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10046 MAMLD1

10046

MAMLD1

mastermind like domain containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition mastermind like domain containing 1

研究结论

Date Results Publications
2021-04-03 13:29:00 Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas. 30911995
2020-01-04 11:31:00 Nuclear localization of Yes associated protein 1 (YAP1)-mastermind like domain containing 1 (MAMLD1) protein is mediated by MAMLD1 and independent of YAP1-Ser127 phosphorylation. 31477715
2018-01-20 10:15:00 Study provides evidence that MAMLD1 transcription is up-regulated in patients with 46,XX testicular and ovotesticular disorders of sex development. 27490115
2018-01-06 12:50:00 By direct sequencing of PCR products, we assessed and found mutations that occur in 220 sporadic cases of hypospadias. The mutation p.N589S (c.1766A>G) was found at a significantly higher rate among patients with hypospadias. 28199199
2017-04-01 11:36:00 occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in of its exon 7 is associated with a higher risk of isolated hypospadias in Indian children, probably by lowering androgenic levels 26815876

名称对应

Type IDs
Synonymous CG1, CXorf6, F18, HYSP2
Gene
UniProtKB-ID: MAMD1_HUMAN
UniprotKB: Q13495
UniParc: UPI000192C3EC, UPI00017A6EBC, UPI0000ED4E83
EMBL: U46023, AL034384, AC109994, AK294478, BC136324, AK315217
Ensembl: ENSG00000013619
KO: hsa:10046
Nucleutide sequences
EMBL-CDS: BAG37651.1, AAI36325.1, AAC50551.1, BAG57704.1
Ensembl_TRS: ENST00000370401, ENST00000426613, ENST00000262858, ENST00000432680
Protein sequencees
Ensembl_PRO: ENSP00000397438, ENSP00000359428, ENSP00000262858, ENSP00000414517
RefSeq: XP_011529395.1, XP_024308086.1, NP_001170936.1, XP_011529397.1, NP_005482.2, XP_006724866.1, NP_001170937.1, XP_016884678.1, XP_024308088.1, XP_006724865.1, XP_016884677.1, XP_011529394.1, XP_024308085.1
Others
UniRef100: UniRef100_Q13495
UniRef90: UniRef90_Q13495
UniRef50: UniRef50_Q13495
UniGene: Hs.20136
CCDS: CCDS55526.1, CCDS55525.1, CCDS14693.2

全选

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