Cep43 centrosomal protein 43 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep43provided by MGI
Official Full Name: centrosomal protein 43provided by MGI
Primary source: MGI:MGI:1922546
See related: Ensembl:ENSMUSG00000069135 AllianceGenome:MGI:1922546
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: FOP; Fgfr1op; 4930553O10Rik
Summary: Predicted to enable protein homodimerization activity; protein kinase binding activity; and protein tyrosine kinase inhibitor activity. Predicted to be involved in several processes, including negative regulation of protein kinase activity; positive regulation of cell growth; and positive regulation of cell migration. Predicted to act upstream of or within cell projection organization. Predicted to be located in centriole; nucleus; and perinuclear region of cytoplasm. Predicted to be active in centrosome. Is expressed in several structures, including intestine; lung; nervous system; renal tubule; and vibrissa follicle. Orthologous to human CEP43 (centrosomal protein 43). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 11.1), CNS E11.5 (RPKM 7.5) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A1; 17 4.88 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (8383976..8415309)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (8165143..8196477)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We show that Fop mutation perturbs ciliogenesis in vivo and that this leads to the alteration of the Hedgehog signaling pathway. Fop mutation reduces CSs movements and affects pericentriolar material composition, which probably participates to the ciliogenesis defect.
Title: Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.
expression of FOP-FGFR1 in primary bone marrow cells induced by retroviral transduction generates a myeloproliferative disease in mice
Title: FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Gene trapped (1)
Targeted (2)
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Fgfr1op (e-PCR), detects polymorphism
- UniSTS:526936

BB223044 (e-PCR)
- UniSTS:209262

BE623007 (e-PCR)
- UniSTS:209263

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in microtubule anchoring	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centriole	ISO Inferred from Sequence Orthology more info
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 cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in microtubule organizing center	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: centrosomal protein 43

Names: Fgfr1 oncogene partner

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)

NM_001197046.1 → NP_001183975.1 centrosomal protein 43 isoform 1

See identical proteins and their annotated locations for NP_001183975.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BB615739, BC108331

Consensus CDS

CCDS57045.1

UniProtKB/Swiss-Prot

Q32P17, Q66JX5, Q8BH91

Related

ENSMUSP00000095030.4, ENSMUST00000097419.10

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain
NM_201230.5 → NP_957682.1 centrosomal protein 43 isoform 2

See identical proteins and their annotated locations for NP_957682.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK016110, AK050389, BC108331

Consensus CDS

CCDS28380.1

UniProtKB/Swiss-Prot

Q66JX5

Related

ENSMUSP00000024636.9, ENSMUST00000024636.15

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

8383976..8415309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030250124.2 → XP_030105984.1 centrosomal protein 43 isoform X1

UniProtKB/Swiss-Prot

Q32P17, Q66JX5, Q8BH91

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain
XM_036160821.1 → XP_036016714.1 centrosomal protein 43 isoform X4
XM_006523357.3 → XP_006523420.1 centrosomal protein 43 isoform X2

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain
XM_030250125.1 → XP_030105985.1 centrosomal protein 43 isoform X3

Conserved Domains (1) summary

pfam09398
Location:54 → 134

FOP_dimer; FOP N terminal dimerization domain