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    CEP250 centrosomal protein 250 [ Homo sapiens (human) ]

    Gene ID: 11190, updated on 28-Oct-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
    Try the new Gene table
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35455165..35519280)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37175894..37240174)
    RS_2024_09 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 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_2024_08

    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.