ATPBD4 Gene
protein-coding GIFtS: 46
GCID: GC15M035509
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ATP binding domain 4
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Aliases
for ATPBD4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATP Binding Domain 41 2 | | ATP-Binding Domain-Containing Protein 42 3 | | MGC147981 | | EC 6.3.1.143 | | Diphthamide Synthase3 | | Diphthamide Synthetase3 |
Export aliases for ATPBD4 gene to outside databasesPrevious GC identifers: GC15M033451 GC15M035663 GC15M012508 |
Summaries
for ATPBD4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: DPH6_HUMAN, Q7L8W6Function: Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamidebiosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor eEF-2 (EEF2) todiphthamide (Probable)
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Genomic Views
for ATPBD4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATPBD4 gene promoter:
RORalpha1 POU2F1 FOXO3a Cart-1 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATPBD4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATPBD4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q14 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q14ATPBD4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M035509: view genomic region
(about GC identifiers)
Start:
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35,509,546 bp from pter |
End:
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35,838,404 bp from pter |
Size:
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328,859 bases |
Orientation:
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minus strand |
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Proteins
for ATPBD4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DPH6_HUMAN, Q7L8W6 (See
protein sequence)Recommended Name: Diphthine--ammonia ligase Size: 267 amino acids; 30307 Da
Miscellaneous: When transfected in S.cerevisiae, able to restore diphthamide biosynthesis in a strain lacking DPH6(PubMed:23169644)
Secondary accessions: B3KWG1 Q96HJ6Alternative splicing: 2 isoforms: Q7L8W6-1 Q7L8W6-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATPBD4: NX_Q7L8W6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7L8W6
ATPBD4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001135444.1 NP_542381.1
ENSEMBL proteins: ENSP00000256538 ENSP00000454015 ENSP00000453967 ENSP00000406976
Human Recombinant Protein Products:
ATPBD4 Antibody Products:
Assay Products for ATPBD4: |
Protein
Domains /
Families
for ATPBD4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATPBD4 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7L8W6ProtoNet protein and cluster: Q7L8W6 UniProtKB/Swiss-Prot: DPH6_HUMAN, Q7L8W6Similarity: Belongs to the Diphthine--ammonia ligase family |
Function
for ATPBD4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DPH6_HUMAN, Q7L8W6Function: Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamidebiosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor eEF-2 (EEF2) todiphthamide (Probable)Catalytic activity: ATP + diphthine + NH(3) = ADP + phosphate + diphthamideEnzyme Number (IUBMB): EC 6.3.1.141
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATPBD4 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATPBD4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ATPBD4 (NM_080650) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATPBD4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATPBD4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPBD4 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005524 | ATP binding |
IEA | -- | | GO:0017178 | diphthine-ammonia ligase activity |
TAS | -- |
ATPBD4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ATPBD4:
|
Pathways & Interactions
for ATPBD4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: DPH6_HUMAN, Q7L8W6Pathway: Protein modification; peptidyl-diphthamide biosynthesisInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATPBD4
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
2 Interacting proteins for ATPBD4 (Q7L8W63 ENSP000002565384) via UniProtKB, MINT, STRING, and/or I2D About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0017183 | peptidyl-diphthamide biosynthetic process from peptidyl-histidine |
TAS | -- |
ATPBD4 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATPBD4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATPBD4
Search CenterWatch for drugs/clinical trials and news about ATPBD4 / DPH6
|
Transcripts
for ATPBD4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATPBD4 gene (2 alternative transcripts): NM_001141972.1 NM_080650.3 Unigene Cluster for ATPBD4: ATP binding domain 4 Hs.107196 [show with all ESTs]Unigene Representative Sequence: BX5378629 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000560386 ENST00000558973 ENST00000256538(uc001zja.3) ENST00000558266
ENST00000561411 ENST00000559784 ENST00000559585 ENST00000440392(uc001zjb.2)
ENST00000560526
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATPBD4 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATPBD4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ATPBD4 (NM_080650) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATPBD4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATPBD4 |
Additional cDNA sequence: AK094007.1 AK125017.1 AL833427.1 BC008485.2 BC066652.1 BX537862.1 4 DOTS entries: DT.70104417 DT.101970491 DT.101970529 DT.92024217 24/53 AceView cDNA sequences (see all 53): BM711937 BX445122 CR622071 AA854963 AX748407 AA767663 AK094007 BC008485 BU621608 BM126048 CK818929 CK818928 BQ432170 NM_080650 AW245988 BC066652 BF060803 BG707163 BP379131 BM824042 BF061612 BP338148 BI546687 BX105508
GeneLoc Exon Structure
|
Expression
for ATPBD4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATPBD4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTGGCGAT
About this image
See ATPBD4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATPBD4
SOURCE GeneReport for Unigene cluster: Hs.107196
SABiosciences Custom PCR Arrays for ATPBD4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATPBD4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATPBD4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATPBD4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATPBD4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPBD4 |
Orthologs
for ATPBD4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ATPBD4 gene from 10/33 species (see all 33) About this table
ENSEMBL Gene Tree for ATPBD4 (if available)
TreeFam Gene Tree for ATPBD4 (if available) |
Paralogs
for ATPBD4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ATPBD4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATPBD4 (35509546 - 35759546 bp, first 250kb of ATPBD4)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATPBD4
1 CNV: 35313 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATPBD4 |
|
Disorders
/ Diseases
for ATPBD4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATPBD4 for disorders About GeneDecksing
1  disease for ATPBD4: About MalaCardsmalaria
Human Genome Epidemiology (HuGE) Navigator: ATPBD4 (4 documents)
Export disorders for ATPBD4 gene to outside databases
|
Publications
for ATPBD4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATPBD4 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with ATPBD4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Chemogenomic approach identified yeast YLR143W as diphthamide synthetase. (PubMed id 23169644)1, 2 Su X.... Lin H. (2012)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Family-based genome-wide association scan of attentio n-deficit/hyperactivity disorder. (PubMed id 20732626)1 Mick E....Faraone S.V. (2010)
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External Searches for ATPBD4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATPBD4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATPBD4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATPBD4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ATPBD4 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for ATPBD4 gene:
Search GeneIP for patents involving ATPBD4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATPBD4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ATPBD4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATPBD4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATPBD4 | | | OriGene Protein Over-expression Lysate for ATPBD4 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ATPBD4 | | OriGene 3'-UTR Clone for ATPBD4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATPBD4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATPBD4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ATPBD4 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ATPBD4 | | OriGene Custom Protein Services for ATPBD4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATPBD4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATPBD4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATPBD4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATPBD4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATPBD4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATPBD4 |
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| | | | Search Tocris compounds for ATPBD4 |
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 | | | ATPBD4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPBD4 |
|  |  |  | | | | ThermoFisher Antibodies for ATPBD4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATPBD4 |
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