TTLL5 - tubulin tyrosine ligase like 5 Gene
Also Known as STAMP; CORD19; KIAA0998
Species: Homo sapiens
About TTLL5
This gene has 22 transcripts (splice variants), 81 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 39.2), thyroid (RPKM 5.0) and 22 other tissues.
Summary
This gene encodes a member of the tubulin tyrosine Ligase like protein family. This protein interacts with two Glucocorticoid Receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of Glucocorticoid Receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
TTLL5 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_015072.5 | NP_055887.3 | tubulin polyglutamylase TTLL5 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within retina development in camera-type eye |
IMP
IMP: Inferred from mutant phenotype
|
24791901 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
21399614 | GOA |
TTLL5 Protein Structure
TTL: Tubulin-tyrosine ligase family (116 - 395)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1281 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tubulin polyglutamylase TTLL5 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cone-Rod Dystrophy 19 |
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| Choroidal Dystrophy, Central Areolar, 1 |
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| Cone-Rod Dystrophy 2 |
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| Fundus Dystrophy |
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| Retinitis Pigmentosa |
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| Cone-Rod Dystrophy 16 |
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| Bardet-Biedl Syndrome 16 |
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| Cone-Rod Dystrophy 18 |
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| Macular Degeneration, Age-Related, 2 |
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| Alternating Exotropia |
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| Cone Dystrophy |
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| Achromatopsia |
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| Congenital Stationary Night Blindness |
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| Joubert Syndrome 1 |
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| Leber Plus Disease |
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