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CEP250 centrosomal protein 250 [ Homo sapiens (human) ]

Gene ID: 11190, updated on 13-Mar-2020

Summary

Official Symbol
CEP250provided by HGNC
Official Full Name
centrosomal protein 250provided by HGNC
Primary source
HGNC:HGNC:1859
See related
Ensembl:ENSG00000126001 MIM:609689
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CEP2; CNAP1; C-NAP1; CRDHL2
Summary
This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in testis (RPKM 6.5), spleen (RPKM 5.2) and 24 other tissues See more
Orthologs

Genomic context

See CEP250 in Genome Data Viewer
Location:
20q11.22
Exon count:
40
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (35455137..35519280)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34042988..34105360)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene GDF5 promoter region Neighboring gene growth differentiation factor 5 Neighboring gene microRNA 1289-1 Neighboring gene CEP250 antisense RNA 1 Neighboring gene chromosome 20 open reading frame 173 Neighboring gene ERGIC and golgi 3 Neighboring gene ribosomal protein L36 pseudogene 4

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?

Phenotypes

Associated conditions

Description Tests
Cone-rod dystrophy and hearing loss 2
MedGen: C5193051 OMIM: 618358 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC88542

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
centriole-centriole cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
detection of light stimulus involved in visual perception ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of centriole-centriole cohesion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
microtubule organizing center NAS
Non-traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
centrosome-associated protein CEP250
Names
250 kDa centrosomal protein
centrosomal Nek2-associated protein 1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_051604.1 RefSeqGene

    Range
    5265..61838
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318219.1NP_001305148.1  centrosome-associated protein CEP250 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF049105, AW083819, BC144706, FO393401
    UniProtKB/Swiss-Prot
    Q9BV73
    Conserved Domains (1) summary
    TIGR02168
    Location:158920
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  2. NM_007186.6NP_009117.2  centrosome-associated protein CEP250 isoform 1

    See identical proteins and their annotated locations for NP_009117.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    FO393401
    Consensus CDS
    CCDS13255.1
    UniProtKB/Swiss-Prot
    Q9BV73
    Related
    ENSP00000380661.1, ENST00000397527.6
    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    35455137..35519280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723690.4XP_006723753.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723753.1

    UniProtKB/Swiss-Prot
    Q9BV73
    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  2. XM_005260263.4XP_005260320.1  centrosome-associated protein CEP250 isoform X3

    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  3. XM_017027617.1XP_016883106.1  centrosome-associated protein CEP250 isoform X6

  4. XM_011528517.2XP_011526819.1  centrosome-associated protein CEP250 isoform X5

    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  5. XM_011528518.3XP_011526820.1  centrosome-associated protein CEP250 isoform X7

    Conserved Domains (4) summary
    COG1196
    Location:129934
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:6671429
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:481586
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:192
    Rootletin; Ciliary rootlet component, centrosome cohesion
  6. XM_005260262.4XP_005260319.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_005260319.1

    UniProtKB/Swiss-Prot
    Q9BV73
    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  7. XM_006723694.3XP_006723757.1  centrosome-associated protein CEP250 isoform X2

    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  8. XM_005260264.4XP_005260321.1  centrosome-associated protein CEP250 isoform X4

    Conserved Domains (3) summary
    COG1196
    Location:241980
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7131475
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  9. XM_006723692.4XP_006723755.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723755.1

    UniProtKB/Swiss-Prot
    Q9BV73
    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  10. XM_006723693.4XP_006723756.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723756.1

    UniProtKB/Swiss-Prot
    Q9BV73
    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  11. XM_006723691.1XP_006723754.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723754.1

    UniProtKB/Swiss-Prot
    Q9BV73
    Conserved Domains (4) summary
    COG1196
    Location:2521057
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:7901552
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:604709
    TIGR04376; TIGR04376 family protein
    pfam15035
    Location:40215
    Rootletin; Ciliary rootlet component, centrosome cohesion
  12. XM_011528519.2XP_011526821.1  centrosome-associated protein CEP250 isoform X8

    Conserved Domains (3) summary
    COG1196
    Location:50855
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:5881350
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04376
    Location:402507
    TIGR04376; TIGR04376 family protein
  13. XM_017027618.1XP_016883107.1  centrosome-associated protein CEP250 isoform X9

  14. XM_017027619.1XP_016883108.1  centrosome-associated protein CEP250 isoform X10

RNA

  1. XR_001754145.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001035518.1: Suppressed sequence

    Description
    NM_001035518.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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