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CEP295 centrosomal protein 295 [ Homo sapiens (human) ]

Gene ID: 85459, updated on 4-Jul-2021

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
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
KIAA1731
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

See CEP295 in Genome Data Viewer
Location:
11q21
Exon count:
32
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (93661682..93730381)
105.20201022 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 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40913, KIAA1731

Gene Ontology Provided by GOA

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

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_033395.2NP_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
    Q9C0D2
    Related
    ENSP00000316681.6, ENST00000325212.11
    Conserved Domains (1) summary
    pfam15309
    Location:24752599
    ALMS_motif; ALMS motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    93661682..93730381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018470.1XP_016873959.1  centrosomal protein of 295 kDa isoform X2

  2. XM_017018471.1XP_016873960.1  centrosomal protein of 295 kDa isoform X7

  3. XM_011543047.1XP_011541349.1  centrosomal protein of 295 kDa isoform X1

    Conserved Domains (1) summary
    pfam15309
    Location:24892603
    ALMS_motif; ALMS motif
  4. XM_005274366.1XP_005274423.1  centrosomal protein of 295 kDa isoform X4

    Conserved Domains (1) summary
    pfam15309
    Location:24892613
    ALMS_motif; ALMS motif
  5. XM_011543049.1XP_011541351.1  centrosomal protein of 295 kDa isoform X6

    Conserved Domains (1) summary
    pfam15309
    Location:24412555
    ALMS_motif; ALMS motif
  6. XM_017018472.1XP_016873961.1  centrosomal protein of 295 kDa isoform X8

  7. XM_011543048.1XP_011541350.1  centrosomal protein of 295 kDa isoform X3

    Conserved Domains (1) summary
    pfam15309
    Location:24762590
    ALMS_motif; ALMS motif
  8. XM_005274367.2XP_005274424.1  centrosomal protein of 295 kDa isoform X5

    Conserved Domains (1) summary
    pfam15309
    Location:24882612
    ALMS_motif; ALMS motif
  9. XM_005274368.2XP_005274425.1  centrosomal protein of 295 kDa isoform X9

    Conserved Domains (1) summary
    pfam15309
    Location:24402564
    ALMS_motif; ALMS motif
  10. XM_017018473.1XP_016873962.1  centrosomal protein of 295 kDa isoform X10

    Conserved Domains (1) summary
    pfam15309
    Location:22562370
    ALMS_motif; ALMS motif
  11. XM_017018475.1XP_016873964.1  centrosomal protein of 295 kDa isoform X11

  12. XM_024448744.1XP_024304512.1  centrosomal protein of 295 kDa isoform X12

    Conserved Domains (1) summary
    pfam15309
    Location:19772091
    ALMS_motif; ALMS motif
  13. XM_011543050.2XP_011541352.1  centrosomal protein of 295 kDa isoform X10

    See identical proteins and their annotated locations for XP_011541352.1

    Conserved Domains (1) summary
    pfam15309
    Location:22562370
    ALMS_motif; ALMS motif
  14. XM_017018474.2XP_016873963.1  centrosomal protein of 295 kDa isoform X10

    Conserved Domains (1) summary
    pfam15309
    Location:22562370
    ALMS_motif; ALMS motif
  15. XM_017018476.1XP_016873965.1  centrosomal protein of 295 kDa isoform X13

  16. XM_011543053.2XP_011541355.1  centrosomal protein of 295 kDa isoform X12

    See identical proteins and their annotated locations for XP_011541355.1

    Conserved Domains (1) summary
    pfam15309
    Location:19772091
    ALMS_motif; ALMS motif

RNA

  1. XR_001748020.1 RNA Sequence

  2. XR_001748019.1 RNA Sequence

  3. XR_001748021.1 RNA Sequence

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