CEP295 centrosomal protein 295 [Homo sapiens (human)] - Gene

Summary

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, Apr 2022]
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

Location:: 11q21

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (93661682..93730358)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (93578052..93648871)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (93394848..93463524)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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: CN377239 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

RH35 (e-PCR)
- UniSTS:83775

RH48903 (e-PCR)
- UniSTS:39561

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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)

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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

93661682..93730358

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_017018470.2 → XP_016873959.1 centrosomal protein of 295 kDa isoform X2
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
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
XM_017018472.2 → XP_016873961.1 centrosomal protein of 295 kDa isoform X11
XM_017018471.2 → XP_016873960.1 centrosomal protein of 295 kDa isoform X8
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
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
XM_047427788.1 → XP_047283744.1 centrosomal protein of 295 kDa isoform X4
XM_047427789.1 → XP_047283745.1 centrosomal protein of 295 kDa isoform X9
XM_047427791.1 → XP_047283747.1 centrosomal protein of 295 kDa isoform X13
XM_047427790.1 → XP_047283746.1 centrosomal protein of 295 kDa isoform X10
XM_047427792.1 → XP_047283748.1 centrosomal protein of 295 kDa isoform X14
XM_047427796.1 → XP_047283752.1 centrosomal protein of 295 kDa isoform X17
XM_047427797.1 → XP_047283753.1 centrosomal protein of 295 kDa isoform X18
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
XM_047427794.1 → XP_047283750.1 centrosomal protein of 295 kDa isoform X15
XM_047427795.1 → XP_047283751.1 centrosomal protein of 295 kDa isoform X16
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