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DPH1 diphthamide biosynthesis 1 [ Homo sapiens (human) ]

Gene ID: 1801, updated on 6-Sep-2021

Summary

Official Symbol
DPH1provided by HGNC
Official Full Name
diphthamide biosynthesis 1provided by HGNC
Primary source
HGNC:HGNC:3003
See related
Ensembl:ENSG00000108963 MIM:603527
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DPH2L; OVCA1; DEDSSH; DPH2L1
Summary
The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 16.0) and 25 other tissues See more
Orthologs
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Genomic context

See DPH1 in Genome Data Viewer
Location:
17p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (2030112..2043898)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1933406..1947192)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene replication protein A1 Neighboring gene succinate dehydrogenase complex subunit C pseudogene Neighboring gene reticulon 4 receptor like 1 Neighboring gene uncharacterized LOC105371486 Neighboring gene uncharacterized LOC105371485 Neighboring gene OVCA2 serine hydrolase domain containing Neighboring gene microRNA 132 Neighboring gene microRNA 212

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

  • FLJ33211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-(3-amino-3-carboxypropyl)histidine synthase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
Names
DPH-like 1
DPH1 homolog
DPH2-like 1
S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1
candidate tumor suppressor in ovarian cancer 1
diphthamide biosynthesis protein 1
diphthamide biosynthesis protein 2 homolog-like 1
diphtheria toxin resistance protein 1
diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1
ovarian cancer-associated gene 1 protein
ovarian tumor suppressor candidate 1
NP_001333503.1
NP_001333504.1
NP_001333505.1
NP_001374.4

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_051946.1 RefSeqGene

    Range
    5001..18320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346574.1NP_001333503.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090617, AC099684
  2. NM_001346575.1NP_001333504.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC090617, AC099684
  3. NM_001346576.2NP_001333505.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC090617, AF321876, BC096088, U34880
    UniProtKB/Swiss-Prot
    Q9BZG8
  4. NM_001383.6NP_001374.4  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC090617, AF321876, U34880
    Consensus CDS
    CCDS42228.1
    Related
    ENSP00000263083.7, ENST00000263083.12
    Conserved Domains (1) summary
    pfam01866
    Location:76377
    Diphthamide_syn; Putative diphthamide synthesis protein

RNA

  1. NR_144474.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090617, AC099684
    Related
    ENST00000575667.6
  2. NR_144475.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090617, AC099684
  3. NR_144476.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090617, AC099684

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    2030112..2043898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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