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Q9BZG8

- DPH1_HUMAN

UniProt

Q9BZG8 - DPH1_HUMAN

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Protein

Diphthamide biosynthesis protein 1

Gene

DPH1

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

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
Complete GO annotation...

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-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ9BZG8.
CleanExiHS_DPH1.
ExpressionAtlasiQ9BZG8. baseline.
GenevestigatoriQ9BZG8.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi108135. 17 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.
GeneTreeiENSGT00550000075112.
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

        10         20         30         40         50
MRRQVMAALV VSGAAEQGGR DGPGRGRAPR GRVANQIPPE ILKNPQLQAA
60 70 80 90 100
IRVLPSNYNF EIPKTIWRIQ QAQAKKVALQ MPEGLLLFAC TIVDILERFT
110 120 130 140 150
EAEVMVMGDV TYGACCVDDF TARALGADFL VHYGHSCLIP MDTSAQDFRV
160 170 180 190 200
LYVFVDIRID TTHLLDSLRL TFPPATALAL VSTIQFVSTL QAAAQELKAE
210 220 230 240 250
YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH LESVMIANPN
260 270 280 290 300
VPAYRYDPYS KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ
310 320 330 340 350
GSPKILEHLE SRLRALGLSF VRLLLSEIFP SKLSLLPEVD VWVQVACPRL
360 370 380 390 400
SIDWGTAFPK PLLTPYEAAV ALRDISWQQP YPMDFYAGSS LGPWTVNHGQ
410 420 430 440
DRRPHAPGRP ARGKVQEGSA RPPSAVACED CSCRDEKVAP LAP
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. 17 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.
GeneTreei ENSGT00550000075112.
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

Bgeei Q9BZG8.
CleanExi HS_DPH1.
ExpressionAtlasi Q9BZG8. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 85 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