Seroatlas · Human Serome Atlas

DOHH

Deoxyhypusine hydroxylase

Also known as: DOHH_HUMAN, HLRC1, MGC4293

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BU89
Gene
DOHH
Ensembl
ENSG00000129932
Chromosome
19
Canonical length
302 aa
Protein class
Enzymes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

Canonical amino-acid sequenceUniProt

302 residues, UniProt reviewed canonical sequence.

>Q9BU89|DOHH
     1  MVTEQEVDAI GQTLVDPKQP LQARFRALFT LRGLGGPGAI AWISQAFDDD SALLKHELAY
    61  CLGQMQDARA IPMLVDVLQD TRQEPMVRHE AGEALGAIGD PEVLEILKQY SSDPVIEVAE
   121  TCQLAVRRLE WLQQHGGEPA AGPYLSVDPA PPAEERDVGR LREALLDESR PLFERYRAMF
   181  ALRNAGGEEA ALALAEGLHC GSALFRHEVG YVLGQLQHEA AVPQLAAALA RCTENPMVRH
   241  ECAEALGAIA RPACLAALQA HADDPERVVR ESCEVALDMY EHETGRAFQY ADGLEQLRGA
   301  PS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DOHH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
39 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 39 nTPM
  • midbrain: 32 nTPM
  • hippocampal formation: 26 nTPM
  • basal ganglia: 24 nTPM
  • skeletal muscle: 23 nTPM
  • cerebral cortex: 23 nTPM

Single-cell type

  • esophageal basal cells: 50 nCPM
  • esophageal suprabasal cells: 48 nCPM
  • cytotrophoblasts: 37 nCPM
  • migrating cytotrophoblasts: 37 nCPM
  • syncytiotrophoblasts: 37 nCPM
  • oligodendrocytes: 37 nCPM

Immune cell

  • naive B-cell: 17 nTPM
  • memory CD8 T-cell: 15 nTPM
  • naive CD4 T-cell: 14 nTPM
  • plasmacytoid DC: 14 nTPM
  • T-reg: 13 nTPM
  • naive CD8 T-cell: 12 nTPM

Brain region

  • white matter: 39 nTPM
  • medulla oblongata: 34 nTPM
  • midbrain: 30 nTPM
  • cerebellum: 30 nTPM
  • basal ganglia: 30 nTPM
  • pons: 30 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DOHH.

Disease | AllUniProt

Conditions DOHH is implicated in, by any mechanism.

  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment (NEDMVIC) MIM:620066

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 83 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
  • DOHH related neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.08
gnomAD pLI
0.02
gnomAD missense Z
0.94
DepMap mean gene effect
-0.4
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

  • peptidyl-lysine modification to peptidyl-hypusine

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DOHH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DOHH as an antibody target. Whether an autoantibody or antibody against DOHH could matter depends on whether native DOHH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DOHH is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DOHH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DOHH. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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