| Type | Description |
|---|---|
| Definition | tubulin tyrosine ligase like 5 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 12:00:00 | Binding of CSAP to TTLL5 promotes relocalization of TTLL5 toward microtubules. | 30517872 |
| 2018-03-24 11:54:00 | in a study of 3 family members from 2 generations, identified in a previously misdiagnosed incomplete congenital stationary night blindness (icCSNB) case a splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA); reinvestigation of the clinical data corrected the diagnosis to cone dystrophy | 28356705 |
| 2018-03-03 11:48:00 | 5 homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe) and p.(Glu543Lys)] in TTLL5, in 8 patients from 6 families were identified. 2 male patients carrying truncating TTLL5 variants also displayed a reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. TTLL has multiple viable isoforms, being highly expressed in retina, testis and spermatozoon flagellum. | 28173158 |
| 2014-06-28 10:31:00 | this study has performed exome sequencing in 28 individuals with a similar disease phenotype and subsequently used a casecontrol approach to identify mutations in TTLL5 as a cause of recessive retinal dystrophy. | 24791901 |
| 2010-06-28 11:07:00 | This study indicates that a physiological function of STAMP in several settings is to modify cell growth rates in a manner that can be independent of steroid hormones. | 20374646 |
| Type | IDs |
|---|---|
| Synonymous | CORD19, KIAA0998, STAMP |
| Gene |
UniProtKB-ID:
TTLL5_HUMAN
UniprotKB:
Q6EMB2
UniParc:
UPI00003FF22B,
UPI0000037CC2,
UPI0000D62433
EMBL:
BC136473,
CR533554,
AC007182,
BC002766,
AF107885,
BC136472,
AK024259,
AB023215,
CH471061,
AY237126,
AC009399,
AL136808
Ensembl:
ENSG00000119685
KO:
hsa:23093
|
| Nucleutide sequences |
EMBL-CDS:
CAG38585.1,
AAI36473.1,
EAW81247.1,
BAA76842.1,
AAI36474.1,
AAP75557.1,
AAH02766.2,
AAF23275.2,
CAB66742.1,
BAB14862.1
Ensembl_TRS:
ENST00000286650,
ENST00000298832,
ENST00000556893
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000452524,
ENSP00000286650,
ENSP00000298832
RefSeq:
NP_055887.3
|
| Others |
UniRef100:
UniRef100_Q6EMB2
UniRef90:
UniRef90_Q6EMB2
UniRef50:
UniRef50_Q6EMB2
UniGene:
Hs.709609
CCDS:
CCDS32124.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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