SETD9_HUMAN
ID SETD9_HUMAN Reviewed; 299 AA.
AC Q8NE22; F5H713;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=SET domain-containing protein 9;
DE EC=2.1.1.-;
GN Name=SETD9; Synonyms=C5orf35;
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 GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-76.
RC TISSUE=Testis;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NE22-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NE22-2; Sequence=VSP_043790, VSP_043791;
CC -!- SIMILARITY: Belongs to the class V-like SAM-binding methyltransferase
CC superfamily. {ECO:0000255|PROSITE-ProRule:PRU00190}.
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DR EMBL; AC008937; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036528; AAH36528.1; -; mRNA.
DR CCDS; CCDS3972.1; -. [Q8NE22-1]
DR RefSeq; NP_001165461.1; NM_001171990.2. [Q8NE22-2]
DR RefSeq; NP_714917.2; NM_153706.3. [Q8NE22-1]
DR AlphaFoldDB; Q8NE22; -.
DR BioGRID; 126356; 6.
DR IntAct; Q8NE22; 4.
DR STRING; 9606.ENSP00000285947; -.
DR iPTMnet; Q8NE22; -.
DR PhosphoSitePlus; Q8NE22; -.
DR BioMuta; SETD9; -.
DR DMDM; 296434439; -.
DR EPD; Q8NE22; -.
DR jPOST; Q8NE22; -.
DR MassIVE; Q8NE22; -.
DR MaxQB; Q8NE22; -.
DR PaxDb; Q8NE22; -.
DR PeptideAtlas; Q8NE22; -.
DR PRIDE; Q8NE22; -.
DR ProteomicsDB; 73116; -. [Q8NE22-1]
DR ProteomicsDB; 73117; -. [Q8NE22-2]
DR Antibodypedia; 54936; 115 antibodies from 15 providers.
DR DNASU; 133383; -.
DR Ensembl; ENST00000285947.5; ENSP00000285947.2; ENSG00000155542.12. [Q8NE22-1]
DR Ensembl; ENST00000628593.1; ENSP00000486609.1; ENSG00000155542.12. [Q8NE22-2]
DR GeneID; 133383; -.
DR KEGG; hsa:133383; -.
DR MANE-Select; ENST00000285947.5; ENSP00000285947.2; NM_153706.4; NP_714917.2.
DR UCSC; uc003jqx.4; human. [Q8NE22-1]
DR CTD; 133383; -.
DR DisGeNET; 133383; -.
DR GeneCards; SETD9; -.
DR HGNC; HGNC:28508; SETD9.
DR HPA; ENSG00000155542; Tissue enhanced (testis).
DR neXtProt; NX_Q8NE22; -.
DR OpenTargets; ENSG00000155542; -.
DR PharmGKB; PA162380099; -.
DR VEuPathDB; HostDB:ENSG00000155542; -.
DR eggNOG; ENOG502QVIC; Eukaryota.
DR GeneTree; ENSGT00390000001437; -.
DR HOGENOM; CLU_930547_0_0_1; -.
DR InParanoid; Q8NE22; -.
DR OMA; PWVVFNL; -.
DR OrthoDB; 808187at2759; -.
DR PhylomeDB; Q8NE22; -.
DR TreeFam; TF314670; -.
DR PathwayCommons; Q8NE22; -.
DR Reactome; R-HSA-6804760; Regulation of TP53 Activity through Methylation.
DR SignaLink; Q8NE22; -.
DR BioGRID-ORCS; 133383; 9 hits in 1079 CRISPR screens.
DR ChiTaRS; SETD9; human.
DR GenomeRNAi; 133383; -.
DR Pharos; Q8NE22; Tdark.
DR PRO; PR:Q8NE22; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8NE22; protein.
DR Bgee; ENSG00000155542; Expressed in sperm and 149 other tissues.
DR ExpressionAtlas; Q8NE22; baseline and differential.
DR Genevisible; Q8NE22; HS.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0016278; F:lysine N-methyltransferase activity; TAS:Reactome.
DR GO; GO:0032259; P:methylation; IEA:UniProtKB-KW.
DR GO; GO:1901796; P:regulation of signal transduction by p53 class mediator; TAS:Reactome.
DR Gene3D; 2.170.270.10; -; 1.
DR InterPro; IPR001214; SET_dom.
DR InterPro; IPR046341; SET_dom_sf.
DR InterPro; IPR040415; SETD9.
DR PANTHER; PTHR33524; PTHR33524; 1.
DR SUPFAM; SSF82199; SSF82199; 1.
DR PROSITE; PS50280; SET; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Methyltransferase; Reference proteome;
KW S-adenosyl-L-methionine; Transferase.
FT CHAIN 1..299
FT /note="SET domain-containing protein 9"
FT /id="PRO_0000300496"
FT DOMAIN 122..295
FT /note="SET"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00190"
FT BINDING 294
FT /ligand="S-adenosyl-L-methionine"
FT /ligand_id="ChEBI:CHEBI:59789"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00190"
FT VAR_SEQ 271
FT /note="S -> R (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_043790"
FT VAR_SEQ 272..299
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_043791"
FT VARIANT 76
FT /note="S -> T (in dbSNP:rs2257505)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034875"
FT VARIANT 209
FT /note="K -> E (in dbSNP:rs40497)"
FT /id="VAR_034876"
FT CONFLICT 100
FT /note="L -> R (in Ref. 2; AAH36528)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 299 AA; 34095 MW; 0CF616C68EDF2DC8 CRC64;
MPGRLLRGLW QRWRRYKYRF VPWIALNLSH NPRTLRYVPE ESKDKVISDE DVLGTLLKVF
QALFLNDFNK QSEILSMLPE SVKSKYQDLL AVEHQGVKLL ENRHQQQSTF KPEEILYKTL
GFSVAQATSS LISAGKGVFV TKGLVPKGAV VSMYPGTVYQ KYEPIFFQSI GNPFIFRCLD
GVLIDGNDKG ISKVVYRSCN GRDRLGPLKM SDSTWLTSEI HNPLAVGQYV NNCSNDRAAN
VCYQEFDVPA VFPIELKQYL PNIAYSYDKQ SPLRCVVLVA LRDINQGEEL FSNYYTIVS
