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    CEP295 centrosomal protein 295 [ Homo sapiens (human) ]

    Gene ID: 85459, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CEP295provided by HGNC
    Official Full Name
    centrosomal protein 295provided by HGNC
    Primary source
    HGNC:HGNC:29366
    See related
    Ensembl:ENSG00000166004 MIM:617728; AllianceGenome:HGNC:29366
    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
    SCKL11; KIAA1731
    Summary
    Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytosol; microtubule cytoskeleton; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.8), lymph node (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP295 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93661682..93730358)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93578052..93648871)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93394848..93463524)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 223, pseudogene Neighboring gene N-6 adenine-specific DNA methyltransferase 1 (putative) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5397 Neighboring gene small Cajal body-specific RNA 9 Neighboring gene small nucleolar RNA, H/ACA box 25 Neighboring gene small nucleolar RNA, H/ACA box 32 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit D

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. Li N, et al. EBioMedicine, 2024 Jan. PMID 38154379, Free PMC Article
    2. Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women. Zhou J, et al. Pathol Res Pract, 2021 Sep. PMID 34418690
    3. Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion. Izquierdo D, et al. Cell Rep, 2014 Aug 21. PMID 25131205, Free PMC Article
    4. Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole. Tsuchiya Y, et al. Nat Commun, 2016 Aug 26. PMID 27562453, Free PMC Article
    5. ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits. Hearn T. J Mol Med (Berl), 2019 Jan. PMID 30421101, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
      Title: Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
    2. Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.
      Title: Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.
    3. Study shows that the interaction between Cep295 and Cep192 seems to be crucial for the integrity of centriole structure and also for daughter-to-mother centriole conversion.
      Title: Cep295 is a conserved scaffold protein required for generation of a bona fide mother centriole.
    4. our results indicate that CEP295 directly interacts with microtubules, and that excess CEP295 could induce the assembly of overly long centrioles. Furthermore, exogenous expression of the N-terminal domain of CEP295 exerts a dominant-negative effect on centriole elongation. Collectively, these findings suggest that CEP295 is essential for building the distal half centrioles and for post-translational modification of centr
      Title: CEP295 interacts with microtubules and is required for centriole elongation.
    5. A newborn centriole-enriched protein, KIAA1731/CEP295, specifically mediates centriole-to-centrosome conversion but dispensable for cartwheel removal.
      Title: Stabilization of cartwheel-less centrioles for duplication requires CEP295-mediated centriole-to-centrosome conversion.
    6. data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1.
      Title: Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.
    7. 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

    Associated conditions

    Description Tests
    Seckel syndrome 11
    MedGen: C5935595 OMIM: 620767 GeneReviews: Not available
    		not available

    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

    • FLJ40913, KIAA1731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of centriole elongation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of centrosome duplication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein acetylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitotic spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein of 295 kDa
    Names
    centriolar protein CEP295
    centrosomal protein 295kDa

    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_033395.2 → NP_203753.1  centrosomal protein of 295 kDa

      See identical proteins and their annotated locations for NP_203753.1

      Status: VALIDATED

      Source sequence(s)
      AA747565, AB051518, AK095859, AP001273, AP003499, DW414641
      Consensus CDS
      CCDS44708.1
      UniProtKB/Swiss-Prot
      C9J5H9, C9JQY8, Q8N7L4, Q8N919, Q8N9B0, Q96LT8, Q9C0D2
      Related
      ENSP00000316681.6, ENST00000325212.11
      Conserved Domains (1) summary
      pfam15309
      Location:2475 → 2599
      ALMS_motif; ALMS motif

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      93661682..93730358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543047.2 → XP_011541349.1  centrosomal protein of 295 kDa isoform X1

      Conserved Domains (1) summary
      pfam15309
      Location:2489 → 2603
      ALMS_motif; ALMS motif

    2. XM_005274366.2 → XP_005274423.1  centrosomal protein of 295 kDa isoform X5

      Conserved Domains (1) summary
      pfam15309
      Location:2489 → 2613
      ALMS_motif; ALMS motif

    3. XM_017018470.2 → XP_016873959.1  centrosomal protein of 295 kDa isoform X2

    4. XM_005274367.3 → XP_005274424.1  centrosomal protein of 295 kDa isoform X6

      Conserved Domains (1) summary
      pfam15309
      Location:2488 → 2612
      ALMS_motif; ALMS motif

    5. XM_011543049.2 → XP_011541351.1  centrosomal protein of 295 kDa isoform X7

      Conserved Domains (1) summary
      pfam15309
      Location:2441 → 2555
      ALMS_motif; ALMS motif

    6. XM_017018472.2 → XP_016873961.1  centrosomal protein of 295 kDa isoform X11

    7. XM_017018471.2 → XP_016873960.1  centrosomal protein of 295 kDa isoform X8

    8. XM_005274368.3 → XP_005274425.1  centrosomal protein of 295 kDa isoform X12

      Conserved Domains (1) summary
      pfam15309
      Location:2440 → 2564
      ALMS_motif; ALMS motif

    9. XM_011543048.2 → XP_011541350.1  centrosomal protein of 295 kDa isoform X3

      Conserved Domains (1) summary
      pfam15309
      Location:2476 → 2590
      ALMS_motif; ALMS motif

    10. XM_047427788.1 → XP_047283744.1  centrosomal protein of 295 kDa isoform X4

    11. XM_047427789.1 → XP_047283745.1  centrosomal protein of 295 kDa isoform X9

    12. XM_047427791.1 → XP_047283747.1  centrosomal protein of 295 kDa isoform X13

    13. XM_047427790.1 → XP_047283746.1  centrosomal protein of 295 kDa isoform X10

    14. XM_047427792.1 → XP_047283748.1  centrosomal protein of 295 kDa isoform X14

    15. XM_047427796.1 → XP_047283752.1  centrosomal protein of 295 kDa isoform X17

    16. XM_047427797.1 → XP_047283753.1  centrosomal protein of 295 kDa isoform X18

    17. XM_017018474.3 → XP_016873963.1  centrosomal protein of 295 kDa isoform X15

      Conserved Domains (1) summary
      pfam15309
      Location:2256 → 2370
      ALMS_motif; ALMS motif

    18. XM_047427794.1 → XP_047283750.1  centrosomal protein of 295 kDa isoform X15

    19. XM_047427795.1 → XP_047283751.1  centrosomal protein of 295 kDa isoform X16

    20. XM_011543053.3 → XP_011541355.1  centrosomal protein of 295 kDa isoform X16

      See identical proteins and their annotated locations for XP_011541355.1

      Conserved Domains (1) summary
      pfam15309
      Location:1977 → 2091
      ALMS_motif; ALMS motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      93578052..93648871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370333.1 → XP_054226308.1  centrosomal protein of 295 kDa isoform X1

    2. XM_054370334.1 → XP_054226309.1  centrosomal protein of 295 kDa isoform X2

    3. XM_054370339.1 → XP_054226314.1  centrosomal protein of 295 kDa isoform X7

    4. XM_054370340.1 → XP_054226315.1  centrosomal protein of 295 kDa isoform X8

    5. XM_054370335.1 → XP_054226310.1  centrosomal protein of 295 kDa isoform X3

    6. XM_054370336.1 → XP_054226311.1  centrosomal protein of 295 kDa isoform X4

    7. XM_054370341.1 → XP_054226316.1  centrosomal protein of 295 kDa isoform X9

    8. XM_054370342.1 → XP_054226317.1  centrosomal protein of 295 kDa isoform X10

    9. XM_054370337.1 → XP_054226312.1  centrosomal protein of 295 kDa isoform X5

    10. XM_054370338.1 → XP_054226313.1  centrosomal protein of 295 kDa isoform X6

    11. XM_054370343.1 → XP_054226318.1  centrosomal protein of 295 kDa isoform X11

    12. XM_054370344.1 → XP_054226319.1  centrosomal protein of 295 kDa isoform X12

    13. XM_054370345.1 → XP_054226320.1  centrosomal protein of 295 kDa isoform X13

    14. XM_054370346.1 → XP_054226321.1  centrosomal protein of 295 kDa isoform X14

    15. XM_054370351.1 → XP_054226326.1  centrosomal protein of 295 kDa isoform X17

    16. XM_054370352.1 → XP_054226327.1  centrosomal protein of 295 kDa isoform X18

    17. XM_054370347.1 → XP_054226322.1  centrosomal protein of 295 kDa isoform X15

    18. XM_054370348.1 → XP_054226323.1  centrosomal protein of 295 kDa isoform X15

    19. XM_054370350.1 → XP_054226325.1  centrosomal protein of 295 kDa isoform X16

    20. XM_054370349.1 → XP_054226324.1  centrosomal protein of 295 kDa isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0D2.4 GenPept UniProtKB/Swiss-Prot:Q9C0D2

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