Cep126 centrosomal protein 126 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep126provided by MGI
Official Full Name: centrosomal protein 126provided by MGI
Primary source: MGI:MGI:2680221
See related: Ensembl:ENSMUSG00000040729 AllianceGenome:MGI:2680221
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: mKIAA1377
Summary: Predicted to be involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Predicted to be located in cytoplasm. Predicted to be active in centrosome; ciliary base; and midbody. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and respiratory system. Orthologous to human CEP126 (centrosomal protein 126). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 14.5), cerebellum adult (RPKM 2.4) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A1; 9 2.46 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (8076461..8134473, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (8076460..8134479, complement)

Chromosome 9 - NC_000075.7 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?

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Results_ER_8_28_95_1__8.seq (e-PCR)
- UniSTS:125560

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 assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoplasmic microtubule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic microtubule organization	ISO Inferred from Sequence Orthology more info
involved_in cytoplasmic microtubule organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic spindle organization	ISO Inferred from Sequence Orthology more info
involved_in mitotic spindle organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: centrosomal protein of 126 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_001045524.2 → NP_001038989.1 centrosomal protein of 126 kDa isoform 1

See identical proteins and their annotated locations for NP_001038989.1

Status: VALIDATED

Description

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

Source sequence(s)

BB610143, BC120489

Consensus CDS

CCDS40534.1

UniProtKB/Swiss-Prot

Q0VBV7, Q6ZPS8

Related

ENSMUSP00000042904.7, ENSMUST00000037397.8

Conserved Domains (2) summary

pfam13863
Location:44 → 115

DUF4200; Domain of unknown function (DUF4200)

pfam15352
Location:100 → 1061

K1377; Susceptibility to monomelic amyotrophy
NM_001368148.1 → NP_001355077.1 centrosomal protein of 126 kDa isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC132355

Conserved Domains (1) summary

pfam15352
Location:1 → 866

K1377; Susceptibility to monomelic amyotrophy

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_000075.7 Reference GRCm39 C57BL/6J

Range

8076461..8134473 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006509862.5 → XP_006509925.1 centrosomal protein of 126 kDa isoform X1

Conserved Domains (2) summary

pfam13868
Location:46 → 105

TPH; Trichohyalin-plectin-homology domain

pfam15352
Location:100 → 1061

K1377; Susceptibility to monomelic amyotrophy
XM_030244275.2 → XP_030100135.1 centrosomal protein of 126 kDa isoform X3

Conserved Domains (1) summary

pfam15352
Location:1 → 867

K1377; Susceptibility to monomelic amyotrophy
XM_030244276.2 → XP_030100136.1 centrosomal protein of 126 kDa isoform X3

Conserved Domains (1) summary

pfam15352
Location:1 → 867

K1377; Susceptibility to monomelic amyotrophy
XM_036154858.1 → XP_036010751.1 centrosomal protein of 126 kDa isoform X5

Conserved Domains (1) summary

pfam15352
Location:1 → 866

K1377; Susceptibility to monomelic amyotrophy
XM_036154857.1 → XP_036010750.1 centrosomal protein of 126 kDa isoform X5

Conserved Domains (1) summary

pfam15352
Location:1 → 866

K1377; Susceptibility to monomelic amyotrophy
XM_036154856.1 → XP_036010749.1 centrosomal protein of 126 kDa isoform X4

Conserved Domains (1) summary

pfam15352
Location:1 → 866

K1377; Susceptibility to monomelic amyotrophy
XM_006509863.5 → XP_006509926.1 centrosomal protein of 126 kDa isoform X2

Conserved Domains (2) summary

pfam13868
Location:46 → 105

TPH; Trichohyalin-plectin-homology domain

pfam15352
Location:100 → 1061

K1377; Susceptibility to monomelic amyotrophy