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    DHPS deoxyhypusine synthase [ Homo sapiens (human) ]

    Gene ID: 1725, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DHPS in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10155 Neighboring gene mannosidase alpha class 2B member 1 Neighboring gene MPRA-validated peak3365 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12775226-12776174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12776175-12777122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12781177-12781850 Neighboring gene WD repeat domain 83 opposite strand Neighboring gene WD repeat domain 83 Neighboring gene CRISPRi-FlowFISH-validated DHPS regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14071 Neighboring gene CRISPRi-FlowFISH-validated WDR83OS regulatory elements Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12793915-12794437 Neighboring gene G protein subunit gamma 14 Neighboring gene F-box and WD repeat domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14072

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001206974.2NP_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
      UniProtKB/TrEMBL
      Q5J8M5
      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:1171
      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
      A8K688, M0R1I5, P49366, Q13184, Q13276, Q9UDG0
      Related
      ENSP00000210060.6, ENST00000210060.12
      Conserved Domains (1) summary
      pfam01916
      Location:45352
      DS; Deoxyhypusine synthase
    6. NM_013406.3NP_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:45304
      DS; Deoxyhypusine synthase

    RNA

    1. 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
    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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12672470..12681880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12796968..12806380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)