Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83475
Gene name	Deoxyhypusine hydroxylase
Gene symbol	DOHH
Synonyms (NCBI Gene)	HLRC1NEDMVIChDOHH
Chromosome	19
Chromosome location	19p13.3
Summary	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 initi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006887	hsa-miR-331-3p	Luciferase reporter assayqRT-PCRWestern blot	22908221
MIRT006888	hsa-miR-642a-5p	Luciferase reporter assayqRT-PCRWestern blot	22908221
MIRT006887	hsa-miR-331-3p	Luciferase reporter assay	22908221
MIRT006887	hsa-miR-331-3p	PAR-CLIP	26701625
MIRT006888	hsa-miR-642a-5p	PAR-CLIP	26701625
MIRT943085	hsa-miR-1224-3p	CLIP-seq
MIRT943086	hsa-miR-1260	CLIP-seq
MIRT943087	hsa-miR-1260b	CLIP-seq
MIRT943088	hsa-miR-1280	CLIP-seq
MIRT943089	hsa-miR-149	CLIP-seq
MIRT943090	hsa-miR-4287	CLIP-seq
MIRT943091	hsa-miR-4685-3p	CLIP-seq
MIRT943092	hsa-miR-4780	CLIP-seq
MIRT943093	hsa-miR-623	CLIP-seq
MIRT943094	hsa-miR-642a	CLIP-seq
MIRT1979236	hsa-miR-1225-3p	CLIP-seq
MIRT1979237	hsa-miR-1275	CLIP-seq
MIRT1979238	hsa-miR-361-3p	CLIP-seq
MIRT1979239	hsa-miR-4257	CLIP-seq
MIRT1979240	hsa-miR-4267	CLIP-seq
MIRT1979241	hsa-miR-4323	CLIP-seq
MIRT1979242	hsa-miR-4447	CLIP-seq
MIRT1979243	hsa-miR-4472	CLIP-seq
MIRT1979244	hsa-miR-4525	CLIP-seq
MIRT1979245	hsa-miR-4665-5p	CLIP-seq
MIRT1979246	hsa-miR-4723-5p	CLIP-seq
MIRT1979247	hsa-miR-625	CLIP-seq
MIRT943094	hsa-miR-642a	CLIP-seq
MIRT2214381	hsa-miR-3194-3p	CLIP-seq
MIRT2214382	hsa-miR-329	CLIP-seq
MIRT2214383	hsa-miR-362-3p	CLIP-seq
MIRT2214384	hsa-miR-3941	CLIP-seq
MIRT2214385	hsa-miR-466	CLIP-seq
MIRT2214386	hsa-miR-4672	CLIP-seq
MIRT1979246	hsa-miR-4723-5p	CLIP-seq
MIRT2214387	hsa-miR-603	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IDA	25865244
GO:0005506	Function	Iron ion binding	IMP	16533814, 19706422
GO:0005515	Function	Protein binding	IPI	17213197, 33961781
GO:0005829	Component	Cytosol	TAS
GO:0008612	Process	Peptidyl-lysine modification to peptidyl-hypusine	IMP	16371467, 16533814, 19706422
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019135	Function	Deoxyhypusine monooxygenase activity	IBA
GO:0019135	Function	Deoxyhypusine monooxygenase activity	IEA
GO:0019135	Function	Deoxyhypusine monooxygenase activity	IMP	16371467, 16533814, 19706422
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
611262	28662	ENSG00000129932

Q9BU89

Protein name

Deoxyhypusine hydroxylase (hDOHH) (EC 1.14.99.29) (Deoxyhypusine dioxygenase) (Deoxyhypusine monooxygenase) (HEAT-like repeat-containing protein 1)

Protein function

Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)-L-lysine intermediate produced by deoxyhypusine synthase/DHPS on a critical lysine of the eukaryotic translation initiation factor 5A/eIF-5A. This is the second step of the post-translationa

PDB

4D4Z , 4D50

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13646	HEAT_2	41 → 127		Family
PF13646	HEAT_2	190 → 278		Family

Sequence

MVTEQEVDAIGQTLVDPKQPLQARFRALFTLRGLGGPGAIAWISQAFDDDSALLKHELAY
CLGQMQDARAIPMLVDVLQDTRQEPMVRHEAGEALGAIGDPEVLEILKQYSSDPVIEVAE
TCQLAVRRLEWLQQHGGEPAAGPYLSVDPAPPAEERDVGRLREALLDESRPLFERYRAMF
ALRNAGGEEAALALAEGLHCGSALFRHEVGYVLGQLQHEAAVPQLAAALARCTENPMVRH
ECAEALGAIARPACLAALQAHADDPERVVRESCEVALDMYEHETGRAFQYADGLEQLRGA
PS

Sequence length

302

Interactions

View interactions

	Reactome
			Hypusine synthesis from eIF5A-lysine

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DOHH related neurodevelopmental disorder	Pathogenic	rs2082890188, rs1707310281, rs2122051585, rs748141704	RCV001882781 RCV001868401 RCV001868402 RCV001868404	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	Pathogenic	rs2082890188, rs1707310281, rs2122051585, rs748141704	RCV002286533 RCV002286534 RCV002286536 RCV002286538	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DOHH-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	31309259		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11801463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31309259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35858628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31309259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	35858628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22927971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22927971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22927971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35858628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21860023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	31309259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22908221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29295892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	31309259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35858628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22908221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22908221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24220243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DOHH (deoxyhypusine hydroxylase)