Human Gene DPH6 (ENST00000256538.9) from GENCODE V44
  Description: Homo sapiens diphthamine biosynthesis 6 (DPH6), transcript variant 1, mRNA. (from RefSeq NM_080650)
Gencode Transcript: ENST00000256538.9
Gencode Gene: ENSG00000134146.12
Transcript (Including UTRs)
   Position: hg38 chr15:35,370,880-35,546,165 Size: 175,286 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr15:35,372,150-35,546,141 Size: 173,992 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:35,370,880-35,546,165)mRNA (may differ from genome)Protein (267 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HPRDLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATBD4_HUMAN
DESCRIPTION: RecName: Full=ATP-binding domain-containing protein 4;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DPH6
Diseases sorted by gene-association score: spastic paraplegia 11, autosomal recessive (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.50 RPKM in Ovary
Total median expression: 41.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.9024-0.204 Picture PostScript Text
3' UTR -238.401270-0.188 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002761 - DUF71_ATP-bd_dom
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF01902 - Diphthamide synthase

ModBase Predicted Comparative 3D Structure on Q7L8W6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0017178 diphthine-ammonia ligase activity

Biological Process:
GO:0017183 peptidyl-diphthamide biosynthetic process from peptidyl-histidine

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BX537862 - Homo sapiens mRNA; cDNA DKFZp779M0552 (from clone DKFZp779M0552).
AK094007 - Homo sapiens cDNA FLJ36688 fis, clone UTERU2008302.
AX748407 - Sequence 1932 from Patent EP1308459.
BC008485 - Homo sapiens ATP binding domain 4, mRNA (cDNA clone IMAGE:4064321), partial cds.
BC066652 - Homo sapiens ATP binding domain 4, mRNA (cDNA clone MGC:74761 IMAGE:6066017), complete cds.
KJ895108 - Synthetic construct Homo sapiens clone ccsbBroadEn_04502 ATPBD4 gene, encodes complete protein.
CU688170 - Synthetic construct Homo sapiens gateway clone IMAGE:100021609 5' read ATPBD4 mRNA.
AL833427 - Homo sapiens mRNA; cDNA DKFZp313L0839 (from clone DKFZp313L0839).
AK125017 - Homo sapiens cDNA FLJ43027 fis, clone BRTHA2019048.
JD284420 - Sequence 265444 from Patent EP1572962.
JD553486 - Sequence 534510 from Patent EP1572962.
JD286281 - Sequence 267305 from Patent EP1572962.
JD233832 - Sequence 214856 from Patent EP1572962.
JD237814 - Sequence 218838 from Patent EP1572962.
JD369757 - Sequence 350781 from Patent EP1572962.
JD552615 - Sequence 533639 from Patent EP1572962.
JD556773 - Sequence 537797 from Patent EP1572962.
JD300074 - Sequence 281098 from Patent EP1572962.
JD557033 - Sequence 538057 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6482 - diphthamide biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q7L8W6 (Reactome details) participates in the following event(s):

R-HSA-5358475 DPH6 ligates ammonium to diphthine-EEF2
R-HSA-5358493 Synthesis of diphthamide-EEF2
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ATBD4_HUMAN, ATPBD4, B3KWG1, ENST00000256538.1, ENST00000256538.2, ENST00000256538.3, ENST00000256538.4, ENST00000256538.5, ENST00000256538.6, ENST00000256538.7, ENST00000256538.8, NM_080650, Q7L8W6, Q96HJ6, uc001zja.1, uc001zja.2, uc001zja.3, uc001zja.4, uc001zja.5
UCSC ID: ENST00000256538.9
RefSeq Accession: NM_080650
Protein: Q7L8W6 (aka ATBD4_HUMAN)
CCDS: CCDS10043.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.