InnateDB Protein
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IDBP-67401.6
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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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EIF2B5
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Protein Name
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eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
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Synonyms
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CACH; CLE; EIF-2B; EIF2Bepsilon; LVWM;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000273783
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InnateDB Gene
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IDBG-67399 (EIF2B5)
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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:11704758, ECO:0000269PubMed:12325082, ECO:0000269PubMed:12707859, ECO:0000269PubMed:15776425, 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 13 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
13
[view]
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Protein-Protein |
13
[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 |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003307
W2 domain
IPR011004
Trimeric LpxA-like
IPR016024
Armadillo-type fold
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF02020
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PRINTS |
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PIRSF |
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SMART |
SM00515
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TIGRFAMs |
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Modification |
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SwissProt |
Q13144
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PhosphoSite |
PhosphoSite-Q13144
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TrEMBL |
C9JRD9
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UniProt Splice Variant |
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Entrez Gene |
8893
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UniGene |
Hs.608550
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RefSeq |
NP_003898
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HUGO |
HGNC:3261
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OMIM |
603945
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CCDS |
CCDS3252
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HPRD |
04898
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IMGT |
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EMBL |
AC061705
AC078797
AC112643
AC117455
AC128714
AC131235
AK091646
BC013590
CH471052
U23028
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GenPept |
AAC50646
AAH13590
BAC03712
EAW78299
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