Cep78 centrosomal protein 78 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep78provided by MGI
Official Full Name: centrosomal protein 78provided by MGI
Primary source: MGI:MGI:1924386
See related: Ensembl:ENSMUSG00000041491 AllianceGenome:MGI:1924386
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: D030027P05; 5730599I05Rik
Summary: Involved in cilium organization; flagellated sperm motility; and protein localization to cilium. Predicted to be located in cytoplasm. Predicted to be active in centriole; centrosome; and ciliary basal body. Is expressed in eye. Orthologous to human CEP78 (centrosomal protein 78). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 11.0), CNS E14 (RPKM 7.9) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 10.89 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (15933134..15962396, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (15955768..15985700, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
Title: Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
Title: Loss-of-function mutations in CEP78 cause male infertility in humans and mice.

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Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237899

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in cilium organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium organization	ISO Inferred from Sequence Orthology more info
involved_in cilium organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to centrosome	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in centriole	ISS Inferred from Sequence or Structural Similarity 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
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: centrosomal protein of 78 kDa

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_198019.2 → NP_932136.2 centrosomal protein of 78 kDa

See identical proteins and their annotated locations for NP_932136.2

Status: VALIDATED

Source sequence(s)

BC070400

Consensus CDS

CCDS29682.1

UniProtKB/Swiss-Prot

Q6IRU7

Related

ENSMUSP00000037596.8, ENSMUST00000047704.8

Conserved Domains (2) summary

cd00116
Location:113 → 299

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

cl03075
Location:431 → 498

GrpE; nucleotide exchange factor GrpE

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_000085.7 Reference GRCm39 C57BL/6J

Range

15933134..15962396 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526825.5 → XP_006526888.1 centrosomal protein of 78 kDa isoform X6

Conserved Domains (2) summary

cl03075
Location:431 → 498

GrpE; nucleotide exchange factor GrpE

cl39015
Location:113 → 299

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_006526823.3 → XP_006526886.1 centrosomal protein of 78 kDa isoform X1

Conserved Domains (1) summary

cl39015
Location:113 → 299

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_036161498.1 → XP_036017391.1 centrosomal protein of 78 kDa isoform X2

Conserved Domains (1) summary

cl39015
Location:113 → 299

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_006526826.5 → XP_006526889.1 centrosomal protein of 78 kDa isoform X5

Conserved Domains (2) summary

cl03075
Location:231 → 298

GrpE; nucleotide exchange factor GrpE

cl39015
Location:45 → 103

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_006526824.3 → XP_006526887.1 centrosomal protein of 78 kDa isoform X3

Conserved Domains (1) summary

cl39015
Location:113 → 299

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_017318106.3 → XP_017173595.1 centrosomal protein of 78 kDa isoform X4

UniProtKB/TrEMBL

A0A494BA29

Related

ENSMUSP00000157915.2, ENSMUST00000235718.2

Conserved Domains (2) summary

cl03075
Location:431 → 498

GrpE; nucleotide exchange factor GrpE

cl39015
Location:113 → 299

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
XM_030250838.2 → XP_030106698.1 centrosomal protein of 78 kDa isoform X7

Conserved Domains (2) summary

cl03075
Location:231 → 298

GrpE; nucleotide exchange factor GrpE

cl39015
Location:45 → 103

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...