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Protein

Diphthamide biosynthesis protein 1

Gene

DPH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 similarity1 Publication

Pathwayi: peptidyl-diphthamide biosynthesis

This protein is involved in the pathway peptidyl-diphthamide biosynthesis, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway peptidyl-diphthamide biosynthesis and in Protein modification.

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-5358493. Synthesis of diphthamide-EEF2.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:3003. DPH1.

Subcellular locationi

  • Nucleus 1 Publication
  • Cytoplasm 1 Publication

  • Note: Punctate, primarily perinuclear localization.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by intellectual disability, short stature, and craniofacial and ectodermal anomalies including scaphocephaly with or without craniosynostosis, prominent forehead, sparse eyebrows and hair, hypoplastic toenails and, in some cases, dental anomalies.
See also OMIM:616901
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61M → K in DEDSSH. 1 Publication
VAR_076412
Natural varianti234 – 2341L → P in DEDSSH. 1 Publication
VAR_076413

Keywords - Diseasei

Disease mutation, Dwarfism, Ectodermal dysplasia, Hypotrichosis, Mental retardation, Tumor suppressor

Organism-specific databases

MIMi616901. phenotype.
PharmGKBiPA27461.

Polymorphism and mutation databases

BioMutaiDPH1.
DMDMi269849559.

PTM / Processingi

Molecule processing

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

Proteomic databases

EPDiQ9BZG8.
MaxQBiQ9BZG8.
PaxDbiQ9BZG8.
PeptideAtlasiQ9BZG8.
PRIDEiQ9BZG8.

PTM databases

iPTMnetiQ9BZG8.
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

BgeeiENSG00000108963.
CleanExiHS_DPH1.
ExpressionAtlasiQ9BZG8. baseline and differential.
GenevisibleiQ9BZG8. HS.

Organism-specific databases

HPAiHPA063976.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
TFCP2Q128003EBI-10303200,EBI-717422

Protein-protein interaction databases

BioGridi108135. 33 interactions.
IntActiQ9BZG8. 1 interaction.
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

eggNOGiKOG2648. Eukaryota.
COG1736. LUCA.
GeneTreeiENSGT00550000075112.
HOGENOMiHOG000164743.
HOVERGENiHBG107822.
InParanoidiQ9BZG8.
KOiK07561.
OMAiTIWRIRE.
OrthoDBiEOG091G08DQ.
PhylomeDBiQ9BZG8.
TreeFamiTF105746.

Family and domain databases

InterProiIPR016435. DPH1/DPH2.
[Graphical view]
PANTHERiPTHR10762. PTHR10762. 1 hit.
PfamiPF01866. Diphthamide_syn. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00322. diphth2_R. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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 varianti6 – 61M → K in DEDSSH. 1 Publication
VAR_076412
Natural varianti7 – 71A → V in breast and ovarian cancer. 1 Publication
Corresponds to variant rs778705666 [ dbSNP | Ensembl ].
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 varianti234 – 2341L → P in DEDSSH. 1 Publication
VAR_076413
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:
EMBLi
GenBanki
DDBJi
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.4. human. [Q9BZG8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi108135. 33 interactions.
IntActiQ9BZG8. 1 interaction.
STRINGi9606.ENSP00000263083.

PTM databases

iPTMnetiQ9BZG8.
PhosphoSiteiQ9BZG8.

Polymorphism and mutation databases

BioMutaiDPH1.
DMDMi269849559.

Proteomic databases

EPDiQ9BZG8.
MaxQBiQ9BZG8.
PaxDbiQ9BZG8.
PeptideAtlasiQ9BZG8.
PRIDEiQ9BZG8.

Protocols and materials databases

DNASUi1801.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263083; ENSP00000263083; ENSG00000108963. [Q9BZG8-1]
ENST00000570477; ENSP00000458726; ENSG00000108963. [Q9BZG8-2]
GeneIDi1801.
KEGGihsa:1801.
UCSCiuc002fts.4. human. [Q9BZG8-1]

Organism-specific databases

CTDi1801.
GeneCardsiDPH1.
H-InvDBHIX0013414.
HGNCiHGNC:3003. DPH1.
HPAiHPA063976.
MIMi603527. gene.
616901. phenotype.
neXtProtiNX_Q9BZG8.
PharmGKBiPA27461.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2648. Eukaryota.
COG1736. LUCA.
GeneTreeiENSGT00550000075112.
HOGENOMiHOG000164743.
HOVERGENiHBG107822.
InParanoidiQ9BZG8.
KOiK07561.
OMAiTIWRIRE.
OrthoDBiEOG091G08DQ.
PhylomeDBiQ9BZG8.
TreeFamiTF105746.

Enzyme and pathway databases

UniPathwayiUPA00559.
ReactomeiR-HSA-5358493. Synthesis of diphthamide-EEF2.

Miscellaneous databases

GeneWikiiDPH1.
GenomeRNAii1801.
PROiQ9BZG8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108963.
CleanExiHS_DPH1.
ExpressionAtlasiQ9BZG8. baseline and differential.
GenevisibleiQ9BZG8. HS.

Family and domain databases

InterProiIPR016435. DPH1/DPH2.
[Graphical view]
PANTHERiPTHR10762. PTHR10762. 1 hit.
PfamiPF01866. Diphthamide_syn. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00322. diphth2_R. 1 hit.
ProtoNetiSearch...

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: September 7, 2016
This is version 103 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.