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Protein

Diphthine methyltransferase

Gene

DPH7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta).By similarity2 Publications

Catalytic activityi

Diphthine methyl ester-[translation elongation factor 2] + H2O = diphthine-[translation elongation factor 2] + methanol.By similarity

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 - Molecular functioni

GO - Biological processi

  • peptidyl-diphthamide biosynthetic process from peptidyl-histidine Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148399-MONOMER.
ReactomeiR-HSA-5358493. Synthesis of diphthamide-EEF2.
SignaLinkiQ9BTV6.
UniPathwayiUPA00559.

Names & Taxonomyi

Protein namesi
Recommended name:
Diphthine methyltransferase (EC:3.1.1.97)
Alternative name(s):
Diphthamide biosynthesis protein 7
WD repeat-containing protein 85
Gene namesi
Name:DPH7
Synonyms:C9orf112, WDR85
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:25199. DPH7.

Pathology & Biotechi

Organism-specific databases

DisGeNETi92715.
OpenTargetsiENSG00000148399.
PharmGKBiPA134942088.

Polymorphism and mutation databases

BioMutaiDPH7.
DMDMi68565266.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000509061 – 452Diphthine methyltransferaseAdd BLAST452

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei353PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BTV6.
MaxQBiQ9BTV6.
PaxDbiQ9BTV6.
PeptideAtlasiQ9BTV6.
PRIDEiQ9BTV6.

PTM databases

iPTMnetiQ9BTV6.
PhosphoSitePlusiQ9BTV6.

Expressioni

Gene expression databases

BgeeiENSG00000148399.
CleanExiHS_WDR85.
GenevisibleiQ9BTV6. HS.

Organism-specific databases

HPAiHPA022911.

Interactioni

Protein-protein interaction databases

BioGridi124971. 14 interactors.
IntActiQ9BTV6. 6 interactors.
STRINGi9606.ENSP00000277540.

Structurei

3D structure databases

ProteinModelPortaliQ9BTV6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati79 – 130WD 1Add BLAST52
Repeati131 – 185WD 2Add BLAST55
Repeati186 – 229WD 3Add BLAST44
Repeati230 – 273WD 4Add BLAST44
Repeati274 – 313WD 5Add BLAST40
Repeati314 – 403WD 6Add BLAST90
Repeati404 – 448WD 7Add BLAST45

Sequence similaritiesi

Belongs to the DPH7 family.Curated
Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0280. Eukaryota.
ENOG4111MMJ. LUCA.
GeneTreeiENSGT00390000018644.
HOGENOMiHOG000240907.
HOVERGENiHBG080322.
InParanoidiQ9BTV6.
KOiK17868.
OMAiILDMKWL.
OrthoDBiEOG091G060U.
PhylomeDBiQ9BTV6.
TreeFamiTF324407.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BTV6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMGCFALQTV DTELTADSVE WCPLQGCRHL LACGTYQLRR PEDRPAGPQN
60 70 80 90 100
KGGMEVKEPQ VRLGRLFLYS FNDNNSIHPL VEVQRKDTSA ILDMKWCHIP
110 120 130 140 150
VAGHALLGLA DASGSIQLLR LVESEKSHVL EPLSSLALEE QCLALSLDWS
160 170 180 190 200
TGKTGRAGDQ PLKIISSDST GQLHLLMVNE TRPRLQKVAS WQAHQFEAWI
210 220 230 240 250
AAFNYWHPEI VYSGGDDGLL RGWDTRVPGK FLFTSKRHTM GVCSIQSSPH
260 270 280 290 300
REHILATGSY DEHILLWDTR NMKQPLADTP VQGGVWRIKW HPFHHHLLLA
310 320 330 340 350
ACMHSGFKIL NCQKAMEERQ EATVLTSHTL PDSLVYGADW SWLLFRSLQR
360 370 380 390 400
APSWSFPSNL GTKTADLKGA SELPTPCHEC REDNDGEGHA RPQSGMKPLT
410 420 430 440 450
EGMRKNGTWL QATAATTRDC GVNPEEADSA FSLLATCSFY DHALHLWEWE

GN
Length:452
Mass (Da):50,575
Last modified:March 1, 2004 - v2
Checksum:iB79D25EE38096733
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053437158G → R.Corresponds to variant rs821314dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075115 mRNA. Translation: BAC11411.1.
AL365502 Genomic DNA. Translation: CAI14584.1.
BC003123 mRNA. Translation: AAH03123.2.
BC017335 mRNA. Translation: AAH17335.1.
CCDSiCCDS7047.1.
RefSeqiNP_620133.1. NM_138778.4.
UniGeneiHs.292570.

Genome annotation databases

EnsembliENST00000277540; ENSP00000277540; ENSG00000148399.
GeneIDi92715.
KEGGihsa:92715.
UCSCiuc004cnk.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075115 mRNA. Translation: BAC11411.1.
AL365502 Genomic DNA. Translation: CAI14584.1.
BC003123 mRNA. Translation: AAH03123.2.
BC017335 mRNA. Translation: AAH17335.1.
CCDSiCCDS7047.1.
RefSeqiNP_620133.1. NM_138778.4.
UniGeneiHs.292570.

3D structure databases

ProteinModelPortaliQ9BTV6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124971. 14 interactors.
IntActiQ9BTV6. 6 interactors.
STRINGi9606.ENSP00000277540.

PTM databases

iPTMnetiQ9BTV6.
PhosphoSitePlusiQ9BTV6.

Polymorphism and mutation databases

BioMutaiDPH7.
DMDMi68565266.

Proteomic databases

EPDiQ9BTV6.
MaxQBiQ9BTV6.
PaxDbiQ9BTV6.
PeptideAtlasiQ9BTV6.
PRIDEiQ9BTV6.

Protocols and materials databases

DNASUi92715.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000277540; ENSP00000277540; ENSG00000148399.
GeneIDi92715.
KEGGihsa:92715.
UCSCiuc004cnk.1. human.

Organism-specific databases

CTDi92715.
DisGeNETi92715.
GeneCardsiDPH7.
HGNCiHGNC:25199. DPH7.
HPAiHPA022911.
MIMi613210. gene.
neXtProtiNX_Q9BTV6.
OpenTargetsiENSG00000148399.
PharmGKBiPA134942088.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0280. Eukaryota.
ENOG4111MMJ. LUCA.
GeneTreeiENSGT00390000018644.
HOGENOMiHOG000240907.
HOVERGENiHBG080322.
InParanoidiQ9BTV6.
KOiK17868.
OMAiILDMKWL.
OrthoDBiEOG091G060U.
PhylomeDBiQ9BTV6.
TreeFamiTF324407.

Enzyme and pathway databases

UniPathwayiUPA00559.
BioCyciZFISH:ENSG00000148399-MONOMER.
ReactomeiR-HSA-5358493. Synthesis of diphthamide-EEF2.
SignaLinkiQ9BTV6.

Miscellaneous databases

GenomeRNAii92715.
PROiQ9BTV6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148399.
CleanExiHS_WDR85.
GenevisibleiQ9BTV6. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDPH7_HUMAN
AccessioniPrimary (citable) accession number: Q9BTV6
Secondary accession number(s): Q96AB7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: March 1, 2004
Last modified: November 30, 2016
This is version 124 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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.