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64093 SMOC1

64093

SMOC1

SPARC related modular calcium binding 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition SPARC related modular calcium binding 1

研究结论

Date Results Publications
2020-02-08 10:40:00 Exome sequencing identified two variants in the SMOC1 gene, each inherited from one of the parents: c.709G>T - p.(Glu237*) on exon 8 and c.1223G>A - p.(Cys408Tyr) on exon 11, both predicted to be pathogenic by different bioinformatics software. Brain histopathology showed an abnormal cortical neuronal migration, which could be related to the SMOC1 protein function, given its role in cellular signaling 30445150
2018-01-13 13:32:00 Missense mutation in exon 3 of SMOC1 segregated with the Waardenburg anophthalmia syndrome in the Iranian family. 28807869
2017-12-02 11:16:00 This is the first report of Waardenburg anophthalmia syndrome (WAS) caused by a SMOC1 variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SMOC-1 in causing WAS. 28085523
2017-03-18 10:24:00 SMOC binds to Pro-EGF, but does not induce Erk phosphorylation via the EGFR. 27101391
2013-09-14 10:05:00 IL-17A but not IL-22 suppresses the replication of hepatitis B virus by inducing the expression of MxA and OAS. 23274784

名称对应

Type IDs
Synonymous OAS
Gene
UniProtKB-ID: SMOC1_HUMAN, A0A024R6E0_HUMAN
UniprotKB: Q9H4F8, A0A024R6E0
UniParc: UPI0000071CCF, UPI000004746F
EMBL: CH471061, AL157789, AK313063, AJ249900, BC008608, AL135747, BC011548, AK289988
Ensembl: ENSG00000198732
KO: hsa:64093
Nucleutide sequences
EMBL-CDS: AAH08608.1, CAC10352.1, BAG35892.1, EAW81013.1, BAF82677.1, AAH11548.1, EAW81014.1, EAW81015.1
Gene_ORFName: hCG_21971
Ensembl_TRS: ENST00000381280, ENST00000361956
Protein sequencees
Ensembl_PRO: ENSP00000355110, ENSP00000370680
RefSeq: XP_005268053.1, XP_005268052.1, NP_071420.1, NP_001030024.1
Others
UniRef100: UniRef100_Q9H4F8
UniRef90: UniRef90_Q9H4F8
UniRef50: UniRef50_Q9H4F8
UniGene: Hs.497349
CCDS: CCDS32110.1, CCDS9798.1

全选

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