| Type | Description |
|---|---|
| Definition | CWF19 like cell cycle control factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-10-28 12:22:00 | Our report corroborates that loss-of-function mutations in CWF19Ll lead to early onset cerebellar ataxia and (progressive) cerebellar atrophy. | 27016154 |
| 2016-12-17 10:24:00 | Two pathogenic variants in CWF19L1 were identified in a patient with autosomal recessive cerebellar ataxia. c.37G>C variant was inherited from the father and the c.946A>T variant from the mother. | 26197978 |
| 2015-10-03 11:19:00 | Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1. | 25671812 |
| 2015-03-21 10:52:00 | CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay | 25361784 |
| 2013-11-16 11:52:00 | Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation. | 23477746 |
| Type | IDs |
|---|---|
| Synonymous | C19L1, SCAR17, hDrn1 |
| Gene |
UniProtKB-ID:
C19L1_HUMAN,
D3DR67_HUMAN,
A0A0S2Z5E9_HUMAN
UniprotKB:
Q69YN2,
D3DR67,
A0A0S2Z5E9
UniParc:
UPI00001F9550,
UPI0000070B3E,
UPI00000709B5,
UPI0000401E65
EMBL:
BC008746,
AK023984,
CH471066,
AL138921,
KU178692,
AK295303,
AK001860,
AL832515
Ensembl:
ENSG00000095485
KO:
hsa:55280
|
| Nucleutide sequences |
EMBL-CDS:
BAG58283.1,
EAW49843.1,
EAW49839.1,
AAH08746.1,
BAB14754.1,
BAA91947.1,
CAH10625.1,
EAW49844.1,
EAW49838.1,
EAW49842.1,
EAW49841.1,
ALQ34150.1
Gene_ORFName:
hCG_19414
Ensembl_TRS:
ENST00000354105
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000326411
RefSeq:
NP_001290333.1,
NP_001290334.1,
NP_001290335.1,
NP_001290336.1,
NP_060764.3
|
| Others |
UniRef100:
UniRef100_Q69YN2
UniRef90:
UniRef90_Q69YN2
UniRef50:
UniRef50_Q69YN2
UniGene:
Hs.215502
CCDS:
CCDS7489.1
|
| {{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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