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CEP250 centrosomal protein 250 [ Homo sapiens (human) ]

Gene ID: 11190, updated on 3-Apr-2024

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; AllianceGenome:HGNC:1859
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
NEW
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Try the new Transcript table

Genomic context

See CEP250 in Genome Data Viewer
Location:
20q11.22
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35455165..35519280)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37175894..37240174)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34043419..34107108)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene GDF5 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12857 Neighboring gene GDF5 antisense RNA 1 Neighboring gene growth differentiation factor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12858 Neighboring gene microRNA 1289-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12859 Neighboring gene CEP250 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17785 Neighboring gene chromosome 20 open reading frame 173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17786 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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC88542

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
 
colocalizes_with centriole IDA
Inferred from Direct Assay
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
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in microtubule organizing center NAS
Non-traceable Author Statement
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of 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)

NEW Try the new Transcript table

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_051604.2 RefSeqGene

    Range
    5435..69117
    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
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
    UniProtKB/TrEMBL
    A0A9L9PXX3
    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: 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

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    35455165..35519280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723691.2XP_006723754.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723754.1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
    UniProtKB/TrEMBL
    A0A9L9PXX3
    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_047439854.1XP_047295810.1  centrosome-associated protein CEP250 isoform X2

  3. XM_005260262.5XP_005260319.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_005260319.1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
    UniProtKB/TrEMBL
    A0A9L9PXX3
    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
  4. XM_005260264.5XP_005260321.1  centrosome-associated protein CEP250 isoform X4

    UniProtKB/TrEMBL
    A0A9L9PXX3
    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
  5. XM_047439862.1XP_047295818.1  centrosome-associated protein CEP250 isoform X7

  6. XM_006723692.5XP_006723755.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723755.1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
    UniProtKB/TrEMBL
    A0A9L9PXX3
    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_047439859.1XP_047295815.1  centrosome-associated protein CEP250 isoform X4

  8. XM_006723690.5XP_006723753.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723753.1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
    UniProtKB/TrEMBL
    A0A9L9PXX3
    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
  9. XM_047439853.1XP_047295809.1  centrosome-associated protein CEP250 isoform X2

  10. XM_047439857.1XP_047295813.1  centrosome-associated protein CEP250 isoform X4

  11. XM_006723693.5XP_006723756.1  centrosome-associated protein CEP250 isoform X1

    See identical proteins and their annotated locations for XP_006723756.1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
    UniProtKB/TrEMBL
    A0A9L9PXX3
    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_047439860.1XP_047295816.1  centrosome-associated protein CEP250 isoform X4

  13. XM_005260263.5XP_005260320.1  centrosome-associated protein CEP250 isoform X3

    UniProtKB/TrEMBL
    A0A9L9PXZ7
    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
  14. XM_047439863.1XP_047295819.1  centrosome-associated protein CEP250 isoform X9

  15. XM_017027617.2XP_016883106.1  centrosome-associated protein CEP250 isoform X6

    UniProtKB/TrEMBL
    A0A9L9PXD2, A0A9L9PXZ7
    Related
    ENSP00000516578.1, ENST00000706830.1
  16. XM_047439856.1XP_047295812.1  centrosome-associated protein CEP250 isoform X3

  17. XM_047439861.1XP_047295817.1  centrosome-associated protein CEP250 isoform X5

  18. XM_047439864.1XP_047295820.1  centrosome-associated protein CEP250 isoform X13

  19. XM_047439858.1XP_047295814.1  centrosome-associated protein CEP250 isoform X4

  20. XM_047439855.1XP_047295811.1  centrosome-associated protein CEP250 isoform X3

    Related
    ENSP00000516577.1, ENST00000706829.1
  21. XM_011528518.4XP_011526820.1  centrosome-associated protein CEP250 isoform X8

    UniProtKB/TrEMBL
    A0A9L9PXX3
    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
  22. XM_011528519.3XP_011526821.1  centrosome-associated protein CEP250 isoform X10

    UniProtKB/TrEMBL
    A0A9L9PXX3
    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
  23. XM_017027618.2XP_016883107.1  centrosome-associated protein CEP250 isoform X11

    UniProtKB/TrEMBL
    A0A9L9PXX3
  24. XM_017027619.2XP_016883108.1  centrosome-associated protein CEP250 isoform X12

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    37175894..37240174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322887.1XP_054178862.1  centrosome-associated protein CEP250 isoform X1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
  2. XM_054322894.1XP_054178869.1  centrosome-associated protein CEP250 isoform X3

  3. XM_054322906.1XP_054178881.1  centrosome-associated protein CEP250 isoform X9

  4. XM_054322903.1XP_054178878.1  centrosome-associated protein CEP250 isoform X6

    UniProtKB/TrEMBL
    A0A9L9PXD2
  5. XM_054322910.1XP_054178885.1  centrosome-associated protein CEP250 isoform X13

  6. XM_054322901.1XP_054178876.1  centrosome-associated protein CEP250 isoform X4

  7. XM_054322891.1XP_054178866.1  centrosome-associated protein CEP250 isoform X1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
  8. XM_054322890.1XP_054178865.1  centrosome-associated protein CEP250 isoform X1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
  9. XM_054322902.1XP_054178877.1  centrosome-associated protein CEP250 isoform X5

  10. XM_054322892.1XP_054178867.1  centrosome-associated protein CEP250 isoform X2

  11. XM_054322897.1XP_054178872.1  centrosome-associated protein CEP250 isoform X4

  12. XM_054322904.1XP_054178879.1  centrosome-associated protein CEP250 isoform X7

  13. XM_054322896.1XP_054178871.1  centrosome-associated protein CEP250 isoform X3

  14. XM_054322899.1XP_054178874.1  centrosome-associated protein CEP250 isoform X4

  15. XM_054322889.1XP_054178864.1  centrosome-associated protein CEP250 isoform X1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
  16. XM_054322900.1XP_054178875.1  centrosome-associated protein CEP250 isoform X4

  17. XM_054322888.1XP_054178863.1  centrosome-associated protein CEP250 isoform X1

    UniProtKB/Swiss-Prot
    E1P5Q3, O14812, O60588, Q9BV73, Q9H450
  18. XM_054322893.1XP_054178868.1  centrosome-associated protein CEP250 isoform X2

  19. XM_054322895.1XP_054178870.1  centrosome-associated protein CEP250 isoform X3

  20. XM_054322898.1XP_054178873.1  centrosome-associated protein CEP250 isoform X4

  21. XM_054322905.1XP_054178880.1  centrosome-associated protein CEP250 isoform X8

  22. XM_054322907.1XP_054178882.1  centrosome-associated protein CEP250 isoform X10

  23. XM_054322908.1XP_054178883.1  centrosome-associated protein CEP250 isoform X11

  24. XM_054322909.1XP_054178884.1  centrosome-associated protein CEP250 isoform X12

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.