Type | Description |
---|---|
Definition | activating signal cointegrator 1 complex subunit 1 |
Date | Results | Publications |
---|---|---|
2021-01-09 13:26:00 | A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. | 31880396 |
2020-11-28 13:14:00 | Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women. | 32653958 |
2020-06-13 10:47:00 | this work expands the ASCC1 mutation spectrum, sheds light on the muscle histology of the disorder and emphasises the physiological importance of the ASC-1 complex in fetal muscle and bone development. | 30327447 |
2019-03-09 12:36:00 | ASCC1 knockout through a CRISPR/Cas9 approach results in alkylation damage sensitivity in a manner epistatic with ASCC3. | 29997253 |
2018-05-19 11:09:00 | Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra | 28218388 |
Type | IDs |
---|---|
Synonymous | ASC1p50, CGI-18, SMABF2, p50 |
Gene |
UniProtKB-ID:
ASCC1_HUMAN,
A0A024QZM0_HUMAN
UniprotKB:
Q8N9N2,
A0A024QZM0
UniParc:
UPI000006F7E9,
UPI0000034E06
EMBL:
AC022392,
BC012291,
AY013290,
CH471083,
AK094170,
AL607035,
AK023436,
AF132952
Ensembl:
ENSG00000138303
KO:
hsa:51008
|
Nucleutide sequences |
EMBL-CDS:
BAC04299.1,
AAD27727.1,
AAH12291.1,
AAG45476.1,
EAW54444.1,
BAG51193.1,
EAW54445.1
Gene_ORFName:
CGI-18,
hCG_1787834
Ensembl_TRS:
ENST00000317126,
ENST00000394915,
ENST00000394919,
ENST00000672957,
ENST00000342444
|
Protein sequencees |
Ensembl_PRO:
ENSP00000339404,
ENSP00000320461,
ENSP00000378373,
ENSP00000378377,
ENSP00000500935
RefSeq:
NP_001356038.1,
NP_001356014.1,
NP_001356025.1,
NP_001356015.1,
NP_001356037.1,
NP_001356028.1,
NP_001356036.1,
NP_001185728.1,
NP_001356041.1,
NP_001356019.1,
NP_001356029.1,
NP_001356026.1,
NP_001185727.1,
NP_001356024.1,
NP_001356021.1,
NP_001356016.1,
NP_001185729.1,
NP_001356031.1,
NP_001356023.1,
XP_024303800.1,
NP_001356040.1,
NP_001356030.1,
NP_001356039.1,
NP_001356018.1,
NP_001356027.1,
NP_001356022.1,
NP_001356034.1,
NP_001356035.1,
NP_001356020.1,
NP_001356032.1,
NP_001356033.1,
NP_001356017.1
|
Others |
UniRef100:
UniRef100_A0A024QZM0,
UniRef100_Q8N9N2
UniRef90:
UniRef90_Q8N9N2,
UniRef90_I3LX56
UniRef50:
UniRef50_Q8N9N2
UniGene:
Hs.500007
CCDS:
CCDS55713.1,
CCDS31219.1
|
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Refseq |
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