GON7 GON7 subunit of KEOPS complex [Homo sapiens (human)] - Gene

Summary

Official Symbol: GON7provided by HGNC
Official Full Name: GON7 subunit of KEOPS complexprovided by HGNC
Primary source: HGNC:HGNC:20356
See related: Ensembl:ENSG00000170270 MIM:617436; AllianceGenome:HGNC:20356
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PNAS-127; C14orf142
Summary: Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in colon (RPKM 9.4), kidney (RPKM 8.3) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 14q32.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (93202894..93207065, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (87434784..87438955, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (93669239..93673410, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. The structure and cellular characterization of GON7 suggest its involvement in the cellular stability and quaternary arrangement of the KEOPS complex.
Title: Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Galloway-Mowat syndrome 9 MedGen: C5562016 OMIM: 619603 GeneReviews: Not available	not available

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70184 (e-PCR)
- UniSTS:29262

STS-W90738 (e-PCR)
- UniSTS:4978

NoName (e-PCR)
- UniSTS:486882

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in tRNA threonylcarbamoyladenosine modification	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of EKC/KEOPS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of EKC/KEOPS complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EKC/KEOPS complex subunit GON7

Names: GON7, KEOPS complex subunit homolog; uncharacterized protein C14orf142

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.