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51008 ASCC1

51008

ASCC1

activating signal cointegrator 1 complex subunit 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition activating signal cointegrator 1 complex subunit 1

研究结论

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

名称对应

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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