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

Gene ID: 16328, updated on 12-May-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001129999.1NP_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:4741163
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12672069
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam01763
    Location:892959
    Herpes_UL6; Herpesvirus UL6 like
    pfam15035
    Location:39214
    Rootletin; Ciliary rootlet component, centrosome cohesion
  2. NM_001130000.1NP_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:4751164
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12682070
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:228507
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam15035
    Location:39214
    Rootletin; Ciliary rootlet component, centrosome cohesion
    pfam12128
    Location:18742420
    DUF3584; Protein of unknown function (DUF3584)
  3. NM_008383.3NP_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:4551143
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12472049
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam01763
    Location:872939
    Herpes_UL6; Herpesvirus UL6 like
    pfam15035
    Location:39214
    Rootletin; Ciliary rootlet component, centrosome cohesion
  4. NM_177217.3NP_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:4551143
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12472049
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam01763
    Location:872939
    Herpes_UL6; Herpesvirus UL6 like
    pfam15035
    Location:39214
    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_006498797.5XP_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:4751164
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12682070
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:228507
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam15035
    Location:39214
    Rootletin; Ciliary rootlet component, centrosome cohesion
    pfam12128
    Location:18742420
    DUF3584; Protein of unknown function (DUF3584)
  2. XM_006498796.1XP_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:4751164
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12682070
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:228507
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam15035
    Location:39214
    Rootletin; Ciliary rootlet component, centrosome cohesion
    pfam12128
    Location:18742420
    DUF3584; Protein of unknown function (DUF3584)
  3. XM_006498798.1XP_006498861.1  centrosome-associated protein CEP250 isoform X2

    UniProtKB/TrEMBL
    B2RWX5
    Conserved Domains (5) summary
    COG1196
    Location:4751164
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:12682070
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:228507
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam15035
    Location:39214
    Rootletin; Ciliary rootlet component, centrosome cohesion
    pfam17380
    Location:19422265
    DUF5401; Family of unknown function (DUF5401)
  4. XM_030247663.2XP_030103523.1  centrosome-associated protein CEP250 isoform X3

    UniProtKB/TrEMBL
    B2RWX5
    Conserved Domains (4) summary
    COG1196
    Location:283972
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:10761878
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:36315
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam12128
    Location:16822228
    DUF3584; Protein of unknown function (DUF3584)
  5. XM_030247667.2XP_030103527.1  centrosome-associated protein CEP250 isoform X3

    UniProtKB/TrEMBL
    B2RWX5
    Conserved Domains (4) summary
    COG1196
    Location:283972
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:10761878
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:36315
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam12128
    Location:16822228
    DUF3584; Protein of unknown function (DUF3584)
  6. XM_030247666.2XP_030103526.1  centrosome-associated protein CEP250 isoform X3

    UniProtKB/TrEMBL
    B2RWX5
    Conserved Domains (4) summary
    COG1196
    Location:283972
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:10761878
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR02169
    Location:36315
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam12128
    Location:16822228
    DUF3584; Protein of unknown function (DUF3584)
  7. XM_036158613.1XP_036014506.1  centrosome-associated protein CEP250 isoform X5

    Conserved Domains (2) summary
    PRK11281
    Location:10061302
    PRK11281; mechanosensitive channel MscK
    TIGR02168
    Location:3491151
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  8. XM_036158623.1XP_036014516.1  centrosome-associated protein CEP250 isoform X5

    Conserved Domains (2) summary
    PRK11281
    Location:10061302
    PRK11281; mechanosensitive channel MscK
    TIGR02168
    Location:3491151
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  9. XM_006498802.4XP_006498865.1  centrosome-associated protein CEP250 isoform X4

    Related
    ENSMUST00000148191.2
    Conserved Domains (2) summary
    TIGR02168
    Location:4461248
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam12128
    Location:10521598
    DUF3584; Protein of unknown function (DUF3584)