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3614 IMPDH1

3614

IMPDH1

inosine monophosphate dehydrogenase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition inosine monophosphate dehydrogenase 1

研究结论

Date Results Publications
2021-02-06 13:49:00 IMP dehydrogenase rod/ring structures in acral melanomas. 31883196
2018-11-03 11:02:00 We have found that the rs2278294 G allele exerts statistically significant inhibition on post-kidney transplant body mass index gain 30056902
2015-04-18 11:18:00 In our cohort of >300 familial cases of autosomal-recessive retinitis pigmentosa, PKRP004 is the only family harboring a mutation in IMPDH1. 25439607
2015-04-11 10:37:00 Expression of IMPDH mRNA after mycophenolate administration in male volunteers. 25105143
2014-06-07 11:46:00 A novel mutation, p.L270R in IMPDH1, was found to be retinitis pigmentosa-causing in one family. 23534816

名称对应

Type IDs
Synonymous IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608
Gene
UniProtKB-ID: IMDH1_HUMAN, B3KRZ3_HUMAN, Q6ZNB1_HUMAN
UniprotKB: P20839, B3KRZ3, Q6ZNB1
UniParc: UPI0001881B52, UPI00015B6546, UPI00001BDC74, UPI000004A47C, UPI00003724C5, UPI000002ABE1, UPI00017A6C33, UPI000035E760, UPI00001A8196
EMBL: AK054667, AK131294, AK054640, BC033622, J05272, CH471070, CH236947, CD014008, AK122994, AK092452, AC010655, AK293413
Ensembl: ENSG00000106348
KO: hsa:3614
Nucleutide sequences
EMBL-CDS: AAA36114.1, EAL24310.1, EAW83652.1, AAH33622.2, BAG53840.1, BAB70780.1, BAG56920.1, EAL24311.1, BAG51409.1, BAG52555.1, BAD18464.1
Ensembl_TRS: ENST00000419067, ENST00000338791, ENST00000480861, ENST00000496200, ENST00000354269, ENST00000348127
Protein sequencees
Ensembl_PRO: ENSP00000346219, ENSP00000399400, ENSP00000420185, ENSP00000265385, ENSP00000420803, ENSP00000345096
RefSeq: XP_016867662.1, NP_000874.2, XP_016867661.1, XP_024302524.1, NP_001136045.1, NP_001136048.1, XP_024302523.1, XP_024302526.1, NP_001136046.1, NP_001291450.1, XP_024302525.1, NP_001096075.1, NP_899066.1, NP_001136047.1
Others
UniRef100: UniRef100_P20839, UniRef100_Q6ZNB1, UniRef100_B3KRZ3
UniRef90: UniRef90_P20839
UniRef50: UniRef50_P20839
UniGene: Hs.654401
CCDS: CCDS47700.1, CCDS34748.1, CCDS34749.1, CCDS47699.1, CCDS55161.1, CCDS43643.1

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