InnateDB Protein
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IDBP-97832.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EIF2B3
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Protein Name
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eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
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Synonyms
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EIF-2B; EIF2Bgamma;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000353575
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InnateDB Gene
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IDBG-97830 (EIF2B3)
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Protein Structure
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Function |
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
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Subcellular Localization |
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Disease Associations |
Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269PubMed:11835386, ECO:0000269PubMed:19158808, ECO:0000269PubMed:21484434}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
31
[view]
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Protein-Protein |
31
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003743
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translation initiation factor activity
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GO:0005085
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guanyl-nucleotide exchange factor activity
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GO:0005515
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protein binding
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GO:0008135
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translation factor activity, nucleic acid binding
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GO:0016779
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nucleotidyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005835
Nucleotidyl transferase
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF00483
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NR50
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PhosphoSite |
PhosphoSite-Q9NR50
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TrEMBL |
Q9HA31
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UniProt Splice Variant |
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Entrez Gene |
8891
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UniGene |
Hs.533549
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RefSeq |
NP_065098
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HUGO |
HGNC:3259
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OMIM |
606273
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CCDS |
CCDS517
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HPRD |
09379
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IMGT |
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EMBL |
AF257077
AK022399
AK024006
AK314668
AL136380
AL834288
BC018728
CH471059
CR457285
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GenPept |
AAF91351
AAH18728
BAB14027
BAB14770
BAG37225
CAD38962
CAG33566
CAI23131
CAI23132
EAX07013
EAX07015
EAX07016
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