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Q13144

- EI2BE_HUMAN

UniProt

Q13144 - EI2BE_HUMAN

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Protein

Translation initiation factor eIF-2B subunit epsilon

Gene

EIF2B5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

GO - Molecular functioni

  1. guanyl-nucleotide exchange factor activity Source: UniProtKB
  2. translation initiation factor activity Source: UniProtKB
  3. translation initiation factor binding Source: UniProtKB

GO - Biological processi

  1. astrocyte development Source: UniProtKB
  2. astrocyte differentiation Source: UniProtKB
  3. cellular protein metabolic process Source: Reactome
  4. cellular response to drug Source: UniProtKB
  5. gene expression Source: Reactome
  6. myelination Source: UniProtKB
  7. negative regulation of translational initiation in response to stress Source: UniProtKB
  8. oligodendrocyte development Source: UniProtKB
  9. ovarian follicle development Source: UniProtKB
  10. positive regulation of GTPase activity Source: GOC
  11. positive regulation of translational initiation Source: UniProtKB
  12. response to endoplasmic reticulum stress Source: UniProtKB
  13. response to glucose Source: UniProtKB
  14. response to heat Source: UniProtKB
  15. response to peptide hormone Source: UniProtKB
  16. translation Source: Reactome
  17. translational initiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Initiation factor

Keywords - Biological processi

Protein biosynthesis

Enzyme and pathway databases

ReactomeiREACT_1815. Recycling of eIF2:GDP.

Names & Taxonomyi

Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit epsilon
Alternative name(s):
eIF-2B GDP-GTP exchange factor subunit epsilon
Gene namesi
Name:EIF2B5
Synonyms:EIF2BE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:3261. EIF2B5.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. eukaryotic translation initiation factor 2B complex Source: UniProtKB
  4. nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621D → V in VWM. 1 Publication
VAR_068457
Natural varianti68 – 681L → S in VWM. 1 Publication
VAR_068458
Natural varianti73 – 731V → G in VWM. 1 Publication
VAR_012323
Natural varianti74 – 741A → T in VWM. 1 Publication
VAR_068459
Natural varianti91 – 911T → A in VWM. 1 Publication
Corresponds to variant rs28939717 [ dbSNP | Ensembl ].
VAR_012291
Natural varianti106 – 1061L → F in VWM. 1 Publication
VAR_012324
Natural varianti113 – 1131R → C in VWM. 1 Publication
VAR_068460
Natural varianti113 – 1131R → H in VWM; with ovarian failure. 3 Publications
Corresponds to variant rs113994049 [ dbSNP | Ensembl ].
VAR_012292
Natural varianti195 – 1951R → C in VWM; with ovarian failure. 1 Publication
VAR_016845
Natural varianti195 – 1951R → H in VWM; Cree leukoencephalopathy type. 1 Publication
VAR_016846
Natural varianti269 – 2691R → G in VWM. 1 Publication
VAR_068461
Natural varianti269 – 2691R → Q in VWM. 1 Publication
VAR_068462
Natural varianti270 – 2701D → H in VWM. 1 Publication
VAR_068463
Natural varianti299 – 2991R → H in VWM. 1 Publication
VAR_012325
Natural varianti310 – 3101C → F in VWM. 1 Publication
VAR_068464
Natural varianti315 – 3151R → C in VWM. 1 Publication
VAR_068465
Natural varianti315 – 3151R → G in VWM. 1 Publication
VAR_012326
Natural varianti315 – 3151R → H in VWM. 1 Publication
VAR_012327
Natural varianti335 – 3351C → R in VWM. 1 Publication
VAR_068466
Natural varianti335 – 3351C → S in VWM. 1 Publication
VAR_068467
Natural varianti339 – 3391R → P in VWM. 2 Publications
VAR_012328
Natural varianti339 – 3391R → Q in VWM. 1 Publication
VAR_012329
Natural varianti339 – 3391R → W in VWM. 1 Publication
VAR_012330
Natural varianti376 – 3761N → D in VWM. 1 Publication
VAR_068468
Natural varianti386 – 3861G → V in VWM. 2 Publications
VAR_012293
Natural varianti430 – 4301V → A in VWM. 1 Publication
VAR_012331
Natural varianti447 – 4471S → L in VWM. 1 Publication
VAR_068469
Natural varianti628 – 6281W → R in VWM. 1 Publication
Corresponds to variant rs28937596 [ dbSNP | Ensembl ].
VAR_012294
Natural varianti650 – 6501E → K in VWM. 1 Publication
VAR_012333

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

MIMi603896. phenotype.
Orphaneti157713. Congenital or early infantile CACH syndrome.
99854. Cree leukoencephalopathy.
157719. Juvenile or adult CACH syndrome.
157716. Late infantile CACH syndrome.
99853. Ovarioleukodystrophy.
PharmGKBiPA27692.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed3 Publications
Chaini2 – 721720Translation initiation factor eIF-2B subunit epsilonPRO_0000156073Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine3 Publications
Modified residuei27 – 271PhosphoserineBy similarity
Cross-linki61 – 61Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki103 – 103Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei130 – 1301PhosphoserineBy similarity
Cross-linki141 – 141Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki217 – 217Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei322 – 3221PhosphothreonineBy similarity
Modified residuei544 – 5441Phosphoserine; by DYRK25 Publications
Modified residuei717 – 7171Phosphoserine1 Publication
Modified residuei718 – 7181Phosphoserine1 Publication

Post-translational modificationi

Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B By similarity. Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function.By similarity7 Publications
Polyubiquitinated, probably by NEDD4.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ13144.
PaxDbiQ13144.
PRIDEiQ13144.

PTM databases

PhosphoSiteiQ13144.

Expressioni

Gene expression databases

BgeeiQ13144.
CleanExiHS_EIF2B5.
ExpressionAtlasiQ13144. baseline and differential.
GenevestigatoriQ13144.

Organism-specific databases

HPAiCAB015412.

Interactioni

Subunit structurei

Complex of five different subunits; alpha, beta, gamma, delta and epsilon. Interacts with RGS2.1 Publication

Protein-protein interaction databases

BioGridi114410. 21 interactions.
IntActiQ13144. 1 interaction.
MINTiMINT-3027192.
STRINGi9606.ENSP00000273783.

Structurei

Secondary structure

1
721
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi548 – 56720
Helixi571 – 58414
Helixi589 – 60214
Helixi603 – 6075
Helixi614 – 63522
Helixi639 – 65517
Helixi657 – 6626
Helixi663 – 67210
Helixi678 – 6858
Helixi693 – 6975
Helixi701 – 71414

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3JUIX-ray2.00A548-721[»]
ProteinModelPortaliQ13144.
SMRiQ13144. Positions 336-431, 547-715.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13144.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini543 – 720178W2PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi505 – 5095Poly-Glu

Sequence similaritiesi

Contains 1 W2 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG1208.
GeneTreeiENSGT00510000047568.
HOGENOMiHOG000216610.
HOVERGENiHBG051460.
InParanoidiQ13144.
KOiK03240.
OMAiESEQSMD.
OrthoDBiEOG7PGDQ9.
PhylomeDBiQ13144.
TreeFamiTF101509.

Family and domain databases

Gene3Di1.25.40.180. 1 hit.
3.90.550.10. 1 hit.
InterProiIPR016024. ARM-type_fold.
IPR001451. Hexapep_transf.
IPR016021. MIF4-like_typ_1/2/3.
IPR029044. Nucleotide-diphossugar_trans.
IPR011004. Trimer_LpxA-like.
IPR003307. W2_domain.
[Graphical view]
PfamiPF00132. Hexapep. 1 hit.
PF02020. W2. 1 hit.
[Graphical view]
SMARTiSM00515. eIF5C. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF51161. SSF51161. 1 hit.
SSF53448. SSF53448. 2 hits.
PROSITEiPS51363. W2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q13144-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD
60 70 80 90 100
SFDRRFFPIS KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA
110 120 130 140 150
QIKEHLLKSK WCRPTSLNVV RIITSELYRS LGDVLRDVDA KALVRSDFLL
160 170 180 190 200
VYGDVISNIN ITRALEEHRL RRKLEKNVSV MTMIFKESSP SHPTRCHEDN
210 220 230 240 250
VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV RYDLLDCHIS
260 270 280 290 300
ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
310 320 330 340 350
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL
360 370 380 390 400
GHGSILEENV LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV
410 420 430 440 450
RVAAGAQIHQ SLLCDNAEVK ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS
460 470 480 490 500
LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM KGYNPAEVGA AGKGYLWKAA
510 520 530 540 550
GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS RGGSPQMDDI
560 570 580 590 600
KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
610 620 630 640 650
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE
660 670 680 690 700
DFFLEHEALG ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN
710 720
QQLQRFIQWL KEAEEESSED D
Length:721
Mass (Da):80,380
Last modified:October 23, 2007 - v3
Checksum:i08B39D3A5EE7D905
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621D → V in VWM. 1 Publication
VAR_068457
Natural varianti68 – 681L → S in VWM. 1 Publication
VAR_068458
Natural varianti73 – 731V → G in VWM. 1 Publication
VAR_012323
Natural varianti74 – 741A → T in VWM. 1 Publication
VAR_068459
Natural varianti91 – 911T → A in VWM. 1 Publication
Corresponds to variant rs28939717 [ dbSNP | Ensembl ].
VAR_012291
Natural varianti106 – 1061L → F in VWM. 1 Publication
VAR_012324
Natural varianti113 – 1131R → C in VWM. 1 Publication
VAR_068460
Natural varianti113 – 1131R → H in VWM; with ovarian failure. 3 Publications
Corresponds to variant rs113994049 [ dbSNP | Ensembl ].
VAR_012292
Natural varianti195 – 1951R → C in VWM; with ovarian failure. 1 Publication
VAR_016845
Natural varianti195 – 1951R → H in VWM; Cree leukoencephalopathy type. 1 Publication
VAR_016846
Natural varianti200 – 2001N → T.
Corresponds to variant rs2971409 [ dbSNP | Ensembl ].
VAR_048919
Natural varianti269 – 2691R → G in VWM. 1 Publication
VAR_068461
Natural varianti269 – 2691R → Q in VWM. 1 Publication
VAR_068462
Natural varianti270 – 2701D → H in VWM. 1 Publication
VAR_068463
Natural varianti299 – 2991R → H in VWM. 1 Publication
VAR_012325
Natural varianti310 – 3101C → F in VWM. 1 Publication
VAR_068464
Natural varianti315 – 3151R → C in VWM. 1 Publication
VAR_068465
Natural varianti315 – 3151R → G in VWM. 1 Publication
VAR_012326
Natural varianti315 – 3151R → H in VWM. 1 Publication
VAR_012327
Natural varianti335 – 3351C → R in VWM. 1 Publication
VAR_068466
Natural varianti335 – 3351C → S in VWM. 1 Publication
VAR_068467
Natural varianti339 – 3391R → P in VWM. 2 Publications
VAR_012328
Natural varianti339 – 3391R → Q in VWM. 1 Publication
VAR_012329
Natural varianti339 – 3391R → W in VWM. 1 Publication
VAR_012330
Natural varianti376 – 3761N → D in VWM. 1 Publication
VAR_068468
Natural varianti386 – 3861G → V in VWM. 2 Publications
VAR_012293
Natural varianti430 – 4301V → A in VWM. 1 Publication
VAR_012331
Natural varianti447 – 4471S → L in VWM. 1 Publication
VAR_068469
Natural varianti587 – 5871I → V.5 Publications
Corresponds to variant rs843358 [ dbSNP | Ensembl ].
VAR_012332
Natural varianti628 – 6281W → R in VWM. 1 Publication
Corresponds to variant rs28937596 [ dbSNP | Ensembl ].
VAR_012294
Natural varianti650 – 6501E → K in VWM. 1 Publication
VAR_012333

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK091646 mRNA. Translation: BAC03712.1.
AC131235 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78299.1.
BC013590 mRNA. Translation: AAH13590.1.
U23028 mRNA. Translation: AAC50646.1.
CCDSiCCDS3252.1.
RefSeqiNP_003898.2. NM_003907.2.
UniGeneiHs.283551.

Genome annotation databases

EnsembliENST00000273783; ENSP00000273783; ENSG00000145191.
GeneIDi8893.
KEGGihsa:8893.
UCSCiuc003fmp.3. human.

Polymorphism databases

DMDMi160359049.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mendelian genes eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK091646 mRNA. Translation: BAC03712.1 .
AC131235 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78299.1 .
BC013590 mRNA. Translation: AAH13590.1 .
U23028 mRNA. Translation: AAC50646.1 .
CCDSi CCDS3252.1.
RefSeqi NP_003898.2. NM_003907.2.
UniGenei Hs.283551.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3JUI X-ray 2.00 A 548-721 [» ]
ProteinModelPortali Q13144.
SMRi Q13144. Positions 336-431, 547-715.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114410. 21 interactions.
IntActi Q13144. 1 interaction.
MINTi MINT-3027192.
STRINGi 9606.ENSP00000273783.

PTM databases

PhosphoSitei Q13144.

Polymorphism databases

DMDMi 160359049.

Proteomic databases

MaxQBi Q13144.
PaxDbi Q13144.
PRIDEi Q13144.

Protocols and materials databases

DNASUi 8893.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273783 ; ENSP00000273783 ; ENSG00000145191 .
GeneIDi 8893.
KEGGi hsa:8893.
UCSCi uc003fmp.3. human.

Organism-specific databases

CTDi 8893.
GeneCardsi GC03P183852.
GeneReviewsi EIF2B5.
H-InvDB HIX0003921.
HGNCi HGNC:3261. EIF2B5.
HPAi CAB015412.
MIMi 603896. phenotype.
603945. gene.
neXtProti NX_Q13144.
Orphaneti 157713. Congenital or early infantile CACH syndrome.
99854. Cree leukoencephalopathy.
157719. Juvenile or adult CACH syndrome.
157716. Late infantile CACH syndrome.
99853. Ovarioleukodystrophy.
PharmGKBi PA27692.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1208.
GeneTreei ENSGT00510000047568.
HOGENOMi HOG000216610.
HOVERGENi HBG051460.
InParanoidi Q13144.
KOi K03240.
OMAi ESEQSMD.
OrthoDBi EOG7PGDQ9.
PhylomeDBi Q13144.
TreeFami TF101509.

Enzyme and pathway databases

Reactomei REACT_1815. Recycling of eIF2:GDP.

Miscellaneous databases

EvolutionaryTracei Q13144.
GeneWikii EIF2B5.
GenomeRNAii 8893.
NextBioi 33399.
PROi Q13144.
SOURCEi Search...

Gene expression databases

Bgeei Q13144.
CleanExi HS_EIF2B5.
ExpressionAtlasi Q13144. baseline and differential.
Genevestigatori Q13144.

Family and domain databases

Gene3Di 1.25.40.180. 1 hit.
3.90.550.10. 1 hit.
InterProi IPR016024. ARM-type_fold.
IPR001451. Hexapep_transf.
IPR016021. MIF4-like_typ_1/2/3.
IPR029044. Nucleotide-diphossugar_trans.
IPR011004. Trimer_LpxA-like.
IPR003307. W2_domain.
[Graphical view ]
Pfami PF00132. Hexapep. 1 hit.
PF02020. W2. 1 hit.
[Graphical view ]
SMARTi SM00515. eIF5C. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
SSF51161. SSF51161. 1 hit.
SSF53448. SSF53448. 2 hits.
PROSITEi PS51363. W2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-587.
    Tissue: Brain.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-587.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-587.
    Tissue: Lung.
  5. "Cloning and characterization of cDNAs encoding the epsilon-subunit of eukaryotic initiation factor-2B from rabbit and human."
    Asuru A.I., Mellor H., Thomas N.S.B., Yu L., Chen J.-J., Crosby J.S., Hartson S.D., Kimball S.R., Jefferson L.S., Matts R.L.
    Biochim. Biophys. Acta 1307:309-317(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-721, VARIANT VAL-587.
  6. "Glycogen synthase kinase-3 is rapidly inactivated in response to insulin and phosphorylates eukaryotic initiation factor eIF-2B."
    Welsh G.I., Proud C.G.
    Biochem. J. 294:625-629(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION BY GSK3B.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  11. Cited for: INTERACTION WITH RGS2.
  12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-717 AND SER-718, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. Cited for: VARIANTS VWM GLY-73; ALA-91; PHE-106; HIS-113; HIS-299; GLY-315; HIS-315; PRO-339; GLN-339; TRP-339; VAL-386; ALA-430; ARG-628 AND LYS-650, VARIANT VAL-587.
  19. Cited for: VARIANT VWM HIS-195.
  20. Cited for: VARIANTS VWM HIS-113 AND CYS-195.
  21. "Identification of ten novel mutations in patients with eIF2B-related disorders."
    Ohlenbusch A., Henneke M., Brockmann K., Goerg M., Hanefeld F., Kohlschutter A., Gartner J.
    Hum. Mutat. 25:411-411(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VWM SER-68; THR-74; HIS-113; GLY-269; PHE-310 AND ARG-335.
  22. "Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease."
    Wu Y., Pan Y., Du L., Wang J., Gu Q., Gao Z., Li J., Leng X., Qin J., Wu X., Jiang Y.
    J. Hum. Genet. 54:74-77(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VWM VAL-62; CYS-113; GLN-269; CYS-315; SER-335; PRO-339; ASP-376; VAL-386 AND LEU-447.
  23. "Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5."
    Matsukawa T., Wang X., Liu R., Wortham N.C., Onuki Y., Kubota A., Hida A., Kowa H., Fukuda Y., Ishiura H., Mitsui J., Takahashi Y., Aoki S., Takizawa S., Shimizu J., Goto J., Proud C.G., Tsuji S.
    Neurogenetics 12:259-261(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VWM HIS-270.

Entry informationi

Entry nameiEI2BE_HUMAN
AccessioniPrimary (citable) accession number: Q13144
Secondary accession number(s): Q541Z1, Q96D04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 23, 2007
Last modified: October 29, 2014
This is version 145 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3