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DHPS deoxyhypusine synthase [ Homo sapiens (human) ]

Gene ID: 1725, updated on 10-Oct-2019

Summary

Official Symbol
DHPSprovided by HGNC
Official Full Name
deoxyhypusine synthaseprovided by HGNC
Primary source
HGNC:HGNC:2869
See related
Ensembl:ENSG00000095059 MIM:600944
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

Genomic context

See DHPS in Genome Data Viewer
Location:
19p13.13
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12672470..12681887, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12786531..12792701, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene mannosidase alpha class 2B member 1 Neighboring gene WD repeat domain 83 opposite strand Neighboring gene WD repeat domain 83 Neighboring gene Sharpr-MPRA regulatory region 9902 Neighboring gene G protein subunit gamma 14 Neighboring gene F-box and WD repeat domain containing 9

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
    Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Hypusine synthesis from eIF5A-lysine, organism-specific biosystem (from REACTOME)
    Hypusine synthesis from eIF5A-lysine, organism-specific biosystemCytosolic eukaryotic translation initiation factor 5A (eIF5A) undergoes a unique two-step post-translational modification at Lys 50 via deoxyhypusine (Dhp) to hypusine (Hyp). In the first step deoxyh...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • hypusine biosynthesis, organism-specific biosystem (from BIOCYC)
    hypusine biosynthesis, organism-specific biosystemThe eukaryotic translation initiation factor 5A (eIF-5A) must be activated by post translational modification before it can participate in the initiation of protein synthesis. The modification involv...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
deoxyhypusine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
deoxyhypusine synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
peptidyl-lysine modification to peptidyl-hypusine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-lysine modification to peptidyl-hypusine IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-lysine modification to peptidyl-hypusine TAS
Traceable Author Statement
more info
 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
spermidine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
translation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
deoxyhypusine synthase
Names
migration-inducing gene 13
NP_001193903.1
NP_001356620.1
NP_001356621.1
NP_001356622.1
NP_001921.1
NP_037538.1

NCBI Reference Sequences (RefSeq)

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_001206974.1NP_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:55309
    DS; Deoxyhypusine synthase
  2. NM_001369691.1NP_001356620.1  deoxyhypusine synthase isoform e

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Conserved Domains (1) summary
    pfam01916
    Location:44296
    DS; Deoxyhypusine synthase
  3. NM_001369692.1NP_001356621.1  deoxyhypusine synthase isoform f

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Conserved Domains (1) summary
    pfam01916
    Location:44261
    DS; Deoxyhypusine synthase
  4. NM_001369693.1NP_001356622.1  deoxyhypusine synthase isoform g

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Conserved Domains (1) summary
    pfam01916
    Location:1168
    DS; Deoxyhypusine synthase
  5. NM_001930.4NP_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
    P49366
    UniProtKB/TrEMBL
    A0A024R7D0
    Related
    ENSP00000210060.6, ENST00000210060.12
    Conserved Domains (1) summary
    pfam01916
    Location:45351
    DS; Deoxyhypusine synthase
  6. NM_013406.2NP_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/Swiss-Prot
    P49366
    UniProtKB/TrEMBL
    A0A024R7E9
    Related
    ENSP00000221303.5, ENST00000351660.9
    Conserved Domains (1) summary
    pfam01916
    Location:45304
    DS; Deoxyhypusine synthase

RNA

  1. NR_038192.1 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
  2. NR_161467.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010422
  3. NR_161468.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010422
  4. NR_161469.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010422
    Related
    ENST00000601639.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12672470..12681887 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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