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Q9BZG8

- DPH1_HUMAN

UniProt

Q9BZG8 - DPH1_HUMAN

Protein

Diphthamide biosynthesis protein 1

Gene

DPH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers By similarity. Plays a role in embryonic growth, organogenesis and postnatal survival By similarity.By similarity

    Pathwayi

    GO - Biological processi

    1. cell proliferation Source: Ensembl
    2. peptidyl-diphthamide biosynthetic process from peptidyl-histidine Source: UniProtKB-UniPathway
    3. translation Source: ProtInc

    Enzyme and pathway databases

    UniPathwayiUPA00559.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Diphthamide biosynthesis protein 1
    Alternative name(s):
    DPH1 homolog
    Short name:
    HsDph1
    Diphthamide biosynthesis protein 2 homolog-like 1
    Short name:
    DPH-like 1
    Short name:
    DPH2-like 1
    Short name:
    Diphthamide biosynthesis protein 2-like
    Ovarian cancer-associated gene 1 protein
    Gene namesi
    Name:DPH1
    Synonyms:DPH2L, DPH2L1, OVCA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:3003. DPH1.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication
    Note: Punctate, primarily perinuclear localization.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Keywords - Diseasei

    Tumor suppressor

    Organism-specific databases

    PharmGKBiPA27461.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 443443Diphthamide biosynthesis protein 1PRO_0000307882Add
    BLAST

    Proteomic databases

    MaxQBiQ9BZG8.
    PaxDbiQ9BZG8.
    PRIDEiQ9BZG8.

    PTM databases

    PhosphoSiteiQ9BZG8.

    Expressioni

    Tissue specificityi

    Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian tumors.2 Publications

    Gene expression databases

    ArrayExpressiQ9BZG8.
    BgeeiQ9BZG8.
    CleanExiHS_DPH1.
    GenevestigatoriQ9BZG8.

    Interactioni

    Subunit structurei

    Interacts with DPH2 By similarity. Interacts with RBM8A.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi108135. 8 interactions.
    STRINGi9606.ENSP00000263083.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZG8.
    SMRiQ9BZG8. Positions 61-372.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DPH1/DPH2 family. DPH1 subfamily.Curated

    Phylogenomic databases

    eggNOGiCOG1736.
    HOGENOMiHOG000164743.
    HOVERGENiHBG107822.
    InParanoidiQ9BZG8.
    KOiK07561.
    OMAiDILTQFC.
    OrthoDBiEOG7VX8VX.
    PhylomeDBiQ9BZG8.
    TreeFamiTF105746.

    Family and domain databases

    InterProiIPR002728. DPH1/DPH2.
    IPR016435. DPH1_eu/DPH2_arc.
    [Graphical view]
    PANTHERiPTHR10762. PTHR10762. 1 hit.
    PTHR10762:SF1. PTHR10762:SF1. 1 hit.
    PfamiPF01866. Diphthamide_syn. 1 hit.
    [Graphical view]
    PIRSFiPIRSF004967. DPH1. 1 hit.
    TIGRFAMsiTIGR00322. diphth2_R. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BZG8-1) [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

    MRRQVMAALV VSGAAEQGGR DGPGRGRAPR GRVANQIPPE ILKNPQLQAA    50
    IRVLPSNYNF EIPKTIWRIQ QAQAKKVALQ MPEGLLLFAC TIVDILERFT 100
    EAEVMVMGDV TYGACCVDDF TARALGADFL VHYGHSCLIP MDTSAQDFRV 150
    LYVFVDIRID TTHLLDSLRL TFPPATALAL VSTIQFVSTL QAAAQELKAE 200
    YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH LESVMIANPN 250
    VPAYRYDPYS KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ 300
    GSPKILEHLE SRLRALGLSF VRLLLSEIFP SKLSLLPEVD VWVQVACPRL 350
    SIDWGTAFPK PLLTPYEAAV ALRDISWQQP YPMDFYAGSS LGPWTVNHGQ 400
    DRRPHAPGRP ARGKVQEGSA RPPSAVACED CSCRDEKVAP LAP 443
    Length:443
    Mass (Da):48,805
    Last modified:November 24, 2009 - v2
    Checksum:i6AF0FD0D8EE35E2D
    GO
    Isoform 2 (identifier: Q9BZG8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-80: Missing.

    Show »
    Length:363
    Mass (Da):40,040
    Checksum:i4BBD3117060A0841
    GO
    Isoform 3 (identifier: Q9BZG8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-140: Missing.

    Show »
    Length:303
    Mass (Da):33,516
    Checksum:i9896AAF8EC70CE26
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81A → V in AAK13428. (PubMed:10519411)Curated
    Sequence conflicti162 – 1621T → I in AAH96088. (PubMed:15489334)Curated
    Sequence conflicti358 – 3581F → S in AAD10198. (PubMed:8603384)Curated
    Sequence conflicti358 – 3581F → S in AAB36297. (PubMed:8603384)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71A → V in breast and ovarian cancer. 1 Publication
    VAR_036702
    Natural varianti34 – 341A → D in breast and ovarian cancer. 1 Publication
    VAR_036703
    Natural varianti51 – 511I → M.
    Corresponds to variant rs8070453 [ dbSNP | Ensembl ].
    VAR_059255
    Natural varianti226 – 2261K → R.1 Publication
    Corresponds to variant rs1131600 [ dbSNP | Ensembl ].
    VAR_055706
    Natural varianti335 – 3351L → V in breast and ovarian cancer; requires 2 nucleotide substitutions. 1 Publication
    Corresponds to variant rs35394823 [ dbSNP | Ensembl ].
    VAR_036704
    Natural varianti389 – 3891S → R in breast and ovarian cancer. 1 Publication
    VAR_036705

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 140140Missing in isoform 3. 1 PublicationVSP_028851Add
    BLAST
    Alternative sequencei1 – 8080Missing in isoform 2. 1 PublicationVSP_028852Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S81752 mRNA. Translation: AAB36297.1.
    U34880 mRNA. Translation: AAD10198.1.
    AF321876 mRNA. Translation: AAK13428.1.
    AC099684 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90567.1.
    CH471108 Genomic DNA. Translation: EAW90569.1.
    BC003099 mRNA. Translation: AAH03099.2.
    BC096088 mRNA. Translation: AAH96088.1.
    BT019878 mRNA. Translation: AAV38681.1.
    CCDSiCCDS42228.1. [Q9BZG8-1]
    RefSeqiNP_001374.3. NM_001383.3. [Q9BZG8-1]
    UniGeneiHs.513856.

    Genome annotation databases

    EnsembliENST00000263083; ENSP00000263083; ENSG00000108963. [Q9BZG8-1]
    ENST00000570477; ENSP00000458726; ENSG00000108963. [Q9BZG8-2]
    GeneIDi1801.
    KEGGihsa:1801.
    UCSCiuc002fts.3. human. [Q9BZG8-1]

    Polymorphism databases

    DMDMi269849559.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S81752 mRNA. Translation: AAB36297.1 .
    U34880 mRNA. Translation: AAD10198.1 .
    AF321876 mRNA. Translation: AAK13428.1 .
    AC099684 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90567.1 .
    CH471108 Genomic DNA. Translation: EAW90569.1 .
    BC003099 mRNA. Translation: AAH03099.2 .
    BC096088 mRNA. Translation: AAH96088.1 .
    BT019878 mRNA. Translation: AAV38681.1 .
    CCDSi CCDS42228.1. [Q9BZG8-1 ]
    RefSeqi NP_001374.3. NM_001383.3. [Q9BZG8-1 ]
    UniGenei Hs.513856.

    3D structure databases

    ProteinModelPortali Q9BZG8.
    SMRi Q9BZG8. Positions 61-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108135. 8 interactions.
    STRINGi 9606.ENSP00000263083.

    PTM databases

    PhosphoSitei Q9BZG8.

    Polymorphism databases

    DMDMi 269849559.

    Proteomic databases

    MaxQBi Q9BZG8.
    PaxDbi Q9BZG8.
    PRIDEi Q9BZG8.

    Protocols and materials databases

    DNASUi 1801.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263083 ; ENSP00000263083 ; ENSG00000108963 . [Q9BZG8-1 ]
    ENST00000570477 ; ENSP00000458726 ; ENSG00000108963 . [Q9BZG8-2 ]
    GeneIDi 1801.
    KEGGi hsa:1801.
    UCSCi uc002fts.3. human. [Q9BZG8-1 ]

    Organism-specific databases

    CTDi 1801.
    GeneCardsi GC17P001933.
    H-InvDB HIX0013414.
    HGNCi HGNC:3003. DPH1.
    MIMi 603527. gene.
    neXtProti NX_Q9BZG8.
    PharmGKBi PA27461.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1736.
    HOGENOMi HOG000164743.
    HOVERGENi HBG107822.
    InParanoidi Q9BZG8.
    KOi K07561.
    OMAi DILTQFC.
    OrthoDBi EOG7VX8VX.
    PhylomeDBi Q9BZG8.
    TreeFami TF105746.

    Enzyme and pathway databases

    UniPathwayi UPA00559 .

    Miscellaneous databases

    GeneWikii DPH1.
    GenomeRNAii 1801.
    NextBioi 7335.
    PROi Q9BZG8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZG8.
    Bgeei Q9BZG8.
    CleanExi HS_DPH1.
    Genevestigatori Q9BZG8.

    Family and domain databases

    InterProi IPR002728. DPH1/DPH2.
    IPR016435. DPH1_eu/DPH2_arc.
    [Graphical view ]
    PANTHERi PTHR10762. PTHR10762. 1 hit.
    PTHR10762:SF1. PTHR10762:SF1. 1 hit.
    Pfami PF01866. Diphthamide_syn. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF004967. DPH1. 1 hit.
    TIGRFAMsi TIGR00322. diphth2_R. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3."
      Phillips N.J., Zeigler M.R., Deaven L.L.
      Cancer Lett. 102:85-90(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Identification of two candidate tumor suppressor genes on chromosome 17p13.3."
      Schultz D.C., Vanderveer L., Berman D.B., Hamilton T.C., Wong A.J., Godwin A.K.
      Cancer Res. 56:1997-2002(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ARG-226.
    3. "Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells."
      Bruening W., Prowse A.H., Schultz D.C., Holgado-Madruga M., Wong A., Godwin A.K.
      Cancer Res. 59:4973-4983(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS BREAST AND OVARIAN CANCER VAL-7; ASP-34; VAL-335 AND ARG-389, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-443 (ISOFORM 1).
      Tissue: Brain.
    7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 81-443 (ISOFORMS 1/2/3).
    8. "Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor."
      Salicioni A.M., Xi M., Vanderveer L.A., Balsara B., Testa J.R., Dunbrack R.L. Jr., Godwin A.K.
      Genomics 69:54-62(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RBM8A.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDPH1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZG8
    Secondary accession number(s): D3DTI3
    , Q16439, Q4VBA2, Q9BTW7, Q9UCY0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 84 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

    Caution

    It is uncertain whether Met-1 or Met-6 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3