(data stored in ACNUC6288 zone)

HOGENOM: HS2_PE682

ID   HS2_PE682                            STANDARD;      PRT;   523 AA.
AC   HS2_PE682; Q9UI10; Q53RY7; Q5BJF4; Q9BUV9; Q9UBG4; Q9UIQ9; Q9UJ95;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Translation initiation factor eIF-2B subunit delta;AltName:
DE   Full=eIF-2B GDP-GTP exchange factor subunit delta; (HS2.PE682).
GN   Name=EIF2B4; Synonyms=EIF2BD;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS2.PE682.
CC       Homo sapiens chromosome 2 GRCh37  sequence 1..243189373 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:EI2BD_HUMAN
CC   -!- FUNCTION: Catalyzes the exchange of eukaryotic initiation factor
CC       2-bound GDP for GTP.
CC   -!- SUBUNIT: Complex of five different subunits; alpha, beta, gamma,
CC       delta and epsilon.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9UI10-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9UI10-2; Sequence=VSP_001433, VSP_040130;
CC       Name=3;
CC         IsoId=Q9UI10-3; Sequence=VSP_040130;
CC   -!- DISEASE: Defects in EIF2B4 are a cause of leukodystrophy with
CC       vanishing white matter (VWM) [MIM:603896]. VWM is a leukodystrophy
CC       that occurs mainly in children. Neurological signs include
CC       progressive cerebellar ataxia, spasticity, inconstant optic
CC       atrophy and relatively preserved mental abilities. The disease is
CC       chronic-progressive with, in most individuals, additional episodes
CC       of rapid deterioration following febrile infections or minor head
CC       trauma. While childhood onset is the most common form of the
CC       disorder, some severe forms are apparent at birth. A severe,
CC       early-onset form seen among the Cree and Chippewayan populations
CC       of Quebec and Manitoba is called Cree leukoencephalopathy. Milder
CC       forms may not become evident until adolescence or adulthood. Some
CC       females with milder forms of the disease who survive to
CC       adolescence exhibit ovarian dysfunction. This variant of the
CC       disorder is called ovarioleukodystrophy.
CC   -!- SIMILARITY: Belongs to the eIF-2B alpha/beta/delta subunits
CC       family.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=CAB57305.1; Type=Erroneous gene model prediction;
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B4";
CC   -!- GENE_FAMILY: HOG000176924 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000115211;ENST00000347454;ENSP00000233552.
DR   EMBL; AF112207; - ;
DR   EMBL; AF218009; - ;
DR   EMBL; AJ011305; - ;
DR   EMBL; AJ011306; - ;
DR   EMBL; AJ011307; - ;
DR   EMBL; AJ011308; - ;
DR   EMBL; AL050109; - ;
DR   EMBL; BC001870; - ;
DR   EMBL; BC091502; - ;
DR   UniProtKB/Swiss-Prot; Q9UI10; Q53RY7; Q5BJF4; Q9BUV9; Q9UBG4; Q9UIQ9; Q9UJ95; -.
DR   EMBL; AF112207; AAF17195.1; -; mRNA.
DR   EMBL; AJ011305; CAB57260.1; -; mRNA.
DR   EMBL; AJ011306; CAB57261.1; -; mRNA.
DR   EMBL; AJ011307; CAB57304.1; -; Genomic_DNA.
DR   EMBL; AJ011308; CAB57304.1; JOINED; Genomic_DNA.
DR   EMBL; AJ011307; CAB57305.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; AJ011308; CAB57305.1; JOINED; Genomic_DNA.
DR   EMBL; AC074117; AAY14843.1; -; Genomic_DNA.
DR   EMBL; CH471053; EAX00591.1; -; Genomic_DNA.
DR   EMBL; BC001870; AAH01870.1; -; mRNA.
DR   EMBL; BC091502; AAH91502.1; -; mRNA.
DR   IPI; IPI00005979; -.
DR   IPI; IPI00220232; -.
DR   IPI; IPI00654843; -.
DR   RefSeq; NP_001029288.1; NM_001034116.1.
DR   RefSeq; NP_056451.3; NM_015636.3.
DR   RefSeq; NP_751945.2; NM_172195.3.
DR   UniGene; Hs.169474; -.
DR   ProteinModelPortal; Q9UI10; -.
DR   SMR; Q9UI10; 202-518.
DR   IntAct; Q9UI10; 2.
DR   STRING; Q9UI10; -.
DR   PhosphoSite; Q9UI10; -.
DR   PRIDE; Q9UI10; -.
DR   Ensembl; ENST00000347454; ENSP00000233552; ENSG00000115211.
DR   GeneID; 8890; -.
DR   KEGG; hsa:8890; -.
DR   UCSC; uc002rkb.1; human.
DR   CTD; 8890; -.
DR   GeneCards; GC02M027329; -.
DR   H-InvDB; HIX0001919; -.
DR   HGNC; HGNC:3260; EIF2B4.
DR   HPA; CAB032234; -.
DR   MIM; 603896; phenotype.
DR   MIM; 606687; gene.
DR   neXtProt; NX_Q9UI10; -.
DR   Orphanet; 99854; Cree leukoencephalopathy.
DR   Orphanet; 157716; Late infantile CACH syndrome.
DR   Orphanet; 99853; Ovarioleukodystrophy.
DR   InParanoid; Q9UI10; -.
DR   OMA; DDLQCKR; -.
DR   PhylomeDB; Q9UI10; -.
DR   Reactome; REACT_17015; Metabolism of proteins.
DR   Reactome; REACT_71; Gene Expression.
DR   NextBio; 33383; -.
DR   ArrayExpress; Q9UI10; -.
DR   Bgee; Q9UI10; -.
DR   CleanEx; HS_EIF2B4; -.
DR   Genevestigator; Q9UI10; -.
DR   GermOnline; ENSG00000115211; Homo sapiens.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005851; C:eukaryotic translation initiation factor 2B complex; IDA:UniProtKB.
DR   GO; GO:0003743; F:translation initiation factor activity; IEA:UniProtKB-KW.
DR   GO; GO:0031369; F:translation initiation factor binding; ISS:UniProtKB.
DR   GO; GO:0042552; P:myelination; IMP:UniProtKB.
DR   GO; GO:0032057; P:negative regulation of translational initiation in response to stress; ISS:UniProtKB.
DR   GO; GO:0014003; P:oligodendrocyte development; IMP:UniProtKB.
DR   GO; GO:0001541; P:ovarian follicle development; IMP:UniProtKB.
DR   GO; GO:0009749; P:response to glucose stimulus; ISS:UniProtKB.
DR   GO; GO:0009408; P:response to heat; ISS:UniProtKB.
DR   GO; GO:0043434; P:response to peptide hormone stimulus; ISS:UniProtKB.
DR   InterPro; IPR000649; IF-2B-related.
DR   PANTHER; PTHR10233; IF-2B_related; 1.
DR   Pfam; PF01008; IF-2B; 1.
DR   HOGENOMDNA; HS2.PE682; -.
KW   ENSG000001152111755old_1320000031; ENSP000002335527901old_1320000031;
KW   Q9HBP7_HUMAN; Q9Y3W7_HUMAN; AF112207; AF218009; AJ011305; AJ011306;
KW   AJ011308; AL050109; BC001870; BC091502;
KW   Alternative splicing; Complete proteome; Disease mutation;
KW   Initiation factor; Leukodystrophy; Phosphoprotein; Polymorphism;
KW   Protein biosynthesis; Reference proteome.
SQ   SEQUENCE   523 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MAAVAVAVRE DSGSGMKAEL PPGPGAVGRE MTKEEKLQLR KEKKQQKKKR KEEKGAEPET
     GSAVSAAQCQ VGPTRELPES GIQLGTPREK VPAGRSKAEL RAERRAKQEA ERALKQARKG
     EQGGPPPKAS PSTAGETPSG VKRLPEYPQV DDLLLRRLVK KPERQQVPTR KDYGSKVSLF
     SHLPQYSRQN SLTQFMSIPS SVIHPAMVRL GLQYSQGLVS GSNARCIALL RALQQVIQDY
     TTPPNEELSR DLVNKLKPYM SFLTQCRPLS ASMHNAIKFL NKEITSVGSS KREEEAKSEL
     RAAIDRYVQE KIVLAAQAIS RFAYQKISNG DVILVYGCSS LVSRILQEAW TEGRRFRVVV
     VDSRPWLEGR HTLRSLVHAG VPASYLLIPA ASYVLPEVSK VLLGAHALLA NGSVMSRVGT
     AQLALVARAH NVPVLVCCET YKFCERVQTD AFVSNELDDP DDLQCKRGEH VALANWQNHA
     SLRLLNLVYD VTPPELVDLV ITELGMIPCS SVPVVLRVKS SDQ
//

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