| Type | Description |
|---|---|
| Definition | capping protein regulator and myosin 1 linker 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-09 12:01:00 | V-1 and CARMIL induce changes in both proteins' binding sites on the surface of capping proteins, along with a set of internal residues. | 29847807 |
| 2019-04-06 12:37:00 | Study utilized whole exome sequencing and other assays to genetically and functionally characterize three consanguineous multiplex Saudi families with CARMIL2 mutations, presenting with dermatitis, recurrent skin abscesses and chest infections. | 29479355 |
| 2017-07-22 11:12:00 | A novel genetic variant in leucine-rich repeat-containing 16A (LRRC16A) has been associated with reduced ARDS risk. | 27768389 |
| 2015-05-16 10:11:00 | LRRC16A plays a role in adult respiratory distress syndrome pathophysiology by interacting with, and being mediated through, platelets. | 25254322 |
| 2014-06-28 10:24:00 | shown for the first time that CARMIL/LRRC16A was associated with gout, which could be due to urate transportsome failure | 24318514 |
| Type | IDs |
|---|---|
| Synonymous | CARMIL, CARMIL1a, LRRC16, LRRC16A, dJ501N12.1, dJ501N12.5 |
| Gene |
UniProtKB-ID:
CARL1_HUMAN
UniprotKB:
Q5VZK9
UniParc:
UPI00001C0B5E,
UPI0000D61400,
UPI000050C097,
UPI00004588AB
EMBL:
AL024509,
AK125696,
FJ009082,
AK000055,
AL022170,
AL160037,
AK123817
Ensembl:
ENSG00000079691
KO:
hsa:55604
|
| Nucleutide sequences |
EMBL-CDS:
ACI49709.1,
BAC85701.1,
BAC86250.1,
BAA90912.1
Ensembl_TRS:
ENST00000329474
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000331983
RefSeq:
XP_016866501.1,
XP_024302252.1,
XP_005249275.1,
XP_016866503.1,
XP_016866498.1,
XP_016866506.1,
XP_016866504.1,
NP_001167448.1,
XP_016866500.1,
XP_016866505.1,
NP_060110.4,
XP_016866502.1,
XP_016866499.1,
XP_024302253.1,
XP_016866497.1
|
| Others |
UniRef100:
UniRef100_Q5VZK9
UniRef90:
UniRef90_Q5VZK9
UniRef50:
UniRef50_Q5VZK9
UniGene:
Hs.649550
CCDS:
CCDS54973.1
|
| {{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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