Dph3 diphthamine biosynthesis 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dph3provided by MGI
Official Full Name: diphthamine biosynthesis 3provided by MGI
Primary source: MGI:MGI:1922658
See related: Ensembl:ENSMUSG00000021905 AllianceGenome:MGI:1922658
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: Desr1; KTI11; Zcsl2; DELGIP1; DelgipP1
Summary: Predicted to enable ferrous iron binding activity and iron chaperone activity. Involved in protein histidyl modification to diphthamide. Predicted to be located in cytosol and nucleoplasm. Orthologous to several human genes including DPH3 (diphthamide biosynthesis 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 10.1), cerebellum adult (RPKM 7.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 19.4 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (31802474..31807649, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (32080517..32085692, complement)

Chromosome 14 - NC_000080.7 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?

we found that Dph3 promotes melanoma migration and invasion through the AKT signaling pathway.
Title: Silencing of diphthamide synthesis 3 (Dph3) reduces metastasis of murine melanoma.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables electron transfer activity	ISO Inferred from Sequence Orthology more info	PubMed
enables ferrous iron binding	ISS Inferred from Sequence or Structural Similarity more info
enables iron chaperone activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of protein secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of binding	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein histidyl modification to diphthamide	ISS Inferred from Sequence or Structural Similarity more info
involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: diphthamide biosynthesis protein 3

Names: CSL-type zinc finger-containing protein 2; DPH3 homolog (KTI11, S. cerevisiae); delGEF-interacting protein 1; zinc finger, CSL domain 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)

NM_001047433.2 → NP_001040898.1 diphthamide biosynthesis protein 3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC154846, AK048097, DN175457

Consensus CDS

CCDS36860.1

UniProtKB/TrEMBL

D3YXV3

Related

ENSMUSP00000120583.2, ENSMUST00000124303.9

Conserved Domains (1) summary

pfam05207
Location:6 → 45

zf-CSL; CSL zinc finger
NM_001284346.1 → NP_001271275.1 diphthamide biosynthesis protein 3 isoform 1

See identical proteins and their annotated locations for NP_001271275.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AC154846, AK048097, DN175457

Consensus CDS

CCDS36861.1

UniProtKB/Swiss-Prot

Q8K0W9

Related

ENSMUSP00000022461.5, ENSMUST00000022461.11

Conserved Domains (1) summary

pfam05207
Location:6 → 60

zf-CSL; CSL zinc finger
NM_172254.4 → NP_758458.1 diphthamide biosynthesis protein 3 isoform 1

See identical proteins and their annotated locations for NP_758458.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 3 encode the same isoform.

Source sequence(s)

AC154846, AK048097, DN175457

Consensus CDS

CCDS36861.1

UniProtKB/Swiss-Prot

Q8K0W9

Related

ENSMUSP00000068491.6, ENSMUST00000067955.12

Conserved Domains (1) summary

pfam05207
Location:6 → 60

zf-CSL; CSL zinc finger

RNA

NR_104303.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC154846, AK048097, DN175457
NR_104304.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC154846, AK017764, AK048097, DN175457

Related

ENSMUST00000112001.9
NR_104305.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (6) uses an alternate 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AC154846, AK048097, BG082470, BY257422