Cep41 centrosomal protein 41 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cep41provided by MGI
Official Full Name: centrosomal protein 41provided by MGI
Primary source: MGI:MGI:1891414
See related: Ensembl:ENSMUSG00000029790 AllianceGenome:MGI:1891414
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: Tsga14; 1700017E11Rik; 2810431D15Rik
Summary: This gene encodes a centrosomal protein which may be required for tubulin glutamylation in cilia during ciliogenesis. Mutations in a similar gene in human have been associated with Joubert Syndrome 15, an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Expression: Broad expression in testis adult (RPKM 7.1), limb E14.5 (RPKM 6.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.3; 6 12.52 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (30653456..30710511, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (30653457..30710517, complement)

Chromosome 6 - NC_000072.7 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 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)

Gene trapped (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6Mit308 (e-PCR), detects polymorphism
- UniSTS:130859

TSGA14__5148 (e-PCR)
- UniSTS:466534

NoName (e-PCR)
- UniSTS:235396

NoName (e-PCR)
- UniSTS:235400

AI503610 (e-PCR)
- UniSTS:164316

AI449046 (e-PCR)
- UniSTS:164318

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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in protein polyglutamylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in centrosome	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: centrosomal protein of 41 kDa

Names: testis specific gene A14

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_031998.3 → NP_114387.1 centrosomal protein of 41 kDa

See identical proteins and their annotated locations for NP_114387.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AC155656, BC031892

Consensus CDS

CCDS19978.1

UniProtKB/Swiss-Prot

D3Z3U1, F7CSA6, Q3TTB5, Q8BT53, Q99NF3

UniProtKB/TrEMBL

H9KUZ8

Related

ENSMUSP00000031810.9, ENSMUST00000031810.15

Conserved Domains (1) summary

cd00158
Location:170 → 255

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

RNA

NR_130775.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC155656, AK019270, BY712226

Related

ENSMUST00000115130.3
NR_130781.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the central region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC155656, AK166974, BC031892, BY736279

Related

ENSMUST00000140211.8

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_000072.7 Reference GRCm39 C57BL/6J

Range

30653456..30710511 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505209.5 → XP_006505272.1 centrosomal protein of 41 kDa isoform X4

UniProtKB/TrEMBL

H9KUZ8

Conserved Domains (1) summary

pfam00581
Location:172 → 241

Rhodanese; Rhodanese-like domain
XM_006505210.5 → XP_006505273.1 centrosomal protein of 41 kDa isoform X6

Conserved Domains (1) summary

cd00158
Location:156 → 241

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
XM_006505207.5 → XP_006505270.1 centrosomal protein of 41 kDa isoform X1

Conserved Domains (1) summary

cd00158
Location:172 → 257

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
XM_030255682.2 → XP_030111542.1 centrosomal protein of 41 kDa isoform X5

UniProtKB/TrEMBL

H9KUZ8

Conserved Domains (1) summary

pfam00581
Location:170 → 239

Rhodanese; Rhodanese-like domain
XM_006505211.5 → XP_006505274.1 centrosomal protein of 41 kDa isoform X7

Conserved Domains (1) summary

cd00158
Location:154 → 239

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
XM_006505208.5 → XP_006505271.1 centrosomal protein of 41 kDa isoform X2

Conserved Domains (1) summary

cd00158
Location:168 → 253

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
XM_011241090.1 → XP_011239392.1 centrosomal protein of 41 kDa isoform X3

Conserved Domains (1) summary

cd00158
Location:167 → 252

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
XM_006505213.5 → XP_006505276.1 centrosomal protein of 41 kDa isoform X8

UniProtKB/TrEMBL

Q3TUE7

Conserved Domains (1) summary

cd00158
Location:130 → 215

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...