| Type | Description |
|---|---|
| Definition | leucine rich repeat, Ig-like and transmembrane domains 3 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-18 13:33:00 | In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. | 27428514 |
| 2017-07-01 10:28:00 | LRIT3 is likely involved in coordination of the transsynaptic communication between cones and ON-BCs during synapse formation and | 28334377 |
| 2013-03-16 12:23:00 | The exact role of this LRR protein in cCSNB remains to be elucidated. | 23246293 |
| 2010-06-30 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 20332099 |
| Type | IDs |
|---|---|
| Synonymous | CSNB1F, FIGLER4 |
| Gene |
UniProtKB-ID:
LRIT3_HUMAN,
A0A0A0MR64_HUMAN
UniprotKB:
Q3SXY7,
A0A0A0MR64
UniParc:
UPI0000F07E94,
UPI0000367278,
UPI0002B8CC09
EMBL:
BC104037,
JQ354981,
AK126648,
CH471057,
AC126283,
AC005509
Ensembl:
ENSG00000183423
KO:
hsa:345193
|
| Nucleutide sequences |
EMBL-CDS:
EAX06256.1,
AAI04038.1,
AFH56665.1,
BAC86628.1
Ensembl_TRS:
ENST00000594814,
ENST00000327908
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000469759,
ENSP00000328222
RefSeq:
NP_940908.3,
XP_016863656.1,
XP_016863657.1
|
| Others |
UniRef100:
UniRef100_Q3SXY7,
UniRef100_A0A0A0MR64
UniRef90:
UniRef90_A0A2K5QAP7,
UniRef90_Q3SXY7
UniRef50:
UniRef50_A0A2K5QAP7,
UniRef50_Q3SXY7
UniGene:
Hs.308127
CCDS:
CCDS3688.3
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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