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56916 SMARCAD1

56916

SMARCAD1

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

研究结论

Date Results Publications
2020-09-05 13:55:00 SMARCAD1-mediated recruitment of the DNA mismatch repair protein MutLalpha to MutSalpha on damaged chromatin induces apoptosis in human cells. 31843968
2020-05-09 11:32:00 A structural model of the KAP1 RBCC domain-SMARCAD1 CUE1 domain complex is presented. SMARCAD1 CUE1 has higher affinity for KAP1 RBCC than monoubiquitin. CUE1 binds an exposed coiled-coil surface on KAP1, not a domain resembling ubiquitin. 31204252
2019-05-25 12:12:00 Whole-genome sequencing on DNA from affected individuals with Huriez syndrome from three families revealed three not previously reported SNPs in SMARCAD1 gene. Western blot experiments confirmed the reduced expression of Smarcad1 protein in keratinocytes and fibroblasts from patients compared with healthy controls. Study concluded that haploinsufficiency for the skin-specific SMARCAD1 isoform accounts for Huriez syndrome. 29409814
2018-12-22 10:15:00 Data suggest that retention of SMARCAD1 in nucleus is dependent on interaction of CUE1 domain of SMARCAD1 with RBCC domain of KAP1; these studies were conducted with recombinant proteins expressed in mouse embryonic stem cell line and human somatic cell line. (SMARCAD1 = ATP-dependent helicase-1; KAP1 = KRAB-interacting protein-1) 29284678
2018-11-03 11:11:00 SMARCAD1 knockdown resulted in a significant decrease in breast cancer cell proliferation and colony formation, leading to the significant inhibition of tumour growth in both the chick embryo and nude mouse xenograft models. This inhibition was due, at least in part, to a decrease in IKKbeta expression. 30308496

名称对应

Type IDs
Synonymous ADERM, BASNS, ETL1, HEL1
Gene
UniProtKB-ID: SMRCD_HUMAN
UniprotKB: Q9H4L7
UniParc: UPI0001915261, UPI000020B1CF, UPI000013E22F
EMBL: BC045534, AL512768, AK301668, AL359929, AB032948, AC096746, BC017953, AK027490, AY008271, AK023990
Ensembl: ENSG00000163104
KO: hsa:56916
Nucleutide sequences
EMBL-CDS: CAC21685.1, AAH17953.1, AAG16639.1, BAA86436.2, BAB14759.1, BAB55150.1, CAB95769.1, AAH45534.1, BAH13535.1
Ensembl_TRS: ENST00000509418, ENST00000354268, ENST00000457823, ENST00000359052
Protein sequencees
Ensembl_PRO: ENSP00000346217, ENSP00000351947, ENSP00000423286, ENSP00000415576
RefSeq: NP_001362784.1, NP_001121902.1, NP_001362787.1, XP_024309922.1, NP_001362788.1, NP_001121901.1, NP_001241878.1, NP_001362785.1, NP_001362786.1, NP_064544.2
Others
UniRef100: UniRef100_Q9H4L7
UniRef90: UniRef90_Q9H4L7
UniRef50: UniRef50_Q9H4L7
UniGene: Hs.410406
CCDS: CCDS47101.1, CCDS58914.1, CCDS3639.1

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