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DPH6 diphthamine biosynthesis 6 [ Homo sapiens (human) ]

Gene ID: 89978, updated on 7-Jun-2020

Summary

Official Symbol
DPH6provided by HGNC
Official Full Name
diphthamine biosynthesis 6provided by HGNC
Primary source
HGNC:HGNC:30543
See related
Ensembl:ENSG00000134146 MIM:618391
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATPBD4
Expression
Ubiquitous expression in thyroid (RPKM 1.3), ovary (RPKM 0.9) and 25 other tissues See more
Orthologs

Genomic context

See DPH6 in Genome Data Viewer
Location:
15q14
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (35217356..35546193, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (35657670..35838597, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370765 Neighboring gene U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene Neighboring gene PRELID1 pseudogene 4 Neighboring gene acidic nuclear phosphoprotein 32 family member A pseudogene 1 Neighboring gene nuclear transport factor 2 pseudogene 6 Neighboring gene RNA binding motif protein 17 pseudogene 4 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 45 Neighboring gene microRNA 3942 Neighboring gene DPH6 divergent transcript Neighboring gene uncharacterized LOC105370766 Neighboring gene microRNA 4510

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14798

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
diphthine-ammonia ligase activity EXP
Inferred from Experiment
more info
PubMed 
diphthine-ammonia ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diphthine-ammonia ligase activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
diphthine--ammonia ligase
Names
ATP binding domain 4
ATP-binding domain-containing protein 4
DPH6 homolog
diphthamide synthase
diphthamide synthetase
protein DPH6 homolog
NP_001135444.1
NP_542381.1
XP_011520462.1
XP_016878196.1
XP_016878197.1
XP_016878198.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001141972.2NP_001135444.1  diphthine--ammonia ligase isoform 2

    See identical proteins and their annotated locations for NP_001135444.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC015994, AK125017
    Consensus CDS
    CCDS45213.1
    UniProtKB/Swiss-Prot
    Q7L8W6
    Related
    ENSP00000406976.2, ENST00000440392.3
    Conserved Domains (1) summary
    cl00292
    Location:2104
    AANH_like; Adenine nucleotide alpha hydrolases superfamily including N type ATP PPases, ATP sulphurylases Universal Stress Response protein and electron transfer flavoprotein (ETF). The domain forms a apha/beta/apha fold which binds to Adenosine nucleotide.
  2. NM_080650.4NP_542381.1  diphthine--ammonia ligase isoform 1

    See identical proteins and their annotated locations for NP_542381.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC019288, AK094007, BC008485, DB250468
    Consensus CDS
    CCDS10043.1
    UniProtKB/Swiss-Prot
    Q7L8W6
    Related
    ENSP00000256538.4, ENST00000256538.9
    Conserved Domains (1) summary
    cd01994
    Location:2215
    Alpha_ANH_like_IV; This is a subfamily of Adenine nucleotide alpha hydrolases superfamily.Adeninosine nucleotide alpha hydrolases superfamily includes N type ATP PPases and ATP sulphurylases. It forms a apha/beta/apha fold which binds to Adenosine group. This subfamily ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    35217356..35546193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022708.2XP_016878197.1  diphthine--ammonia ligase isoform X2

  2. XM_011522160.2XP_011520462.1  diphthine--ammonia ligase isoform X3

    Conserved Domains (1) summary
    cd01994
    Location:2215
    Alpha_ANH_like_IV; This is a subfamily of Adenine nucleotide alpha hydrolases superfamily.Adeninosine nucleotide alpha hydrolases superfamily includes N type ATP PPases and ATP sulphurylases. It forms a apha/beta/apha fold which binds to Adenosine group. This subfamily ...
  3. XM_017022707.2XP_016878196.1  diphthine--ammonia ligase isoform X1

  4. XM_017022709.2XP_016878198.1  diphthine--ammonia ligase isoform X4

RNA

  1. XR_001751412.2 RNA Sequence

  2. XR_001751413.2 RNA Sequence

  3. XR_001751411.2 RNA Sequence

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