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DPH3 diphthamide biosynthesis 3 [ Homo sapiens (human) ]

Gene ID: 285381, updated on 23-Nov-2021

Summary

Official Symbol
DPH3provided by HGNC
Official Full Name
diphthamide biosynthesis 3provided by HGNC
Primary source
HGNC:HGNC:27717
See related
Ensembl:ENSG00000154813 MIM:608959
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
DESR1; DPH3A; KTI11; ZCSL2; DELGIP; DELGIP1
Summary
This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in thyroid (RPKM 7.2), small intestine (RPKM 6.5) and 25 other tissues See more
Orthologs
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Genomic context

See DPH3 in Genome Data Viewer
Location:
3p25.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (16257061..16264943, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16298568..16306450, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11264 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 15 Neighboring gene Sharpr-MPRA regulatory region 8904 Neighboring gene oxidoreductase NAD binding domain containing 1 Neighboring gene THAP domain containing 5 pseudogene 2 Neighboring gene uncharacterized LOC107986065

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20197

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol 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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DPH3 homolog
Names
CSL-type zinc finger-containing protein 2
DPH3 homolog (KTI11, S. cerevisiae)
DPH3, KTI11 homolog
DPH3A, KTI11 homolog A
Del-GEF interacting protein
deafness locus putative guanine nucleotide exchange factor interacting protein 1
delGEF-interacting protein 1
diphtheria toxin and Pseudomonas exotoxin A sensitivity required gene 1
zinc finger, CSL domain containing 2
zinc finger, CSL-type containing 2

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.

mRNA and Protein(s)

  1. NM_001047434.3NP_001040899.1  DPH3 homolog isoform 2

    See identical proteins and their annotated locations for NP_001040899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC090953, AK022970
    Consensus CDS
    CCDS43058.1
    UniProtKB/Swiss-Prot
    Q96FX2
    Related
    ENSP00000373285.4, ENST00000383775.4
    Conserved Domains (1) summary
    pfam05207
    Location:645
    zf-CSL; CSL zinc finger
  2. NM_206831.3NP_996662.1  DPH3 homolog isoform 1

    See identical proteins and their annotated locations for NP_996662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090953, DA875039
    Consensus CDS
    CCDS2629.1
    UniProtKB/Swiss-Prot
    Q96FX2
    UniProtKB/TrEMBL
    A0A024R2P5
    Related
    ENSP00000419599.1, ENST00000488423.2
    Conserved Domains (1) summary
    pfam05207
    Location:660
    zf-CSL; CSL zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    16257061..16264943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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