ENSG00000119685


Homo sapiens

Features
Gene ID: ENSG00000119685
  
Biological name :TTLL5
  
Synonyms : Q6EMB2 / TTLL5 / tubulin tyrosine ligase like 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q24.3
Gene start: 75633625
Gene end: 75955078
  
Corresponding Affymetrix probe sets: 1566101_at (Human Genome U133 Plus 2.0 Array)   1566102_at (Human Genome U133 Plus 2.0 Array)   208099_x_at (Human Genome U133 Plus 2.0 Array)   210539_at (Human Genome U133 Plus 2.0 Array)   210806_at (Human Genome U133 Plus 2.0 Array)   214672_at (Human Genome U133 Plus 2.0 Array)   215898_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451946
Ensembl peptide - ENSP00000478640
Ensembl peptide - ENSP00000452524
Ensembl peptide - ENSP00000286650
Ensembl peptide - ENSP00000298832
Ensembl peptide - ENSP00000450713
Ensembl peptide - ENSP00000451917
NCBI entrez gene - 23093     See in Manteia.
OMIM - 612268
RefSeq - NM_015072
RefSeq Peptide - NP_055887
swissprot - Q2TAY9
swissprot - A0A087WUG0
swissprot - Q6EMB2
swissprot - G3V2J9
swissprot - G3V4R8
Ensembl - ENSG00000119685
  
Related genetic diseases (OMIM): 615860 - Cone-rod dystrophy 19, 615860
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ttll5ENSDARG00000036793Danio rerio
 TTLL5ENSGALG00000010340Gallus gallus
 Ttll5ENSMUSG00000012609Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TTLL4 / Q14679 / tubulin tyrosine ligase like 4ENSG0000013591218
TTLL6 / Q8N841 / tubulin tyrosine ligase like 6ENSG0000017070316
A6NNM8 / TTLL13P / tubulin tyrosine ligase like 13, pseudogeneENSG0000021347115
TTLL7 / Q6ZT98 / tubulin tyrosine ligase like 7ENSG0000013794114
Q8NHH1 / TTLL11 / tubulin tyrosine ligase like 11ENSG0000017576411
TTLL2 / Q9BWV7 / tubulin tyrosine ligase like 2ENSG0000012044011
TTLL1 / O95922 / tubulin tyrosine ligase like 1ENSG000001002719
TTLL9 / Q3SXZ7 / tubulin tyrosine ligase like 9ENSG000001310449
TTLL8 / A6PVC2 / tubulin tyrosine ligase like 8ENSG000001388929
Q6ZVT0 / TTLL10 / tubulin tyrosine ligase like 10ENSG000001625719
TTLL3 / Q9Y4R7 / tubulin tyrosine ligase like 3ENSG000002140218
ARPC4-TTLL3 / ARPC4-TTLL3 readthroughENSG000002501517


Protein motifs (from Interpro)
Interpro ID Name
 IPR004344  Tubulin-tyrosine ligase/Tubulin polyglutamylase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006464 cellular protein modification process IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007288 sperm axoneme assembly IEA
 biological_processGO:0009566 fertilization IEA
 biological_processGO:0018095 protein polyglutamylation TAS
 biological_processGO:0030317 flagellated sperm motility IEA
 biological_processGO:0060041 retina development in camera-type eye IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0070740 tubulin-glutamic acid ligase activity TAS


Pathways (from Reactome)
Pathway description
Carboxyterminal post-translational modifications of tubulin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000556 Retinal dystrophy 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007703 Abnormal retinal pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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