DPH6 - diphthamine biosynthesis 6 Gene

Also Known as ATPBD4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 89978

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 Références 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

Diphthami_syn_2: Diphthamide synthase (1 - 229)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS03956 DPH6 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others DPH6 NCBI