GON7 - GON7 subunit of KEOPS complex Gene

Homo sapiens

Also known as PNAS-127; C14orf142

Gene ID: 84520 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27903914	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in tRNA threonylcarbamoyladenosine modification	IDA IDA: Inferred from direct assay	31481669	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05598	GON7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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