Cep131 centrosomal protein 131 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep131provided by MGI
Official Full Name: centrosomal protein 131provided by MGI
Primary source: MGI:MGI:107440
See related: Ensembl:ENSMUSG00000039781 AllianceGenome:MGI:107440
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AZ1; Azi; Azi1
Summary: The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]
Expression: Broad expression in adrenal adult (RPKM 12.1), CNS E11.5 (RPKM 12.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 83.96 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (119955247..119977684, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (120064429..120086865, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Submit: New GeneRIF Correction

Variation

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Alleles

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

Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex 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 differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intraciliary transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport involved in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intramanchette transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within manchette assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in protein localization to centrosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of centrosome duplication	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of centrosome duplication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
colocalizes_with centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary transition zone	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in sperm head-tail coupling apparatus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: centrosomal protein of 131 kDa

Names: 5-azacytidine induced gene 1; 5-azacytidine-induced protein 1; pre-acrosome localization protein 1

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_001403706.1 → NP_001390635.1 centrosomal protein of 131 kDa isoform 1

Status: REVIEWED

Source sequence(s)

AL807824

UniProtKB/TrEMBL

B1AXI9
NM_001403734.1 → NP_001390663.1 centrosomal protein of 131 kDa isoform 2

Status: REVIEWED

Source sequence(s)

AL807824
NM_009734.4 → NP_033864.3 centrosomal protein of 131 kDa isoform 1

See identical proteins and their annotated locations for NP_033864.3

Status: REVIEWED

Source sequence(s)

AL807824

Consensus CDS

CCDS36386.2

UniProtKB/Swiss-Prot

B1AXJ0, Q62036

UniProtKB/TrEMBL

B1AXI9, J3QMP9

Related

ENSMUSP00000101834.2, ENSMUST00000106227.8

Conserved Domains (2) summary

PHA03252
Location:877 → 938

PHA03252; DNA packaging tegument protein UL25; Provisional

cl19219
Location:717 → 806

DUF342; Protein of unknown function (DUF342)