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8243 SMC1A

8243

SMC1A

structural maintenance of chromosomes 1A

protein-coding

Homo sapiens

基因描述

Type Description
Definition structural maintenance of chromosomes 1A

研究结论

Date Results Publications
2020-07-25 13:03:00 Significant phenotypical behavioral differences between individuals with de Lange syndrome caused by SMC1A variants and those caused by NIPBL variants. 30295920
2020-05-16 12:39:00 Holoprosencephaly is associate with variants in the two X-linked cohesin complex genes, SMC1A and STAG2. 31334757
2020-03-28 10:44:00 NEAT1 repressed the expression of miR-23a-3p, and therefore promoted SMC1A, which in turn suppressed myeloid leukemia cell proliferation and enhanced apoptosis 30246348
2019-12-07 11:41:00 Knockdown of CRL7(SMU1) components or loss of H2B ubiquitylation leads to defective sister chromatid cohesion, which is rescued by restoration of SMC1a expression. 29507117
2019-08-17 10:05:00 observations suggest that phosphorylation of SMC1A is a vital event in tumorigenesis and disease progression in hepatocellular carcinoma thus necessitating further investigation. 29988990

名称对应

Type IDs
Synonymous CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB
Gene
UniProtKB-ID: SMC1A_HUMAN, Q68EN4_HUMAN, A0A384MR33_HUMAN, G8JLG1_HUMAN
UniprotKB: Q14683, Q68EN4, A0A384MR33, G8JLG1
UniParc: UPI0003833506, UPI0000135A4D, UPI000041A249
EMBL: GQ900894, AC233728, BC112127, S78271, AL161779, D80000, CH471154, BC080185, Z97054
Ensembl: ENSG00000072501
KO: hsa:8243
Nucleutide sequences
EMBL-CDS: BAA11495.2, CAI42646.1, AAB34405.1, CAI42089.1, AAI12128.1, AAH80185.1, EAW93150.1, ADO22411.1
Gene_ORFName: hCG_18494
Ensembl_TRS: ENST00000322213, ENST00000375340, ENST00000675504
Protein sequencees
Ensembl_PRO: ENSP00000323421, ENSP00000364489, ENSP00000502524
RefSeq: NP_006297.2, NP_001268392.1
Others
UniRef100: UniRef100_Q14683, UniRef100_Q68EN4, UniRef100_G8JLG1
UniRef90: UniRef90_Q14683, UniRef90_Q68EN4
UniRef50: UniRef50_Q68EN4, UniRef50_Q14683
UniGene: Hs.211602
CCDS: CCDS14352.1

全选

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