Dph1 diphthamide biosynthesis 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dph1provided by MGI
Official Full Name: diphthamide biosynthesis 1provided by MGI
Primary source: MGI:MGI:2151233
See related: Ensembl:ENSMUSG00000078789 AllianceGenome:MGI:2151233
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ovca1; Dph2l1; 2310011M22Rik; 4930488F09Rik
Summary: Enables 2-(3-amino-3-carboxypropyl)histidine synthase activity. Involved in protein histidyl modification to diphthamide. Acts upstream of or within fibroblast proliferation. Predicted to be located in cell junction and nucleoplasm. Predicted to be part of 2-(3-amino-3-carboxypropyl)histidine synthase complex. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; liver; and lung. Used to study Miller-Dieker lissencephaly syndrome and diphthamide deficiency syndrome 1. Human ortholog(s) of this gene implicated in diphthamide deficiency syndrome 1. Orthologous to human DPH1 (diphthamide biosynthesis 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 36.9), ovary adult (RPKM 28.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 45.76 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (75068469..75081309, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (75177643..75190483, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings suggest that OVCA1 deficiency in the neural crest contributes to the craniofacial abnormalities in patients with MDS.
Title: Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome.
Ovca1 is a tumor suppressor that can modify p53-induced tumorigenesis and suggest that it acts as a positive regulator for cell cycle progression.
Title: Ovca1 regulates cell proliferation, embryonic development, and tumorigenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

AW551873 (e-PCR)
- UniSTS:180254

NoName (e-PCR)
- UniSTS:493117

Dph1 (e-PCR), detects polymorphism
- UniSTS:265073

Dph2l1 (e-PCR), detects polymorphism
- UniSTS:265074

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-(3-amino-3-carboxypropyl)histidine synthase activity	IGI Inferred from Genetic Interaction more info	PubMed
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
acts_upstream_of_or_within fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
part_of 2-(3-amino-3-carboxypropyl)histidine synthase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cell junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1

Names: DPH1 homolog; DPH2-like 1; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 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; mmDph1; ovarian cancer-associated gene 1 protein homolog

NP_652762.2

EC 2.5.1.108

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.