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Ttll5 Gene Detail
Summary
  • Symbol
    Ttll5
  • Name
    tubulin tyrosine ligase-like family, member 5
  • Synonyms
    1700048H13Rik, 2310009M18Rik, 4930556H18Rik, D630041K24Rik, mKIAA0998, STAMP
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443657
    NCBI Gene: 320244
Location & Maps
more
  • Sequence Map
    Chr12:85824659-86061893 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      237235 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 39.81 cM, cytoband D3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TTLL5, tubulin tyrosine ligase like 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TTLL5, tubulin tyrosine ligase like 5
    Orthology source: HomoloGene
  • Synonyms
    CORD19, KIAA0998, STAMP
  • Links
    NCBI Gene ID: 23093
    neXtProt AC: NX_Q6EMB2

  • Chr Location
    14q24.3; chr14:75661208-75955082 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9013
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: TTLL5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human TTLL5 associations

Human Disease Mouse Models
       Cone-Rod Dystrophy 19; CORD19   OMIM: 615860
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    2 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Targeted
    8
  • Genomic Mutations
    1 involving Ttll5
  • Incidental Mutations
Mice homozygous for a hypomorphic allele exhibit male infertility associated with abnormal sperm morphology and reduced tubulin polyglutamylation in the spermatozoa.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022958 VEGA Gene Model | MGI Sequence Detail 237235 C57BL/6J ±  kb
transcript OTTMUST00000054969 VEGA | MGI Sequence Detail 5081 Not Applicable  
polypeptide OTTMUSP00000026262 VEGA | MGI Sequence Detail 1328 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1022 from dbSNP Build 142
Protein
Information
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  • UniProt
    16 Sequences
  • Protein Ontology
    PR:000016794 tubulin polyglutamylase TTLL5
  • EC
  • InterPro Domains
    IPR004344 Tubulin-tyrosine ligase/Tubulin polyglutamylase
Molecular
Reagents
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  • All nucleic 14
    cDNA 13
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:1916810, MGI:1920622, MGI:1922613, MGI:2144819, MGI:2145136
References
more
  • Summaries
    All 37
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 11
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:232177 Sun X, et al., Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A. 2016 May 24;113(21):E2925-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory