DPH6 - diphthamine biosynthesis 6 Gene

Homo sapiens

Also known as ATPBD4

Gene ID: 89978 | Gene type: protein coding

About DPH6

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:35,144,977-35,546,165 (from NCBI)

This gene has 9 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in thyroid (RPKM 1.3), ovary (RPKM 0.9) and 25 other tissues.

Summary

Enables diphthine-ammonia Ligase activity. Predicted to be involved in peptidyl-diphthamide biosynthetic process from peptidyl-histidine. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

DPH6 Products(2)

mRNA	Protein	Name
NM_001141972.2	NP_001135444.1	diphthine--ammonia ligase isoform 2
NM_080650.4	NP_542381.1	diphthine--ammonia ligase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables diphthine-ammonia ligase activity	EXP EXP: Inferred from Experiment	23169644	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

DPH6 Protein Structure

Diphthami_syn_2

0
100
200
267 a.a.

Protein Preferred Names

Protein Names

diphthine--ammonia ligase

ATP binding domain 4

Related Diseases

Diseases

Alias

Spastic Paraplegia 11, Autosomal Recessive

SPG11	Hereditary Spastic Paraplegia 11
Hsp-Tcc	Autosomal Recessive Spastic Paraplegia Type 11
Nakamura-Osame Syndrome	Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome
Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum	Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
Autosomal Recessive Spastic Paraplegia 11	Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum	Arhsp-Tcc
Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum	Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum
Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum	Paraplegia, Spastic, Autosomal Recessive, Type 11
Nakamura Osame Syndrome

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03956	DPH6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DPH6	MGD	MGI:1913882
Rattus norvegicus	DPH6	RGD	RGD:1310006
Canis familiaris	DPH6	VGNC	VGNC:58300
Felis catus	DPH6	VGNC	VGNC:61598
Macaca mulatta	DPH6	VGNC	VGNC:72006
Bos taurus	DPH6	VGNC	VGNC:28181

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