DHPS deoxyhypusine synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHPSprovided by HGNC
Official Full Name: deoxyhypusine synthaseprovided by HGNC
Primary source: HGNC:HGNC:2869
See related: Ensembl:ENSG00000095059 MIM:600944; AllianceGenome:HGNC:2869
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: DS; DHS; MIG13; NEDSSWI
Summary: This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
Expression: Ubiquitous expression in ovary (RPKM 15.4), brain (RPKM 14.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12672470..12681880, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12796968..12806380, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12783284..12792694, complement)

Chromosome 19 - NC_000019.10 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.
Title: Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients.
Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
Title: Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.
Title: Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.
eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation.
Title: eIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation.
Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase.
Title: Half Way to Hypusine-Structural Basis for Substrate Recognition by Human Deoxyhypusine Synthase.
DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFbeta/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53
Title: DHPS-dependent hypusination of eIF5A1/2 is necessary for TGFβ/fibronectin-induced breast cancer metastasis and associates with prognostically unfavorable genomic alterations in TP53.
data suggest that rare biallelic variants in DHPS result in reduced enzyme activity that limits the hypusination of eIF5A and are associated with a neurodevelopmental disorder
Title: Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
the use of N1-Guanyl-1,7-diaminoheptane, a DHPS inhibitor, resulted in a significant decrease in tumor formation in vivo. In patients with esophageal squamous cell carcinoma (ESCC), overexpression of DHPS in ESCC tumors was significantly associated with worse recurrence-free survival, and correlated with distant metastasis.
Title: The hypusine cascade promotes cancer progression and metastasis through the regulation of RhoA in squamous cell carcinoma.
Whereas, dhps mutation study revealed that triple mutant haplotype AGEAA (S436A+A437G+K540E) associated with Sulphadoxine resistance was found among 26% of P. falciparum field isolates.
Title: Genetic polymorphisms associated with sulphadoxine-pyrimethamine drug resistance among Plasmodium falciparum field isolates in malaria endemic areas of Assam.
eIF-5A as well as the hypusine-forming enzymes deoxyhypusine synthase (DHS) and deoxyhypusine hydroxylase (DOHH) are highly overexpressed in glioblastoma patient sample
Title: Expression of eukaryotic initiation factor 5A and hypusine forming enzymes in glioblastoma patient samples: implications for new targeted therapies.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with seizures and speech and walking impairment MedGen: C5193119 OMIM: 618480 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S623E (e-PCR)
- UniSTS:43524

WI-19573 (e-PCR)
- UniSTS:26378

D19S677E (e-PCR)
- UniSTS:150580

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables deoxyhypusine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables deoxyhypusine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-lysine modification to peptidyl-hypusine	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptidyl-lysine modification to peptidyl-hypusine	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in spermidine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in spermidine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in translation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: deoxyhypusine synthase

Names: migration-inducing gene 13

NP_001193903.1

EC 2.5.1.46

NP_001356620.1

EC 2.5.1.46

NP_001356621.1

EC 2.5.1.46

NP_001356622.1

EC 2.5.1.46

NP_001921.1

EC 2.5.1.46

NP_037538.1

EC 2.5.1.46

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_001206974.2 → NP_001193903.1 deoxyhypusine synthase isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AC010422, AL520040, AW250887

Consensus CDS

CCDS59354.1

UniProtKB/Swiss-Prot

P49366

Related

ENSP00000471886.1, ENST00000594424.5

Conserved Domains (1) summary

pfam01916
Location:55 → 309

DS; Deoxyhypusine synthase
NM_001369691.1 → NP_001356620.1 deoxyhypusine synthase isoform e

Status: REVIEWED

Source sequence(s)

AC010422

Conserved Domains (1) summary

pfam01916
Location:44 → 296

DS; Deoxyhypusine synthase
NM_001369692.1 → NP_001356621.1 deoxyhypusine synthase isoform f

Status: REVIEWED

Source sequence(s)

AC010422

UniProtKB/TrEMBL

Q5J8M5

Conserved Domains (1) summary

pfam01916
Location:44 → 261

DS; Deoxyhypusine synthase
NM_001369693.1 → NP_001356622.1 deoxyhypusine synthase isoform g

Status: REVIEWED

Source sequence(s)

AC010422

Conserved Domains (1) summary

pfam01916
Location:1 → 171

DS; Deoxyhypusine synthase
NM_001930.4 → NP_001921.1 deoxyhypusine synthase isoform a

See identical proteins and their annotated locations for NP_001921.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AW250887, DA524549, U79262

Consensus CDS

CCDS12276.1

UniProtKB/Swiss-Prot

A8K688, M0R1I5, P49366, Q13184, Q13276, Q9UDG0

Related

ENSP00000210060.6, ENST00000210060.12

Conserved Domains (1) summary

pfam01916
Location:45 → 352

DS; Deoxyhypusine synthase
NM_013406.3 → NP_037538.1 deoxyhypusine synthase isoform b

See identical proteins and their annotated locations for NP_037538.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AC010422, AW250887, BU844677, DA524549, U26266

Consensus CDS

CCDS12277.1

UniProtKB/TrEMBL

Q5J8M5

Related

ENSP00000221303.5, ENST00000351660.9

Conserved Domains (1) summary

pfam01916
Location:45 → 304

DS; Deoxyhypusine synthase

RNA

NR_038192.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate 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)

AW250887, AY336090, DA524549

Related

ENST00000601537.5
NR_161467.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC010422
NR_161468.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC010422
NR_161469.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC010422

Related

ENST00000601639.5