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Protein

Diphthine--ammonia ligase

Gene

DPH6

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

Functioni

Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity).By similarity1 Publication

Miscellaneous

When transfected in S.cerevisiae, able to restore diphthamide biosynthesis in a strain lacking DPH6.1 Publication

Catalytic activityi

ATP + diphthine-[translation elongation factor 2] + NH3 = AMP + diphosphate + diphthamide-[translation elongation factor 2].

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

Keywordsi

Molecular functionLigase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5358493 Synthesis of diphthamide-EEF2
UniPathwayiUPA00559

Names & Taxonomyi

Protein namesi
Recommended name:
Diphthine--ammonia ligase (EC:6.3.1.14)
Alternative name(s):
ATP-binding domain-containing protein 4
Diphthamide synthase
Diphthamide synthetase
Protein DPH6 homolog
Gene namesi
Name:DPH6
Synonyms:ATPBD4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000134146.11
HGNCiHGNC:30543 DPH6
neXtProtiNX_Q7L8W6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi89978
OpenTargetsiENSG00000134146
PharmGKBiPA142672572

Polymorphism and mutation databases

BioMutaiDPH6
DMDMi317373478

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002823971 – 267Diphthine--ammonia ligaseAdd BLAST267

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei97PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7L8W6
MaxQBiQ7L8W6
PaxDbiQ7L8W6
PeptideAtlasiQ7L8W6
PRIDEiQ7L8W6

PTM databases

iPTMnetiQ7L8W6
PhosphoSitePlusiQ7L8W6

Expressioni

Gene expression databases

BgeeiENSG00000134146
CleanExiHS_ATPBD4
ExpressionAtlasiQ7L8W6 baseline and differential
GenevisibleiQ7L8W6 HS

Organism-specific databases

HPAiHPA042976
HPA055496

Interactioni

Protein-protein interaction databases

BioGridi124651, 10 interactors
STRINGi9606.ENSP00000256538

Structurei

3D structure databases

ProteinModelPortaliQ7L8W6
SMRiQ7L8W6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Diphthine--ammonia ligase family.Curated

Phylogenomic databases

eggNOGiKOG2316 Eukaryota
COG2102 LUCA
GeneTreeiENSGT00420000029820
HOGENOMiHOG000229449
HOVERGENiHBG100452
InParanoidiQ7L8W6
KOiK06927
OMAiLDESWLG
OrthoDBiEOG091G02O5
PhylomeDBiQ7L8W6
TreeFamiTF313566

Family and domain databases

CDDicd01994 Alpha_ANH_like_IV, 1 hit
Gene3Di3.40.50.620, 1 hit
InterProiView protein in InterPro
IPR002761 Diphthami_syn_dom
IPR030662 DPH6/MJ0570
IPR014729 Rossmann-like_a/b/a_fold
PANTHERiPTHR12196 PTHR12196, 1 hit
PfamiView protein in Pfam
PF01902 Diphthami_syn_2, 1 hit
PIRSFiPIRSF039123 Diphthamide_synthase, 1 hit
TIGRFAMsiTIGR00290 MJ0570_dom, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7L8W6-1) [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
MRVAALISGG KDSCYNMMQC IAAGHQIVAL ANLRPAENQV GSDELDSYMY
60 70 80 90 100
QTVGHHAIDL YAEAMALPLY RRTIRGRSLD TRQVYTKCEG DEVEDLYELL
110 120 130 140 150
KLVKEKEEVE GISVGAILSD YQRIRVENVC KRLNLQPLAY LWQRNQEDLL
160 170 180 190 200
REMISSNIQA MIIKVAALGL DPDKHLGKTL DQMEPYLIEL SKKYGVHVCG
210 220 230 240 250
EGGEYETFTL DCPLFKKKII VDSSEVVIHS ADAFAPVAYL RFLELHLEDK
260
VSSVPDNYRT SNYIYNF
Length:267
Mass (Da):30,307
Last modified:January 11, 2011 - v3
Checksum:i16BB1094F4D3513D
GO
Isoform 2 (identifier: Q7L8W6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-267: EKEEVEGISV...YRTSNYIYNF → GITRMTLLAE...FISEIAKCEV

Note: No experimental confirmation available.
Show »
Length:165
Mass (Da):18,657
Checksum:i14398C0D0ABC39AE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03140341G → E. Corresponds to variant dbSNP:rs34907758Ensembl.1
Natural variantiVAR_031404236P → R. Corresponds to variant dbSNP:rs10519996Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042933105 – 267EKEEV…YIYNF → GITRMTLLAEYDALNLQDFH MHLKVGSQAIVYRTPNELCT HSKFDKHTFPPFISEIAKCE V in isoform 2. 1 PublicationAdd BLAST163

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK094007 mRNA Translation: BAC04266.1
AK125017 mRNA Translation: BAG54123.1
AC015994 Genomic DNA No translation available.
AC019288 Genomic DNA No translation available.
BC008485 mRNA Translation: AAH08485.2
BC066652 mRNA Translation: AAH66652.1
CCDSiCCDS10043.1 [Q7L8W6-1]
CCDS45213.1 [Q7L8W6-2]
RefSeqiNP_001135444.1, NM_001141972.1 [Q7L8W6-2]
NP_542381.1, NM_080650.3 [Q7L8W6-1]
UniGeneiHs.107196

Genome annotation databases

EnsembliENST00000256538; ENSP00000256538; ENSG00000134146 [Q7L8W6-1]
ENST00000440392; ENSP00000406976; ENSG00000134146 [Q7L8W6-2]
GeneIDi89978
KEGGihsa:89978
UCSCiuc001zja.4 human [Q7L8W6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDPH6_HUMAN
AccessioniPrimary (citable) accession number: Q7L8W6
Secondary accession number(s): B3KWG1, Q96HJ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: January 11, 2011
Last modified: May 23, 2018
This is version 110 of the entry and version 3 of the sequence. See 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 15
    Human chromosome 15: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families

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