DOHH - deoxyhypusine hydroxylase Gene

Homo sapiens

Also known as HLRC1; hDOHH; NEDMVIC

Gene ID: 83475 | Gene type: protein coding

About DOHH

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,490,824-3,500,674 (from NCBI)

This gene has 4 transcripts (splice variants) and 105 orthologues. Ubiquitous expression in kidney (RPKM 3.6), brain (RPKM 3.1) and 25 other tissues.

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 initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

DOHH Products(2)

mRNA	Protein	Name
NM_001145165.2	NP_001138637.1	deoxyhypusine hydroxylase
NM_031304.5	NP_112594.1	deoxyhypusine hydroxylase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables deoxyhypusine monooxygenase activity	IMP IMP: Inferred from mutant phenotype	16371467	GOA
enables iron ion binding	IDA IDA: Inferred from direct assay	25865244	GOA
enables iron ion binding	IMP IMP: Inferred from mutant phenotype	16533814	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17213197	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in peptidyl-lysine modification to peptidyl-hypusine	IMP IMP: Inferred from mutant phenotype	16371467	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOHH Protein Structure

HEAT_2

0
100
200
302 a.a.

Protein Preferred Names

Protein Names

deoxyhypusine hydroxylase

HEAT-like (PBS lyase) repeat containing 1

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment

NEDMVIC

Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome	Mental Retardation, X-Linked, Snyder-Robinson Type
Spermine Synthase Deficiency	Srs
Snyder-Robinson Mental Retardation Syndrome	X-Linked Intellectual Disability Snyder-Robinson Type
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type	Snyder-Robinson X-Linked Mental Retardation Syndrome

Keratosis Follicularis Spinulosa Decalvans

Kfsd	Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153705	BTK-IN-25	Inhibitor	/	Unkown
HY-169307	BTK-IN-38	Inhibitor	/	Unkown
HY-RS03932	DOHH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-121722	Deoxyhypusine		/	Unkown
HY-126171	Hypusine		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DOHH	RGD	RGD:1304783
Macaca mulatta	DOHH	VGNC	VGNC:109617
Canis familiaris	DOHH	VGNC	VGNC:40054
Mus musculus	DOHH	MGD	MGI:1915964
Bos taurus	DOHH	VGNC	VGNC:28164
Felis catus	DOHH	VGNC	VGNC:61579

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