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Q9BZG8 (DPH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DPH1
Synonyms:DPH2L, DPH2L1, OVCA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length443 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3

Pathway

Protein modification; peptidyl-diphthamide biosynthesis.

Subunit structure

Interacts with DPH2 By similarity. Interacts with RBM8A. Ref.8

Subcellular location

Nucleus. Cytoplasm. Note: Punctate, primarily perinuclear localization. Ref.3

Tissue specificity

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. Ref.2 Ref.3

Sequence similarities

Belongs to the DPH1/DPH2 family. DPH1 subfamily.

Caution

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

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseTumor suppressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell proliferation

Inferred from electronic annotation. Source: Ensembl

peptidyl-diphthamide biosynthetic process from peptidyl-histidine

Inferred from electronic annotation. Source: UniProtKB-UniPathway

translation

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BZG8-1)

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.
Isoform 2 (identifier: Q9BZG8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.
Isoform 3 (identifier: Q9BZG8-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 443443Diphthamide biosynthesis protein 1
PRO_0000307882

Natural variations

Alternative sequence1 – 140140Missing in isoform 3.
VSP_028851
Alternative sequence1 – 8080Missing in isoform 2.
VSP_028852
Natural variant71A → V in breast and ovarian cancer. Ref.3
VAR_036702
Natural variant341A → D in breast and ovarian cancer. Ref.3
VAR_036703
Natural variant511I → M.
Corresponds to variant rs8070453 [ dbSNP | Ensembl ].
VAR_059255
Natural variant2261K → R. Ref.2
Corresponds to variant rs1131600 [ dbSNP | Ensembl ].
VAR_055706
Natural variant3351L → V in breast and ovarian cancer; requires 2 nucleotide substitutions. Ref.3
Corresponds to variant rs35394823 [ dbSNP | Ensembl ].
VAR_036704
Natural variant3891S → R in breast and ovarian cancer. Ref.3
VAR_036705

Experimental info

Sequence conflict81A → V in AAK13428. Ref.3
Sequence conflict1621T → I in AAH96088. Ref.6
Sequence conflict3581F → S in AAD10198. Ref.1
Sequence conflict3581F → S in AAB36297. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 2.
Checksum: 6AF0FD0D8EE35E2D

FASTA44348,805
        10         20         30         40         50         60 
MRRQVMAALV VSGAAEQGGR DGPGRGRAPR GRVANQIPPE ILKNPQLQAA IRVLPSNYNF 

        70         80         90        100        110        120 
EIPKTIWRIQ QAQAKKVALQ MPEGLLLFAC TIVDILERFT EAEVMVMGDV TYGACCVDDF 

       130        140        150        160        170        180 
TARALGADFL VHYGHSCLIP MDTSAQDFRV LYVFVDIRID TTHLLDSLRL TFPPATALAL 

       190        200        210        220        230        240 
VSTIQFVSTL QAAAQELKAE YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH 

       250        260        270        280        290        300 
LESVMIANPN VPAYRYDPYS KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ 

       310        320        330        340        350        360 
GSPKILEHLE SRLRALGLSF VRLLLSEIFP SKLSLLPEVD VWVQVACPRL SIDWGTAFPK 

       370        380        390        400        410        420 
PLLTPYEAAV ALRDISWQQP YPMDFYAGSS LGPWTVNHGQ DRRPHAPGRP ARGKVQEGSA 

       430        440 
RPPSAVACED CSCRDEKVAP LAP 

« Hide

Isoform 2 [UniParc].

Checksum: 4BBD3117060A0841
Show »

FASTA36340,040
Isoform 3 [UniParc].

Checksum: 9896AAF8EC70CE26
Show »

FASTA30333,516

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001374.3. NM_001383.3.
UniGeneHs.513856.

3D structure databases

ProteinModelPortalQ9BZG8.
SMRQ9BZG8. Positions 58-399.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108135. 8 interactions.
STRING9606.ENSP00000263083.

PTM databases

PhosphoSiteQ9BZG8.

Polymorphism databases

DMDM269849559.

Proteomic databases

PaxDbQ9BZG8.
PRIDEQ9BZG8.

Protocols and materials databases

DNASU1801.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263083; ENSP00000263083; ENSG00000108963. [Q9BZG8-1]
ENST00000570477; ENSP00000458726; ENSG00000108963. [Q9BZG8-2]
GeneID1801.
KEGGhsa:1801.
UCSCuc002fts.3. human. [Q9BZG8-1]

Organism-specific databases

CTD1801.
GeneCardsGC17P001933.
H-InvDBHIX0013414.
HGNCHGNC:3003. DPH1.
MIM603527. gene.
neXtProtNX_Q9BZG8.
PharmGKBPA27461.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1736.
HOGENOMHOG000164743.
HOVERGENHBG107822.
InParanoidQ9BZG8.
KOK07561.
OMADILTQFC.
OrthoDBEOG7VX8VX.
PhylomeDBQ9BZG8.
TreeFamTF105746.

Enzyme and pathway databases

UniPathwayUPA00559.

Gene expression databases

ArrayExpressQ9BZG8.
BgeeQ9BZG8.
CleanExHS_DPH1.
GenevestigatorQ9BZG8.

Family and domain databases

InterProIPR002728. DPH1/DPH2.
IPR016435. DPH1_eu/DPH2_arc.
[Graphical view]
PANTHERPTHR10762. PTHR10762. 1 hit.
PTHR10762:SF1. PTHR10762:SF1. 1 hit.
PfamPF01866. Diphthamide_syn. 1 hit.
[Graphical view]
PIRSFPIRSF004967. DPH1. 1 hit.
TIGRFAMsTIGR00322. diphth2_R. 1 hit.
ProtoNetSearch...

Other

GeneWikiDPH1.
GenomeRNAi1801.
NextBio7335.
PROQ9BZG8.
SOURCESearch...

Entry information

Entry nameDPH1_HUMAN
AccessionPrimary (citable) accession number: Q9BZG8
Secondary accession number(s): D3DTI3 expand/collapse secondary AC list , Q16439, Q4VBA2, Q9BTW7, Q9UCY0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 24, 2009
Last modified: March 19, 2014
This is version 80 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM