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

Gene ID: 16328, updated on 5-Mar-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 C-terminus binding activity; protein domain specific binding activity; and protein kinase 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; hemolymphoid system gland; reproductive system; and sensory organ. Used to study retinitis pigmentosa. Orthologous to human CEP250 (centrosomal protein 250). [provided by Alliance of Genome Resources, Apr 2022]
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. 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
  2. CEP250 is Required for Maintaining Centrosome Cohesion in the Germline and Fertility in Male Mice. Floriot S, et al. Front Cell Dev Biol, 2021. PMID 35127699, Free PMC Article
  3. CEP2 attenuates myoblast differentiation but does not affect proliferation. Wu M, et al. Int J Biol Sci, 2015. PMID 25552934, Free PMC Article
  4. 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
  5. Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Huang XF, et al. Hum Mutat, 2019 Aug. PMID 30998843

See all (30) 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
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
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 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 non-motile cilium assembly 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 cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
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 cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton 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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