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DPH1 diphthamide biosynthesis 1 [ Homo sapiens (human) ]

Gene ID: 1801, updated on 18-Sep-2024

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; AllianceGenome:HGNC:3003
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2030112..2043898)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1918050..1931805)
RS_2024_09 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 SDHC pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1810454-1810962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1810963-1811470 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:1825407-1825589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1834946-1835511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1835512-1836076 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:1846458-1846649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1849416-1849974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1851145-1851648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1851649-1852150 Neighboring gene reticulon 4 receptor like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1866080-1866746 Neighboring gene MPRA-validated peak2677 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr17:1879245-1879860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1885529-1886370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1886371-1887212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1889733-1890236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1890237-1890738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1894981-1895842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1895843-1896703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1903279-1903789 Neighboring gene uncharacterized LOC105371486 Neighboring gene uncharacterized LOC105371485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1927475-1928020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1929189-1929689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1933195-1933786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1933787-1934378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7969 Neighboring gene uncharacterized LOC124903896 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 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

Clone Names

  • FLJ33211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 2-(3-amino-3-carboxypropyl)histidine synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables 4 iron, 4 sulfur cluster binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein histidyl modification to diphthamide IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein histidyl modification to diphthamide IEA
Inferred from Electronic Annotation
more info
 
involved_in protein histidyl modification to diphthamide ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
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
    5042..18787
    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
    UniProtKB/TrEMBL
    I3L1H5
  2. NM_001346575.1NP_001333504.1  2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC090617, AC099684
    UniProtKB/TrEMBL
    I3L1H5
  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/TrEMBL
    B2RA29
  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
    CCDS42228.2
    UniProtKB/Swiss-Prot
    A0A6Q8JGF9, D3DTI3, Q16439, Q4VBA2, Q9BTW7, Q9BZG8, Q9UCY0
    UniProtKB/TrEMBL
    I3L1H5
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1918050..1931805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)