Q9BZG8 (DPH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	DPH1
Synonyms:	DPH2L, DPH2L1, OVCA1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	443 AA.
Sequence status	Complete.
Protein existence	Evidence 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. 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
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 component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Tumor suppressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Inferred from electronic annotation. Source: Compara peptidyl-diphthamide biosynthetic process from peptidyl-histidine Inferred from electronic annotation. Source: InterPro translation Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cytoplasm 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 443	443	Diphthamide biosynthesis protein 1		PRO_0000307882
Natural variations
	Alternative sequence	1 – 140	140	Missing in isoform 3.		VSP_028851
	Alternative sequence	1 – 80	80	Missing in isoform 2.		VSP_028852
	Natural variant	7	1	A → V in breast and ovarian cancer. Ref.3		VAR_036702
	Natural variant	34	1	A → D in breast and ovarian cancer. Ref.3		VAR_036703
	Natural variant	51	1	I → M. Corresponds to variant rs8070453 [ dbSNP | Ensembl ].		VAR_059255
	Natural variant	226	1	K → R. Ref.2 Corresponds to variant rs1131600 [ dbSNP | Ensembl ].		VAR_055706
	Natural variant	335	1	L → V in breast and ovarian cancer; requires 2 nucleotide substitutions. Ref.3 Corresponds to variant rs35394823 [ dbSNP | Ensembl ].		VAR_036704
	Natural variant	389	1	S → R in breast and ovarian cancer. Ref.3		VAR_036705
Experimental info
	Sequence conflict	8	1	A → V in AAK13428. Ref.3
	Sequence conflict	162	1	T → I in AAH96088. Ref.6
	Sequence conflict	358	1	F → S in AAD10198. Ref.1
	Sequence conflict	358	1	F → S in AAB36297. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 24, 2009. Version 2. Checksum: 6AF0FD0D8EE35E2D	FASTA	443	48,805
	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
	Isoform 2 [UniParc]. Checksum: 4BBD3117060A0841	FASTA	363	40,040
	10 20 30 40 50 60 MPEGLLLFAC TIVDILERFT EAEVMVMGDV TYGACCVDDF TARALGADFL VHYGHSCLIP 70 80 90 100 110 120 MDTSAQDFRV LYVFVDIRID TTHLLDSLRL TFPPATALAL VSTIQFVSTL QAAAQELKAE 130 140 150 160 170 180 YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH LESVMIANPN VPAYRYDPYS 190 200 210 220 230 240 KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ GSPKILEHLE SRLRALGLSF 250 260 270 280 290 300 VRLLLSEIFP SKLSLLPEVD VWVQVACPRL SIDWGTAFPK PLLTPYEAAV ALRDISWQQP 310 320 330 340 350 360 YPMDFYAGSS LGPWTVNHGQ DRRPHAPGRP ARGKVQEGSA RPPSAVACED CSCRDEKVAP LAP
	Isoform 3 [UniParc]. Checksum: 9896AAF8EC70CE26	FASTA	303	33,516
	10 20 30 40 50 60 MDTSAQDFRV LYVFVDIRID TTHLLDSLRL TFPPATALAL VSTIQFVSTL QAAAQELKAE 70 80 90 100 110 120 YRVSVPQCKP LSPGEILGCT SPRLSKEVEA VVYLGDGRFH LESVMIANPN VPAYRYDPYS 130 140 150 160 170 180 KVLSREHYDH QRMQAARQEA IATARSAKSW GLILGTLGRQ GSPKILEHLE SRLRALGLSF 190 200 210 220 230 240 VRLLLSEIFP SKLSLLPEVD VWVQVACPRL SIDWGTAFPK PLLTPYEAAV ALRDISWQQP 250 260 270 280 290 300 YPMDFYAGSS LGPWTVNHGQ DRRPHAPGRP ARGKVQEGSA RPPSAVACED CSCRDEKVAP LAP

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
+	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.
IPI	IPI00718991. IPI00868806. IPI00868847.
RefSeq	NP_001374.3. NM_001383.3.
UniGene	Hs.513856.
3D structure databases
ProteinModelPortal	Q9BZG8.
SMR	Q9BZG8. Positions 61-372.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000263083.
PTM databases
PhosphoSite	Q9BZG8.
Polymorphism databases
DMDM	269849559.
Proteomic databases
PaxDb	Q9BZG8.
PRIDE	Q9BZG8.
Protocols and materials databases
DNASU	1801.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263083; ENSP00000263083; ENSG00000108963. ENST00000570477; ENSP00000458726; ENSG00000108963.
GeneID	1801.
KEGG	hsa:1801.
UCSC	uc002fts.3. human.
Organism-specific databases
CTD	1801.
GeneCards	GC17P001933.
H-InvDB	HIX0013414.
HGNC	HGNC:3003. DPH1.
MIM	603527. gene.
neXtProt	NX_Q9BZG8.
PharmGKB	PA27461.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1736.
HOGENOM	HOG000164743.
HOVERGEN	HBG107822.
InParanoid	Q9BZG8.
OMA	SEIFPQK.
OrthoDB	EOG4Q2DFN.
PhylomeDB	Q9BZG8.
Gene expression databases
ArrayExpress	Q9BZG8.
Bgee	Q9BZG8.
CleanEx	HS_DPH1.
Genevestigator	Q9BZG8.
Family and domain databases
InterPro	IPR002728. DPH1/DPH2. IPR016435. eu_DPH1/arc_DPH2. [Graphical view]
PANTHER	PTHR10762. PTHR10762. 1 hit. PTHR10762:SF1. PTHR10762:SF1. 1 hit.
Pfam	PF01866. Diphthamide_syn. 1 hit. [Graphical view]
PIRSF	PIRSF004967. DPH1. 1 hit.
TIGRFAMs	TIGR00322. diphth2_R. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	1801.
NextBio	7335.
SOURCE	Search...

Entry information

Entry name

DPH1_HUMAN

Accession

Primary (citable) accession number: Q9BZG8
Secondary accession number(s): D3DTI3 , Q16439, Q4VBA2, Q9BTW7, Q9UCY0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
Last sequence update:	November 24, 2009
Last modified:	May 1, 2013
This is version 72 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.