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2664 GDI1

2664

GDI1

GDP dissociation inhibitor 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition GDP dissociation inhibitor 1

研究结论

Date Results Publications
2016-05-21 11:42:00 Data confirm isolated adrenocorticotropin deficiency (IAD) as autoimmune disease; RABGDIA (human, human recombinant, or rat) exhibits characteristics of autoantigen in anterior pituitary; patients with IAD exhibit autoantibodies against RABGDIA. 25346144
2016-02-06 12:15:00 Human oligodendrogliomas cells stably expressing mutant GDI1 showed altered cell proliferation. 25694352
2013-05-25 10:31:00 The results of this study identified RabGDI as a component of the switching mechanism that is required for commissural axons to change their response from attraction to repulsion at the intermediate target 23140504
2012-05-05 10:50:00 GDI1 mutations cause an unspecific phenotype characterized by cognitive deficits of variable degree in males, and to a lesser degree in female carriers. 22002931
2011-08-06 11:01:00 The mutations in this gene are common and do not seem to influence the gene expression so as to cause a change in phenotype. 21736009

名称对应

Type IDs
Synonymous 1A, GDIL, MRX41, MRX48, OPHN2, RABGD1A, RABGDIA, XAP-4
Gene
UniProtKB-ID: GDIA_HUMAN, A0A0S2Z3X8_HUMAN
UniprotKB: P31150, A0A0S2Z3X8
UniParc: UPI000012B39B
EMBL: AB101815, L05086, AB101749, AB101756, AB101790, X79364, AB101784, AB101810, AB101840, X79355, AB101776, AB101807, AB101841, AB101813, AB101811, AB101747, AB102647, AB101753, X79358, AB101743, X79361, U14623, AB101758, X79360, AB101806, AB101812, X79354, L44140, AB101745, AB101848, X79353, AB101843, AB101750, AB101783, AB101838, AB101771, AB101755, AB101786, D45021, AB101773, CH471172, AB101787, KU178091, HM005621, AB101757, AB101845, AB101777, AB101782, AB101774, AB101831, AB101816, AB101839, AB101802, AB101751, X79359, AB101805, AB101804, AB101760, BX936385, AB101788, X79363, AB101846, AB101746, AB101801, AB101779, AB101785, AB101850, AB101849, AB101819, AB101847, CR542276, X79356, AB101789, X79357, AB101741, AB101809, AB101820, AB101759, AB101775, AB101842, X79362, AB101817, AB101780, AB101837, AB101742, AB101781, AB101834, BC000317, AB101752, AB101836, AB101835, BC012201, AB101832, AB101744, CR542258, BT019884, AB101748, AB101844, AB101803, AB101778, AB101772, AB101814, AB101818, AF400433, AB101754, AB101833, AB101808
Ensembl: ENSG00000203879
KO: hsa:2664
Nucleutide sequences
EMBL-CDS: BAC80399.1, BAC80365.1, BAC80390.1, CAA55908.1, BAC80330.1, BAC80408.1, BAC80335.1, BAC80431.1, BAC80396.1, BAC80423.1, BAC80360.1, BAC80424.1, BAC80400.1, BAC80435.1, BAC80338.1, BAC80373.1, BAC80427.1, BAC80372.1, BAC80434.1, BAC80425.1, BAC80377.1, BAC80407.1, BAA08078.1, BAC80364.1, EAW72710.1, BAC80429.1, BAC80404.1, AAH00317.1, BAC80374.1, BAC80394.1, BAC80334.1, BAC80420.1, BAC80343.1, BAC80346.1, BAC80392.1, AAA21558.1, BAC80333.1, CAA55909.1, BAC80432.1, BAC80349.1, BAC80376.1, BAC80331.1, BAC80340.1, BAC80363.1, CAG47054.1, BAC80401.1, BAC80341.1, AAH12201.1, BAC80375.1, BAC80433.1, BAC80395.1, AAA92648.1, BAC80391.1, BAC80421.1, BAC80426.1, BAC81116.1, AAC15851.1, BAC80371.1, BAC80345.1, BAC80378.1, AAK92482.1, BAC80347.1, BAC80403.1, BAC80368.1, BAC80370.1, BAC80393.1, BAC80367.1, BAC80361.1, BAC80439.1, BAC80336.1, BAC80348.1, AAV38687.1, BAC80437.1, BAC80406.1, BAC80430.1, BAC80398.1, BAC80428.1, BAC80397.1, CAG47072.1, BAC80332.1, BAC80402.1, BAC80405.1, BAC80422.1, BAC80369.1, BAC80337.1, BAC80436.1, BAC80438.1, BAC80339.1, BAC80409.1, BAC80366.1, BAC80344.1, BAC80362.1, BAC80379.1, BAC80342.1, AEE61218.1, ALQ33549.1
Ensembl_TRS: ENST00000447750
Protein sequencees
Ensembl_PRO: ENSP00000394071
RefSeq: NP_001484.1
Others
UniRef100: UniRef100_P31150
UniRef90: UniRef90_P31150
UniRef50: UniRef50_P31150
UniGene: Hs.74576, Hs.595950
CCDS: CCDS35452.1

全选

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研究热度

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