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Protein Coding Gene : Ttll5 tubulin tyrosine ligase-like family, member 5

Primary Identifier  MGI:2443657 Organism  mouse, laboratory
Chromosome  12 NCBI Gene Number  320244
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables tubulin-glutamic acid ligase activity. Acts upstream of or within fertilization and sperm axoneme assembly. Located in 9+0 non-motile cilium and ciliary basal body. Is expressed in brain and early embryo. Human ortholog(s) of this gene implicated in cone-rod dystrophy 19. Orthologous to human TTLL5 (tubulin tyrosine ligase like 5).
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa. [provided by MGI curators]
  • synonyms:
  • expressed sequence R75373,
  • MGI:1920622,
  • MGI:2145136,
  • 4930556H18Rik,
  • MGI:1916810,
  • AI428864,
  • 2310009M18Rik,
  • RIKEN cDNA 4930556H18 gene,
  • D630041K24Rik,
  • RIKEN cDNA 1700048H13 gene,
  • Ttll5,
  • MGI:2144819,
  • expressed sequence AI428864,
  • 1700048H13Rik,
  • MGI:1922613,
  • R75373,
  • STAMP,
  • mKIAA0998,
  • RIKEN cDNA D630041K24 gene,
  • RIKEN cDNA 2310009M18 gene,
  • tubulin tyrosine ligase-like family, member 5

Features --> Cross References

Genome

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0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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1 Driver For