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Q9UI10

- EI2BD_HUMAN

UniProt

Q9UI10 - EI2BD_HUMAN

Protein

Translation initiation factor eIF-2B subunit delta

Gene

EIF2B4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 2 (12 Feb 2003)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. translation initiation factor activity Source: UniProtKB-KW
    3. translation initiation factor binding Source: UniProtKB

    GO - Biological processi

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

    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 delta
    Alternative name(s):
    eIF-2B GDP-GTP exchange factor subunit delta
    Gene namesi
    Name:EIF2B4
    Synonyms:EIF2BD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:3260. EIF2B4.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Reactome
    3. eukaryotic translation initiation factor 2B complex Source: UniProtKB

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091R → Q in VWM. 1 Publication
    VAR_068455
    Natural varianti228 – 2281A → V in VWM. 1 Publication
    VAR_015405
    Natural varianti269 – 2691L → R in VWM. 1 Publication
    VAR_068456
    Natural varianti357 – 3571R → Q in VWM. 1 Publication
    VAR_015407
    Natural varianti374 – 3741R → C in VWM. 2 Publications
    VAR_015408
    Natural varianti465 – 4651C → R in VWM; with ovarian failure. 1 Publication
    VAR_016843
    Natural varianti489 – 4891Y → H in VWM; with ovarian failure. 1 Publication
    VAR_016844

    Keywords - Diseasei

    Disease mutation, Leukodystrophy

    Organism-specific databases

    MIMi603896. phenotype.
    Orphaneti99854. Cree leukoencephalopathy.
    157716. Late infantile CACH syndrome.
    99853. Ovarioleukodystrophy.
    PharmGKBiPA27691.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 523522Translation initiation factor eIF-2B subunit deltaPRO_0000156067Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei86 – 861Phosphothreonine3 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UI10.
    PaxDbiQ9UI10.
    PRIDEiQ9UI10.

    PTM databases

    PhosphoSiteiQ9UI10.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UI10.
    BgeeiQ9UI10.
    CleanExiHS_EIF2B4.
    GenevestigatoriQ9UI10.

    Organism-specific databases

    HPAiCAB032234.
    HPA039993.

    Interactioni

    Subunit structurei

    Complex of five different subunits; alpha, beta, gamma, delta and epsilon.

    Protein-protein interaction databases

    BioGridi114407. 7 interactions.
    IntActiQ9UI10. 7 interactions.
    MINTiMINT-4990902.
    STRINGi9606.ENSP00000394869.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UI10.
    SMRiQ9UI10. Positions 219-517.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1184.
    HOGENOMiHOG000176924.
    HOVERGENiHBG051459.
    InParanoidiQ9UI10.
    KOiK03680.
    OrthoDBiEOG7XSTF0.
    PhylomeDBiQ9UI10.
    TreeFamiTF101508.

    Family and domain databases

    InterProiIPR000649. IF-2B-related.
    [Graphical view]
    PfamiPF01008. IF-2B. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UI10-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAVAVAVRE DSGSGMKAEL PPGPGAVGRE MTKEEKLQLR KEKKQQKKKR    50
    KEEKGAEPET GSAVSAAQCQ VGPTRELPES GIQLGTPREK VPAGRSKAEL 100
    RAERRAKQEA ERALKQARKG EQGGPPPKAS PSTAGETPSG VKRLPEYPQV 150
    DDLLLRRLVK KPERQQVPTR KDYGSKVSLF SHLPQYSRQN SLTQFMSIPS 200
    SVIHPAMVRL GLQYSQGLVS GSNARCIALL RALQQVIQDY TTPPNEELSR 250
    DLVNKLKPYM SFLTQCRPLS ASMHNAIKFL NKEITSVGSS KREEEAKSEL 300
    RAAIDRYVQE KIVLAAQAIS RFAYQKISNG DVILVYGCSS LVSRILQEAW 350
    TEGRRFRVVV VDSRPWLEGR HTLRSLVHAG VPASYLLIPA ASYVLPEVSK 400
    VLLGAHALLA NGSVMSRVGT AQLALVARAH NVPVLVCCET YKFCERVQTD 450
    AFVSNELDDP DDLQCKRGEH VALANWQNHA SLRLLNLVYD VTPPELVDLV 500
    ITELGMIPCS SVPVVLRVKS SDQ 523
    Length:523
    Mass (Da):57,557
    Last modified:February 12, 2003 - v2
    Checksum:i5F38CF10CAD5A45E
    GO
    Isoform 2 (identifier: Q9UI10-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-10: MAAVAVAVRE → MPTQQPAAPSTRAPKPSRSLSGSLCALFSDA
         71-71: Missing.

    Show »
    Length:543
    Mass (Da):59,615
    Checksum:iC65253AD9431E074
    GO
    Isoform 3 (identifier: Q9UI10-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         71-71: Missing.

    Show »
    Length:522
    Mass (Da):57,458
    Checksum:iD9A7E6FD35CD75F1
    GO

    Sequence cautioni

    The sequence CAB57305.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti197 – 1971S → T in CAB57260. 1 PublicationCurated
    Sequence conflicti197 – 1971S → T in CAB57261. 1 PublicationCurated
    Sequence conflicti197 – 1971S → T in CAB57304. 1 PublicationCurated
    Sequence conflicti197 – 1971S → T in CAB57305. 1 PublicationCurated
    Sequence conflicti323 – 3231A → S in AAF17195. (PubMed:10931946)Curated
    Sequence conflicti481 – 4811S → L in AAF17195. (PubMed:10931946)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti93 – 931A → V.
    Corresponds to variant rs34155621 [ dbSNP | Ensembl ].
    VAR_048918
    Natural varianti209 – 2091R → Q in VWM. 1 Publication
    VAR_068455
    Natural varianti228 – 2281A → V in VWM. 1 Publication
    VAR_015405
    Natural varianti269 – 2691L → R in VWM. 1 Publication
    VAR_068456
    Natural varianti306 – 3061R → G.1 Publication
    Corresponds to variant rs78599355 [ dbSNP | Ensembl ].
    VAR_015406
    Natural varianti357 – 3571R → Q in VWM. 1 Publication
    VAR_015407
    Natural varianti374 – 3741R → C in VWM. 2 Publications
    VAR_015408
    Natural varianti465 – 4651C → R in VWM; with ovarian failure. 1 Publication
    VAR_016843
    Natural varianti489 – 4891Y → H in VWM; with ovarian failure. 1 Publication
    VAR_016844

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1010MAAVAVAVRE → MPTQQPAAPSTRAPKPSRSL SGSLCALFSDA in isoform 2. 1 PublicationVSP_001433
    Alternative sequencei71 – 711Missing in isoform 2 and isoform 3. 1 PublicationVSP_040130

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF112207 mRNA. Translation: AAF17195.1.
    AJ011305 mRNA. Translation: CAB57260.1.
    AJ011306 mRNA. Translation: CAB57261.1.
    AJ011307, AJ011308 Genomic DNA. Translation: CAB57304.1.
    AJ011307, AJ011308 Genomic DNA. Translation: CAB57305.1. Sequence problems.
    AC074117 Genomic DNA. Translation: AAY14843.1.
    CH471053 Genomic DNA. Translation: EAX00591.1.
    BC001870 mRNA. Translation: AAH01870.1.
    BC091502 mRNA. Translation: AAH91502.1.
    CCDSiCCDS33164.1. [Q9UI10-1]
    CCDS46244.1. [Q9UI10-3]
    CCDS46245.1. [Q9UI10-2]
    RefSeqiNP_001029288.1. NM_001034116.1. [Q9UI10-1]
    NP_056451.3. NM_015636.3. [Q9UI10-3]
    NP_751945.2. NM_172195.3. [Q9UI10-2]
    UniGeneiHs.169474.

    Genome annotation databases

    EnsembliENST00000347454; ENSP00000233552; ENSG00000115211. [Q9UI10-1]
    ENST00000445933; ENSP00000394397; ENSG00000115211. [Q9UI10-3]
    ENST00000451130; ENSP00000394869; ENSG00000115211. [Q9UI10-2]
    GeneIDi8890.
    KEGGihsa:8890.
    UCSCiuc002rjz.3. human. [Q9UI10-2]
    uc002rka.3. human. [Q9UI10-1]
    uc002rkc.3. human. [Q9UI10-3]

    Polymorphism databases

    DMDMi28381357.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mendelian genes eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF112207 mRNA. Translation: AAF17195.1 .
    AJ011305 mRNA. Translation: CAB57260.1 .
    AJ011306 mRNA. Translation: CAB57261.1 .
    AJ011307 , AJ011308 Genomic DNA. Translation: CAB57304.1 .
    AJ011307 , AJ011308 Genomic DNA. Translation: CAB57305.1 . Sequence problems.
    AC074117 Genomic DNA. Translation: AAY14843.1 .
    CH471053 Genomic DNA. Translation: EAX00591.1 .
    BC001870 mRNA. Translation: AAH01870.1 .
    BC091502 mRNA. Translation: AAH91502.1 .
    CCDSi CCDS33164.1. [Q9UI10-1 ]
    CCDS46244.1. [Q9UI10-3 ]
    CCDS46245.1. [Q9UI10-2 ]
    RefSeqi NP_001029288.1. NM_001034116.1. [Q9UI10-1 ]
    NP_056451.3. NM_015636.3. [Q9UI10-3 ]
    NP_751945.2. NM_172195.3. [Q9UI10-2 ]
    UniGenei Hs.169474.

    3D structure databases

    ProteinModelPortali Q9UI10.
    SMRi Q9UI10. Positions 219-517.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114407. 7 interactions.
    IntActi Q9UI10. 7 interactions.
    MINTi MINT-4990902.
    STRINGi 9606.ENSP00000394869.

    PTM databases

    PhosphoSitei Q9UI10.

    Polymorphism databases

    DMDMi 28381357.

    Proteomic databases

    MaxQBi Q9UI10.
    PaxDbi Q9UI10.
    PRIDEi Q9UI10.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000347454 ; ENSP00000233552 ; ENSG00000115211 . [Q9UI10-1 ]
    ENST00000445933 ; ENSP00000394397 ; ENSG00000115211 . [Q9UI10-3 ]
    ENST00000451130 ; ENSP00000394869 ; ENSG00000115211 . [Q9UI10-2 ]
    GeneIDi 8890.
    KEGGi hsa:8890.
    UCSCi uc002rjz.3. human. [Q9UI10-2 ]
    uc002rka.3. human. [Q9UI10-1 ]
    uc002rkc.3. human. [Q9UI10-3 ]

    Organism-specific databases

    CTDi 8890.
    GeneCardsi GC02M027587.
    GeneReviewsi EIF2B4.
    HGNCi HGNC:3260. EIF2B4.
    HPAi CAB032234.
    HPA039993.
    MIMi 603896. phenotype.
    606687. gene.
    neXtProti NX_Q9UI10.
    Orphaneti 99854. Cree leukoencephalopathy.
    157716. Late infantile CACH syndrome.
    99853. Ovarioleukodystrophy.
    PharmGKBi PA27691.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1184.
    HOGENOMi HOG000176924.
    HOVERGENi HBG051459.
    InParanoidi Q9UI10.
    KOi K03680.
    OrthoDBi EOG7XSTF0.
    PhylomeDBi Q9UI10.
    TreeFami TF101508.

    Enzyme and pathway databases

    Reactomei REACT_1815. Recycling of eIF2:GDP.

    Miscellaneous databases

    GeneWikii EIF2B4.
    GenomeRNAii 8890.
    NextBioi 33383.
    PROi Q9UI10.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UI10.
    Bgeei Q9UI10.
    CleanExi HS_EIF2B4.
    Genevestigatori Q9UI10.

    Family and domain databases

    InterProi IPR000649. IF-2B-related.
    [Graphical view ]
    Pfami PF01008. IF-2B. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Adrenal gland.
    2. "cDNA cloning, genomic organization and chromosomal localization of the human eIF2B delta subunit."
      Wightman P.J., Bonthron D.T.
      Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3).
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Lung and Testis.
    6. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-86, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "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 THR-86, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "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 THR-86, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    13. "Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter."
      van der Knaap M.S., Leegwater P.A.J., Koenst A.A.M., Visser A., Naidu S., Oudejans C.B.M., Schutgens R.B.H., Pronk J.C.
      Ann. Neurol. 51:264-270(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWM VAL-228; GLN-357 AND CYS-374, VARIANT GLY-306.
    14. Cited for: VARIANTS VWM ARG-465 AND HIS-489.
    15. "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 GLN-209; ARG-269 AND CYS-374.

    Entry informationi

    Entry nameiEI2BD_HUMAN
    AccessioniPrimary (citable) accession number: Q9UI10
    Secondary accession number(s): Q53RY7
    , Q5BJF4, Q9BUV9, Q9UBG4, Q9UIQ9, Q9UJ95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: February 12, 2003
    Last modified: October 1, 2014
    This is version 127 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3