Ttll1 tubulin tyrosine ligase-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ttll1provided by MGI
Official Full Name: tubulin tyrosine ligase-like 1provided by MGI
Primary source: MGI:MGI:2443047
See related: Ensembl:ENSMUSG00000022442 AllianceGenome:MGI:2443047
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: 6330444E16Rik
Summary: Enables tubulin-glutamic acid ligase activity. Acts upstream of or within several processes, including cerebellar Purkinje cell differentiation; mucociliary clearance; and protein polyglutamylation. Located in ciliary basal body. Is expressed in 1-cell stage embryo; 8-cell stage embryo; blastocyst; and cortical plate. Used to study primary ciliary dyskinesia. Orthologous to human TTLL1 (TTL family tubulin polyglutamylase complex subunit L1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in whole brain E14.5 (RPKM 14.5), CNS E18 (RPKM 14.3) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E1; 15 39.4 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (83367258..83402675, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (83483057..83518474, complement)

Chromosome 15 - NC_000081.7 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 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?

Tubulin Polyglutamylation by TTLL1 and TTLL7 Regulate Glutamate Concentration in the Mice Brain.
Title: Tubulin Polyglutamylation by TTLL1 and TTLL7 Regulate Glutamate Concentration in the Mice Brain.
Distinct roles of alpha- and beta-tubulin polyglutamylation in controlling axonal transport and in neurodegeneration.
Title: Distinct roles of α- and β-tubulin polyglutamylation in controlling axonal transport and in neurodegeneration.
Klf4 polyglutamylation plays a critical role in the regulation of cell reprogramming and pluripotency maintenance in a process that involves TTLL4 and TTLL1
Title: Klf4 glutamylation is required for cell reprogramming and early embryonic development in mice.
TTLL1 plays a role in establishing normal functions of specific cilia and flagella.
Title: Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice.
loss of beating asymmetry resulted in a reduction of cilia-generated fluid flow in trachea from the Ttll1 knock-out mice.
Title: Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry.
findings showed that the neuronal tubulin polyglutamylase is a protein complex containing a tubulin tyrosine ligase-like (TTLL) protein, TTLL1
Title: Tubulin polyglutamylase enzymes are members of the TTL domain protein family.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

General gene information

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Markers

AV014541 (e-PCR)
- UniSTS:165951

Ttll1 (e-PCR), detects polymorphism
- UniSTS:527591

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-glutamic acid ligase activity, elongating	IEA Inferred from Electronic Annotation more info
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	EXP Inferred from Experiment more info	PubMed
enables tubulin-glutamic acid ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables tubulin-glutamic acid ligase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebellar Purkinje cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within immune response in nasopharyngeal-associated lymphoid tissue	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mucociliary clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein modification process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein polyglutamylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein polyglutamylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of blastocyst development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	ISO Inferred from Sequence Orthology more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: polyglutamylase complex subunit TTLL1

Names: PGs3; p49; probable tubulin polyglutamylase TTLL1; tubulin polyglutamylase TTLL1; tubulin polyglutamylase complex subunit 3; tubulin--tyrosine ligase-like 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_001357953.1 → NP_001344882.1 polyglutamylase complex subunit TTLL1

Status: VALIDATED

Source sequence(s)

AL583889

Consensus CDS

CCDS27702.1

UniProtKB/Swiss-Prot

Q3TGC8, Q543S4, Q8C0A2, Q91V51, Q91ZG1

Conserved Domains (1) summary

pfam03133
Location:59 → 364

TTL; Tubulin-tyrosine ligase family
NM_178869.4 → NP_849200.2 polyglutamylase complex subunit TTLL1

See identical proteins and their annotated locations for NP_849200.2

Status: VALIDATED

Source sequence(s)

AK140472, AK168786, AK169150, BY091756

Consensus CDS

CCDS27702.1

UniProtKB/Swiss-Prot

Q3TGC8, Q543S4, Q8C0A2, Q91V51, Q91ZG1

Related

ENSMUSP00000016897.5, ENSMUST00000016897.12

Conserved Domains (1) summary

pfam03133
Location:59 → 364

TTL; Tubulin-tyrosine ligase family

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_000081.7 Reference GRCm39 C57BL/6J

Range

83367258..83402675 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030248606.2 → XP_030104466.1 polyglutamylase complex subunit TTLL1 isoform X2

Conserved Domains (1) summary

pfam03133
Location:2 → 264

TTL; Tubulin-tyrosine ligase family
XM_006521078.4 → XP_006521141.1 polyglutamylase complex subunit TTLL1 isoform X1

See identical proteins and their annotated locations for XP_006521141.1

UniProtKB/Swiss-Prot

Q3TGC8, Q543S4, Q8C0A2, Q91V51, Q91ZG1

Conserved Domains (1) summary

pfam03133
Location:59 → 364

TTL; Tubulin-tyrosine ligase family