GON7_HUMAN
ID GON7_HUMAN Reviewed; 100 AA.
AC Q9BXV9; Q0D2N1; Q0P6C4; Q3B7W5;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=EKC/KEOPS complex subunit GON7 {ECO:0000305};
GN Name=GON7 {ECO:0000312|HGNC:HGNC:20356};
GN ORFNames=C14orf142 {ECO:0000312|HGNC:HGNC:20356};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Hypothalamus, Leiomyosarcoma, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-100.
RC TISSUE=Placenta, and T-cell;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 61-100.
RC TISSUE=Promyelocytic leukemia;
RA Yu W.-Q., Sun B.-Z., Chai Y.-B., Zhu F., Liu X.-S., Li Z., Lu F., Yan W.,
RA Yang H., Zhao Z.-L.;
RT "Human acute promyelocytic leukemia cell line NB4's apoptosis related
RT genes.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [6]
RP FUNCTION, IDENTIFICATION IN THE EKC/KEOPS COMPLEX, AND SUBCELLULAR
RP LOCATION.
RX PubMed=27903914; DOI=10.1093/nar/gkw1181;
RA Wan L.C., Maisonneuve P., Szilard R.K., Lambert J.P., Ng T.F., Manczyk N.,
RA Huang H., Laister R., Caudy A.A., Gingras A.C., Durocher D., Sicheri F.;
RT "Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a
RT core subunit homologous to yeast Gon7.";
RL Nucleic Acids Res. 45:805-817(2017).
RN [7] {ECO:0007744|PDB:6GWJ}
RP X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) IN COMPLEX WITH OSGEP AND LAGE3,
RP FUNCTION, IDENTIFICATION IN THE EKC/KEOPS COMPLEX, VARIANT GAMOS9
RP 7-TYR--SER-100 DEL, AND CHARACTERIZATION OF VARIANT GAMOS9 7-TYR--SER-100
RP DEL.
RX PubMed=31481669; DOI=10.1038/s41467-019-11951-x;
RA Arrondel C., Missoury S., Snoek R., Patat J., Menara G., Collinet B.,
RA Liger D., Durand D., Gribouval O., Boyer O., Buscara L., Martin G.,
RA Machuca E., Nevo F., Lescop E., Braun D.A., Boschat A.C., Sanquer S.,
RA Guerrera I.C., Revy P., Parisot M., Masson C., Boddaert N., Charbit M.,
RA Decramer S., Novo R., Macher M.A., Ranchin B., Bacchetta J., Laurent A.,
RA Collardeau-Frachon S., van Eerde A.M., Hildebrandt F., Magen D.,
RA Antignac C., van Tilbeurgh H., Mollet G.;
RT "Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to
RT Galloway-Mowat syndrome.";
RL Nat. Commun. 10:3967-3967(2019).
CC -!- FUNCTION: Component of the EKC/KEOPS complex that is required for the
CC formation of a threonylcarbamoyl group on adenosine at position 37
CC (t(6)A37) in tRNAs that read codons beginning with adenine
CC (PubMed:27903914, PubMed:31481669). The complex is probably involved in
CC the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP
CC (TC-AMP) to the N6 group of A37 (PubMed:27903914, PubMed:31481669).
CC GON7 plays a supporting role to the catalytic subunit OSGEP in the
CC complex (PubMed:27903914, PubMed:31481669).
CC {ECO:0000269|PubMed:31481669, ECO:0000305|PubMed:27903914}.
CC -!- SUBUNIT: Component of the EKC/KEOPS complex composed of at least GON7,
CC TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
CC {ECO:0000269|PubMed:27903914, ECO:0000269|PubMed:31481669}.
CC -!- INTERACTION:
CC Q9BXV9; Q14657: LAGE3; NbExp=15; IntAct=EBI-6256593, EBI-1052105;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27903914}.
CC -!- DISEASE: Galloway-Mowat syndrome 9 (GAMOS9) [MIM:619603]: A form of
CC Galloway-Mowat syndrome, a severe renal-neurological disease
CC characterized by early-onset nephrotic syndrome associated with
CC microcephaly, central nervous system abnormalities, developmental
CC delays, and a propensity for seizures. Brain anomalies include gyration
CC defects ranging from lissencephaly to pachygyria and polymicrogyria,
CC and cerebellar hypoplasia. Most patients show facial dysmorphism
CC characterized by a small, narrow forehead, large/floppy ears, deep-set
CC eyes, and micrognathia. Additional variable features are visual
CC impairment and arachnodactyly. Most patients die in early childhood.
CC GAMOS9 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:31481669}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK07544.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; BC021733; AAH21733.2; -; mRNA.
DR EMBL; BC065216; AAH65216.1; -; mRNA.
DR EMBL; BC107429; AAI07430.2; -; mRNA.
DR EMBL; BC109390; AAI09391.2; -; mRNA.
DR EMBL; CR613456; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR590920; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF277185; AAK07544.1; ALT_SEQ; mRNA.
DR CCDS; CCDS41981.1; -.
DR RefSeq; NP_115879.2; NM_032490.4.
DR PDB; 6GWJ; X-ray; 1.95 A; D=1-100.
DR PDBsum; 6GWJ; -.
DR AlphaFoldDB; Q9BXV9; -.
DR SASBDB; Q9BXV9; -.
DR SMR; Q9BXV9; -.
DR BioGRID; 124114; 16.
DR IntAct; Q9BXV9; 5.
DR STRING; 9606.ENSP00000306320; -.
DR iPTMnet; Q9BXV9; -.
DR PhosphoSitePlus; Q9BXV9; -.
DR BioMuta; GON7; -.
DR DMDM; 212276431; -.
DR EPD; Q9BXV9; -.
DR jPOST; Q9BXV9; -.
DR MassIVE; Q9BXV9; -.
DR MaxQB; Q9BXV9; -.
DR PaxDb; Q9BXV9; -.
DR PeptideAtlas; Q9BXV9; -.
DR PRIDE; Q9BXV9; -.
DR ProteomicsDB; 79524; -.
DR Antibodypedia; 64080; 19 antibodies from 11 providers.
DR DNASU; 84520; -.
DR Ensembl; ENST00000306954.5; ENSP00000306320.4; ENSG00000170270.5.
DR Ensembl; ENST00000621279.2; ENSP00000478863.1; ENSG00000275619.2.
DR GeneID; 84520; -.
DR KEGG; hsa:84520; -.
DR MANE-Select; ENST00000306954.5; ENSP00000306320.4; NM_032490.5; NP_115879.2.
DR UCSC; uc001ybl.2; human.
DR CTD; 84520; -.
DR DisGeNET; 84520; -.
DR GeneCards; GON7; -.
DR HGNC; HGNC:20356; GON7.
DR HPA; ENSG00000170270; Low tissue specificity.
DR MIM; 617436; gene.
DR MIM; 619603; phenotype.
DR neXtProt; NX_Q9BXV9; -.
DR OpenTargets; ENSG00000170270; -.
DR PharmGKB; PA134918457; -.
DR VEuPathDB; HostDB:ENSG00000170270; -.
DR eggNOG; ENOG502SW4V; Eukaryota.
DR GeneTree; ENSGT00490000044274; -.
DR HOGENOM; CLU_180906_0_0_1; -.
DR InParanoid; Q9BXV9; -.
DR OMA; PCEAPGD; -.
DR OrthoDB; 1418082at2759; -.
DR PhylomeDB; Q9BXV9; -.
DR PathwayCommons; Q9BXV9; -.
DR SignaLink; Q9BXV9; -.
DR BioGRID-ORCS; 84520; 17 hits in 1057 CRISPR screens.
DR ChiTaRS; GON7; human.
DR GenomeRNAi; 84520; -.
DR Pharos; Q9BXV9; Tdark.
DR PRO; PR:Q9BXV9; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9BXV9; protein.
DR Bgee; ENSG00000170270; Expressed in right uterine tube and 98 other tissues.
DR ExpressionAtlas; Q9BXV9; baseline and differential.
DR Genevisible; Q9BXV9; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0000408; C:EKC/KEOPS complex; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0002949; P:tRNA threonylcarbamoyladenosine modification; IDA:UniProtKB.
DR InterPro; IPR027893; GON7_meta.
DR PANTHER; PTHR37363; PTHR37363; 1.
DR Pfam; PF15387; DUF4611; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Disease variant; Epilepsy;
KW Intellectual disability; Nucleus; Reference proteome.
FT CHAIN 1..100
FT /note="EKC/KEOPS complex subunit GON7"
FT /id="PRO_0000089945"
FT REGION 61..100
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 66..80
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VARIANT 7..100
FT /note="Missing (in GAMOS9; slightly decreased formation of
FT tRNA threonylcarbamoyladenosine modification)"
FT /evidence="ECO:0000269|PubMed:31481669"
FT /id="VAR_085774"
FT STRAND 3..8
FT /evidence="ECO:0007829|PDB:6GWJ"
FT STRAND 14..19
FT /evidence="ECO:0007829|PDB:6GWJ"
FT STRAND 25..27
FT /evidence="ECO:0007829|PDB:6GWJ"
FT HELIX 29..48
FT /evidence="ECO:0007829|PDB:6GWJ"
SQ SEQUENCE 100 AA; 10859 MW; D00127AC90DE0793 CRC64;
MELLGEYVGQ EGKPQKLRVS CEAPGDGDPF QGLLSGVAQM KDMVTELFDP LVQGEVQHRV
AAAPDEDLDG DDEDDAEDEN NIDNRTNFDG PSAKRPKTPS
