GON7 - GON7 subunit of KEOPS complex Gene

Also Known as PNAS-127; C14orf142

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84520

About GON7

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:93,202,894-93,207,065 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 95 orthologues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 9.4), kidney (RPKM 8.3) and 25 other tissues.

Summary

Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. [provided by Alliance of Genome Resources, Apr 2022]

GON7 Products (1)

mRNA Protein Name
NM_032490.5 NP_115879.2 EKC/KEOPS complex subunit GON7

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
27903914 GOA
Biological Process GO Annotation Evidence References Source
involved in tRNA threonylcarbamoyladenosine modification IDA
IDA: Inferred from direct assay
31481669 GOA
Cellular Component GO Annotation Evidence References Source
part of EKC/KEOPS complex IDA
IDA: Inferred from direct assay
27903914 GOA
located in nucleus IDA
IDA: Inferred from direct assay
27903914 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

GON7 Protein Structure

DUF4611

DUF4611: Domain of unknown function (DUF4611) (3 - 98)

  • 0
  • 100 a.a.
Protein Preferred Names Protein Names

EKC/KEOPS complex subunit GON7

  • GON7, KEOPS complex subunit homolog

GON7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
X-Ray Diffraction
31481669
Intra
GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
Anti Tag CoIP
31481669
Intra
GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
SAXS
31481669
Intra
GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
NMR
31481669
Intra
GON7 Q9BXV9 LAGE3 Homo sapiens Q14657
GMS
31481669
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Galloway-Mowat Syndrome 9

  • GAMOS9
Galloway-Mowat Syndrome

  • Galloway Mowat Syndrome

  • Galloway Syndrome

  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

  • Microcephaly Nephrosis Syndrome

  • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

  • Nephrosis Neuronal Dysmigration Syndrome

  • Microcephaly-Hiatus Hernia-Nephrotic Syndrome

  • Nephrosis-Neuronal Dysmigration Syndrome
Galloway-Mowat Syndrome 1

  • Galloway Syndrome

  • Nephrosis-Neuronal Dysmigration Syndrome

  • Nephrosis-Microcephaly Syndrome

  • Camos

  • Scar5

  • GAMOS1

  • Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

  • Microcephaly, Hiatal Hernia And Nephrotic Syndrome

  • Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

  • Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

  • Scar5, Formerly

  • Spinocerebellar Ataxia Autosomal Recessive 5

  • Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

  • Camos Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

  • Galloway-Mowat Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive, 5

  • Galloway Mowat Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive 5
Galloway-Mowat Syndrome 2
Hypertensive Encephalopathy

  • Encephalopathy, Hypertensive
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Polymicrogyria

  • Pmg
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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. Product Name
Effect
Purity
Rare Diseases
HY-RS05598 GON7 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus GON7 MGD MGI:4845848
Rattus norvegicus GON7 RGD RGD:2302582
Felis catus GON7 VGNC VGNC:62645
Macaca mulatta GON7 VGNC VGNC:108301
Canis familiaris GON7 VGNC VGNC:41349
Bos taurus GON7 VGNC VGNC:29496
Others GON7 NCBI