Type | Description |
---|---|
Definition | glutamine rich 1 |
Date | Results | Publications |
---|---|---|
2021-02-13 13:27:00 | QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis. | 33384352 |
2020-02-15 13:14:00 | Our findings indicate that QRICH1 mutations cause not only developmental delay but also a chondrodysplasia characterized by diminished linear growth and abnormal growth plate morphology due to impaired growth plate chondrocyte hypertrophic differentiation. | 30281152 |
2019-08-03 10:22:00 | Despite their small number, the patients had a relatively consistent pattern of clinical features suggesting the presence of a QRICH1-associated phenotype. LoF mutations in QRICH1 are suggested as a novel cause of developmental delay. | 28692176 |
Type | IDs |
---|---|
Synonymous | AB-DIP, VERBRAS |
Gene |
UniProtKB-ID:
QRIC1_HUMAN,
A1L3Z9_HUMAN
UniprotKB:
Q2TAL8,
A1L3Z9
UniParc:
UPI0000209C85
EMBL:
BC130342,
BC130340,
CH471055,
BC000978,
AK074313,
BC110855,
AK292536,
BC098375
Ensembl:
ENSG00000198218
KO:
hsa:54870
|
Nucleutide sequences |
EMBL-CDS:
AAH00978.2,
AAI10856.1,
BAB85047.1,
AAH98375.1,
EAW64949.1,
AAI30341.1,
EAW64951.1,
BAF85225.1,
EAW64948.1,
EAW64950.1,
AAI30343.1
Gene_ORFName:
hCG_2002013
Ensembl_TRS:
ENST00000395443,
ENST00000357496,
ENST00000424300
|
Protein sequencees |
Ensembl_PRO:
ENSP00000412890,
ENSP00000350094,
ENSP00000378830
RefSeq:
NP_942581.1,
NP_001307514.1,
NP_060200.2,
NP_001307512.1,
NP_001307513.1,
NP_001307511.1,
NP_001307509.1,
NP_001307510.1,
XP_011532165.1
|
Others |
UniRef100:
UniRef100_Q2TAL8
UniRef90:
UniRef90_Q2TAL8
UniRef50:
UniRef50_Q2TAL8
UniGene:
Hs.297389
CCDS:
CCDS2787.1
|
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Refseq |
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