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4221 MEN1

4221

MEN1

menin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition menin 1

研究结论

Date Results Publications
2020-09-26 13:04:00 The clinical characteristics and molecular mechanism of pituitary adenoma associated with meningioma. 31665029
2020-09-19 16:30:00 Menin inhibitor MI-3454 induces remission in MLL1-rearranged and NPM1-mutated models of leukemia. 31855575
2020-09-12 15:57:00 Recommendation of long-term and systemic management according to the risk factors in rectal NETs patients. 30787304
2020-08-01 10:37:00 This case report observed a family that presented with MEN1 p.L105Vfs mutation. To the best of our knowledge, this is the first time such a mutation in the MEN1 gene has been reported 32126984
2020-05-30 10:10:00 phenocopy is common and represents a significant confounder for genetic testing 31044390

名称对应

Type IDs
Synonymous MEAI, SCG2
Gene
UniProtKB-ID: MEN1_HUMAN, Q9GZQ5_HUMAN, A0A024R5E3_HUMAN, A0A5F9ZHS3_HUMAN, A0A024R5D2_HUMAN
UniprotKB: O00255, Q9GZQ5, A0A024R5E3, A0A5F9ZHS3, A0A024R5D2
UniParc: UPI0000228E6B, UPI0000246DC0, UPI000002ADE3, UPI0005CFF8EE, UPI0000072966, UPI000066D8FC, UPI000012EEDD
EMBL: AJ297488, EF443094, BC002664, AP001462, AJ297485, EF443093, EF443091, BC002544, U93237, AJ297489, EF443096, AJ297487, EF443095, EF443092, CH471076, AJ297486, EF443097, U93236
Ensembl: ENSG00000133895
KO: hsa:4221
Nucleutide sequences
EMBL-CDS: AAC51228.1, AAC51230.1, AAC51229.1, AAH02544.1, ABQ12621.1, ABQ12626.1, ABQ12623.1, ABQ12624.1, AAH02664.2, ABQ12625.1, ABQ12627.1, ABQ12622.1, CAC14131.1, CAC14130.1, CAC14133.1, CAC14129.1, CAC14132.1, EAW74309.1, EAW74308.1, EAW74315.1, EAW74305.1, EAW74306.1, EAW74303.1, EAW74312.1, EAW74304.1, EAW74307.1, EAW74313.1
Gene_ORFName: hCG_2017452, hCG_2017452
Ensembl_TRS: ENST00000377321, ENST00000312049, ENST00000394374, ENST00000337652, ENST00000377313, ENST00000377326, ENST00000394376, ENST00000315422, ENST00000450708, ENST00000440873, ENST00000429702, ENST00000424912, ENST00000672304
Protein sequencees
Ensembl_PRO: ENSP00000337088, ENSP00000323747, ENSP00000366530, ENSP00000366538, ENSP00000308975, ENSP00000377901, ENSP00000394933, ENSP00000366543, ENSP00000413944, ENSP00000377899, ENSP00000388016, ENSP00000402752, ENSP00000500585
RefSeq: NP_570716.1, NP_001357190.1, XP_016873256.1, XP_011543343.1, NP_001357191.1, XP_016873255.1, NP_570713.1, XP_011543342.1, NP_000235.2, NP_570712.1, NP_001357188.2, XP_016873254.1, NP_001357189.1, NP_001357180.1, XP_016873257.1, NP_570711.1, NP_570714.1, NP_001357192.1, NP_570715.1
Others
UniRef100: UniRef100_A0A024R5E3, UniRef100_A0A024R5D2, UniRef100_A0A5F9ZHS3, UniRef100_E7ENS2, UniRef100_O00255
UniRef90: UniRef90_O00255, UniRef90_E7ENS2
UniRef50: UniRef50_O00255, UniRef50_A0A384DK18
UniGene: Hs.423348
CCDS: CCDS8083.1, CCDS31600.1

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