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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
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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: 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. 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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