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    Cep250 centrosomal protein 250 [ Mus musculus (house mouse) ]

    Gene ID: 16328, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cep250provided by MGI
    Official Full Name
    centrosomal protein 250provided by MGI
    Primary source
    MGI:MGI:108084
    See related
    Ensembl:ENSMUSG00000038241 AllianceGenome:MGI:108084
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cep2; Inmp; B230210E21Rik
    Summary
    Predicted to enable protein domain specific binding activity. Involved in detection of light stimulus involved in visual perception. Located in microtubule organizing center; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Used to study retinitis pigmentosa. Orthologous to human CEP250 (centrosomal protein 250). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 11.5), limb E14.5 (RPKM 7.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cep250 in Genome Data Viewer
    Location:
    2 H1; 2 77.26 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (155798197..155840820)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (155956285..155998900)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene predicted gene, 54125 Neighboring gene STARR-seq mESC enhancer starr_06151 Neighboring gene STARR-seq mESC enhancer starr_06152 Neighboring gene growth differentiation factor 5 Neighboring gene RIKEN cDNA 6430550D23 gene Neighboring gene predicted gene, 50621 Neighboring gene STARR-positive B cell enhancer ABC_E9074 Neighboring gene ERGIC and golgi 3 Neighboring gene fer-1 like family member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss. Kang M, et al. Cells, 2023 Sep 21. PMID 37759551, Free PMC Article
    2. Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice. Xiang L, et al. Invest Ophthalmol Vis Sci, 2023 Sep 1. PMID 37656476, Free PMC Article
    3. RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency. Chen C, et al. Int J Mol Sci, 2023 May 16. PMID 37240188, Free PMC Article
    4. Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice. Abu-Diab A, et al. Transl Vis Sci Technol, 2023 Mar 1. PMID 36857066, Free PMC Article
    5. INMP, a novel intranuclear matrix protein related to the family of intermediate filament-like proteins: molecular cloning and sequence analysis. Menz K, et al. Biochim Biophys Acta, 1996 Nov 11. PMID 8950169

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice.
      Title: Dysregulated Arginine Metabolism Is Linked to Retinal Degeneration in Cep250 Knockout Mice.
    2. RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
      Title: RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
    3. Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
      Title: Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
    4. CEP2 attenuates myoblast differentiation but does not affect proliferation.
      Title: CEP2 attenuates myoblast differentiation but does not affect proliferation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in centriole-centriole cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of centriole-centriole cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle pole centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosome-associated protein CEP250
    Names
    250 kDa centrosomal protein
    C-Nap1
    centrosomal Nek2-associated protein 1
    intranuclear matrix protein

    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_001129999.1 → NP_001123471.1  centrosome-associated protein CEP250 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site at one of the coding exons, and includes an additional in-frame segment compared to variant 1, resulting in a longer isoform (2) compared to isoform 1.
      Source sequence(s)
      AK045557, AL833786
      Consensus CDS
      CCDS50773.1
      UniProtKB/TrEMBL
      B2RWX5, E9Q5A8
      Related
      ENSMUSP00000038255.8, ENSMUST00000039994.14
      Conserved Domains (4) summary
      COG1196
      Location:474 → 1163
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1267 → 2069
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam01763
      Location:892 → 959
      Herpes_UL6; Herpesvirus UL6 like
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion

    2. NM_001130000.1 → NP_001123472.1  centrosome-associated protein CEP250 isoform 3

      See identical proteins and their annotated locations for NP_001123472.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and includes an additional in-frame segment compared to variant 1, resulting in a longer isoform (3) compared to isoform 1.
      Source sequence(s)
      AK145562, AL833786
      Consensus CDS
      CCDS50772.1
      UniProtKB/TrEMBL
      A3KGJ7, B2RWX5
      Related
      ENSMUSP00000105248.3, ENSMUST00000109619.9
      Conserved Domains (5) summary
      COG1196
      Location:475 → 1164
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1268 → 2070
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:228 → 507
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion
      pfam12128
      Location:1874 → 2420
      DUF3584; Protein of unknown function (DUF3584)

    3. NM_008383.3 → NP_032409.3  centrosome-associated protein CEP250 isoform 1

      See identical proteins and their annotated locations for NP_032409.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the shortest isoform (1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL833786
      Consensus CDS
      CCDS50771.1
      UniProtKB/Swiss-Prot
      E9QMB2, Q2I8G3, Q3UTR4, Q60952, Q6PFF6, Q8BLC6
      UniProtKB/TrEMBL
      B2RWX5
      Related
      ENSMUSP00000091988.5, ENSMUST00000094421.11
      Conserved Domains (4) summary
      COG1196
      Location:455 → 1143
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1247 → 2049
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam01763
      Location:872 → 939
      Herpes_UL6; Herpesvirus UL6 like
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion

    4. NM_177217.3 → NP_796191.2  centrosome-associated protein CEP250 isoform 1

      See identical proteins and their annotated locations for NP_796191.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL833786
      Consensus CDS
      CCDS50771.1
      UniProtKB/Swiss-Prot
      E9QMB2, Q2I8G3, Q3UTR4, Q60952, Q6PFF6, Q8BLC6
      UniProtKB/TrEMBL
      B2RWX5
      Conserved Domains (4) summary
      COG1196
      Location:455 → 1143
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1247 → 2049
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam01763
      Location:872 → 939
      Herpes_UL6; Herpesvirus UL6 like
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      155798197..155840820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498797.5 → XP_006498860.1  centrosome-associated protein CEP250 isoform X1

      See identical proteins and their annotated locations for XP_006498860.1

      UniProtKB/TrEMBL
      A3KGJ7, B2RWX5
      Conserved Domains (5) summary
      COG1196
      Location:475 → 1164
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1268 → 2070
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:228 → 507
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion
      pfam12128
      Location:1874 → 2420
      DUF3584; Protein of unknown function (DUF3584)

    2. XM_006498796.1 → XP_006498859.1  centrosome-associated protein CEP250 isoform X1

      See identical proteins and their annotated locations for XP_006498859.1

      UniProtKB/TrEMBL
      A3KGJ7, B2RWX5
      Conserved Domains (5) summary
      COG1196
      Location:475 → 1164
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1268 → 2070
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:228 → 507
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion
      pfam12128
      Location:1874 → 2420
      DUF3584; Protein of unknown function (DUF3584)

    3. XM_006498798.1 → XP_006498861.1  centrosome-associated protein CEP250 isoform X2

      UniProtKB/TrEMBL
      B2RWX5
      Conserved Domains (5) summary
      COG1196
      Location:475 → 1164
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1268 → 2070
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:228 → 507
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam15035
      Location:39 → 214
      Rootletin; Ciliary rootlet component, centrosome cohesion
      pfam17380
      Location:1942 → 2265
      DUF5401; Family of unknown function (DUF5401)

    4. XM_030247663.2 → XP_030103523.1  centrosome-associated protein CEP250 isoform X3

      UniProtKB/TrEMBL
      B2RWX5
      Conserved Domains (4) summary
      COG1196
      Location:283 → 972
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1076 → 1878
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:36 → 315
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam12128
      Location:1682 → 2228
      DUF3584; Protein of unknown function (DUF3584)

    5. XM_030247667.2 → XP_030103527.1  centrosome-associated protein CEP250 isoform X3

      UniProtKB/TrEMBL
      B2RWX5
      Conserved Domains (4) summary
      COG1196
      Location:283 → 972
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1076 → 1878
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:36 → 315
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam12128
      Location:1682 → 2228
      DUF3584; Protein of unknown function (DUF3584)

    6. XM_030247666.2 → XP_030103526.1  centrosome-associated protein CEP250 isoform X3

      UniProtKB/TrEMBL
      B2RWX5
      Conserved Domains (4) summary
      COG1196
      Location:283 → 972
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1076 → 1878
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR02169
      Location:36 → 315
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
      pfam12128
      Location:1682 → 2228
      DUF3584; Protein of unknown function (DUF3584)

    7. XM_036158613.1 → XP_036014506.1  centrosome-associated protein CEP250 isoform X5

      Conserved Domains (2) summary
      PRK11281
      Location:1006 → 1302
      PRK11281; mechanosensitive channel MscK
      TIGR02168
      Location:349 → 1151
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    8. XM_036158623.1 → XP_036014516.1  centrosome-associated protein CEP250 isoform X5

      Conserved Domains (2) summary
      PRK11281
      Location:1006 → 1302
      PRK11281; mechanosensitive channel MscK
      TIGR02168
      Location:349 → 1151
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    9. XM_006498802.4 → XP_006498865.1  centrosome-associated protein CEP250 isoform X4

      Related
      ENSMUST00000148191.2
      Conserved Domains (2) summary
      TIGR02168
      Location:446 → 1248
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam12128
      Location:1052 → 1598
      DUF3584; Protein of unknown function (DUF3584)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q60952.4 GenPept UniProtKB/Swiss-Prot:Q60952

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