform X8

    5. XM_054317713.1 → XP_054173688.1  centrosomal protein of 95 kDa isoform X3

    6. XM_054317717.1 → XP_054173692.1  centrosomal protein of 95 kDa isoform X7

    7. XM_054317714.1 → XP_054173689.1  centrosomal protein of 95 kDa isoform X4

    8. XM_054317715.1 → XP_054173690.1  centrosomal protein of 95 kDa isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GE4.1 GenPept UniProtKB/Swiss-Prot:Q96GE4

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