GenomeNet

Database: UniProt
Entry: Q9NQW5
LinkDB: Q9NQW5
Original site: Q9NQW5 
ID   PRDM7_HUMAN             Reviewed;         492 AA.
AC   Q9NQW5; A4Q9G8; Q08EM4; Q9NQW4;
DT   16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT   10-FEB-2009, sequence version 2.
DT   13-FEB-2019, entry version 150.
DE   RecName: Full=Probable histone-lysine N-methyltransferase PRDM7;
DE            EC=2.1.1.43;
DE   AltName: Full=PR domain zinc finger protein 7;
DE   AltName: Full=PR domain-containing protein 7;
GN   Name=PRDM7; Synonyms=PFM4;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT GLU-90.
RX   PubMed=17916234; DOI=10.1186/1471-2148-7-187;
RA   Fumasoni I., Meani N., Rambaldi D., Scafetta G., Alcalay M.,
RA   Ciccarelli F.D.;
RT   "Family expansion and gene rearrangements contributed to the
RT   functional specialization of PRDM genes in vertebrates.";
RL   BMC Evol. Biol. 7:187-187(2007).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3).
RX   PubMed=10668202;
RA   Jiang G.L., Huang S.;
RT   "The yin-yang of PR-domain family genes in tumorigenesis.";
RL   Histol. Histopathol. 15:109-117(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX   PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA   Hillman R.T., Green R.E., Brenner S.E.;
RT   "An unappreciated role for RNA surveillance.";
RL   Genome Biol. 5:R8.1-R8.16(2004).
CC   -!- FUNCTION: Probable histone methyltransferase. {ECO:0000250}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=L-lysyl-[histone] + S-adenosyl-L-methionine = H(+) +
CC         N(6)-methyl-L-lysyl-[histone] + S-adenosyl-L-homocysteine;
CC         Xref=Rhea:RHEA:10024, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:9846,
CC         ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856,
CC         ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.43;
CC   -!- INTERACTION:
CC       Q13077:TRAF1; NbExp=3; IntAct=EBI-10312471, EBI-359224;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome
CC       {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9NQW5-3; Sequence=Displayed;
CC       Name=2; Synonyms=B;
CC         IsoId=Q9NQW5-2; Sequence=VSP_036349, VSP_006930, VSP_006931;
CC       Name=3; Synonyms=A;
CC         IsoId=Q9NQW5-1; Sequence=VSP_036349, VSP_036350;
CC         Note=May be produced at very low levels due to a premature stop
CC         codon in the mRNA, leading to nonsense-mediated mRNA decay.;
CC   -!- MISCELLANEOUS: The mouse orthologous protein seems not to exist.
CC       According to PubMed:17916234, human PRDM7 and PRDM9 genes, a pair
CC       of close paralogs corresponding to a single mouse gene Prdm9, were
CC       generated by a recent gene duplication event after the divergence
CC       of the ancestors of human and mouse.
DR   EMBL; AM690991; CAM84449.1; -; mRNA.
DR   EMBL; AF274347; AAF78084.1; -; mRNA.
DR   EMBL; AF274348; AAF78085.1; -; mRNA.
DR   EMBL; CH471184; EAW66654.1; -; Genomic_DNA.
DR   EMBL; BC107033; AAI07034.1; -; mRNA.
DR   CCDS; CCDS45557.1; -. [Q9NQW5-3]
DR   RefSeq; NP_001091643.1; NM_001098173.1. [Q9NQW5-3]
DR   RefSeq; XP_005256331.1; XM_005256274.3. [Q9NQW5-3]
DR   UniGene; Hs.406695; -.
DR   ProteinModelPortal; Q9NQW5; -.
DR   SMR; Q9NQW5; -.
DR   BioGrid; 116286; 1.
DR   IntAct; Q9NQW5; 3.
DR   STRING; 9606.ENSP00000396732; -.
DR   iPTMnet; Q9NQW5; -.
DR   PhosphoSitePlus; Q9NQW5; -.
DR   BioMuta; PRDM7; -.
DR   DMDM; 223590134; -.
DR   jPOST; Q9NQW5; -.
DR   PaxDb; Q9NQW5; -.
DR   PeptideAtlas; Q9NQW5; -.
DR   PRIDE; Q9NQW5; -.
DR   ProteomicsDB; 82206; -.
DR   ProteomicsDB; 82207; -. [Q9NQW5-1]
DR   ProteomicsDB; 82208; -. [Q9NQW5-2]
DR   Ensembl; ENST00000449207; ENSP00000396732; ENSG00000126856. [Q9NQW5-3]
DR   Ensembl; ENST00000643008; ENSP00000496449; ENSG00000126856. [Q9NQW5-3]
DR   GeneID; 11105; -.
DR   KEGG; hsa:11105; -.
DR   UCSC; uc010cje.4; human. [Q9NQW5-3]
DR   CTD; 11105; -.
DR   EuPathDB; HostDB:ENSG00000126856.13; -.
DR   GeneCards; PRDM7; -.
DR   HGNC; HGNC:9351; PRDM7.
DR   HPA; HPA059555; -.
DR   HPA; HPA059944; -.
DR   MIM; 609759; gene.
DR   neXtProt; NX_Q9NQW5; -.
DR   OpenTargets; ENSG00000126856; -.
DR   PharmGKB; PA33719; -.
DR   eggNOG; KOG2461; Eukaryota.
DR   eggNOG; ENOG410ZFVU; LUCA.
DR   GeneTree; ENSGT00940000158211; -.
DR   HOGENOM; HOG000115687; -.
DR   InParanoid; Q9NQW5; -.
DR   KO; K20796; -.
DR   OMA; MARNWAS; -.
DR   OrthoDB; 1318335at2759; -.
DR   PhylomeDB; Q9NQW5; -.
DR   TreeFam; TF337915; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   GenomeRNAi; 11105; -.
DR   PRO; PR:Q9NQW5; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   Bgee; ENSG00000126856; Expressed in 41 organ(s), highest expression level in amniotic fluid.
DR   ExpressionAtlas; Q9NQW5; baseline and differential.
DR   GO; GO:0005694; C:chromosome; IEA:UniProtKB-SubCell.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0031490; F:chromatin DNA binding; IBA:GO_Central.
DR   GO; GO:0003700; F:DNA-binding transcription factor activity; IBA:GO_Central.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; NAS:NTNU_SB.
DR   GO; GO:0042800; F:histone methyltransferase activity (H3-K4 specific); IBA:GO_Central.
DR   GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0010845; P:positive regulation of reciprocal meiotic recombination; IBA:GO_Central.
DR   CDD; cd07765; KRAB_A-box; 1.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR003655; Krueppel-associated_box-rel.
DR   InterPro; IPR001214; SET_dom.
DR   InterPro; IPR019041; SSXRD_motif.
DR   Pfam; PF01352; KRAB; 1.
DR   Pfam; PF09514; SSXRD; 1.
DR   SMART; SM00349; KRAB; 1.
DR   SUPFAM; SSF109640; SSF109640; 1.
DR   PROSITE; PS50806; KRAB_RELATED; 1.
DR   PROSITE; PS50280; SET; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Chromatin regulator; Chromosome;
KW   Complete proteome; Methyltransferase; Nucleus; Polymorphism;
KW   Reference proteome; S-adenosyl-L-methionine; Transferase.
FT   CHAIN         1    492       Probable histone-lysine N-
FT                                methyltransferase PRDM7.
FT                                /FTId=PRO_0000047763.
FT   DOMAIN       23     86       KRAB-related. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00120}.
FT   DOMAIN      244    358       SET. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00190}.
FT   VAR_SEQ       1    206       Missing (in isoform 2 and isoform 3).
FT                                {ECO:0000303|PubMed:10668202,
FT                                ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_036349.
FT   VAR_SEQ     318    377       YVNCARDDEEQNLVAFQYHRQIFYRTCRVIRPGCELLVWSG
FT                                DEYGQELGIRSSIEPAESL -> TKARDPSMSLMLSGLFKS
FT                                KISQSTCGTQSLLSELPRTICKKTSPTRESLPRGSESGAAI
FT                                F (in isoform 2).
FT                                {ECO:0000303|PubMed:10668202,
FT                                ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_006930.
FT   VAR_SEQ     368    492       RSSIEPAESLGQAVNCWSGMGMSMARNWASSGAASGRKSSW
FT                                QGENQSQRSIHVPHAVWPFQVKNFSVNMWNAITPLRTSQDH
FT                                LQENFSNQRIPAQGIRIRSGNILIHAAVMTKPKVKRSKKGP
FT                                NS -> KWGSKWKKELMAGREPKPEIHPCPSCCLAFSSQKF
FT                                LSQHVERNHSSQNFPGPSARKLLQPENPCPGDQNQERQYSD
FT                                PRCCNDKTKGQEIKERSKLLNKRTWQREISRAFSSPPKGQM
FT                                GSSRVGERMMEEESRTGQKVNPGNTGKLFVGVGISRIAKVK
FT                                YGECGQGFSDKSDVITHQRTHTGGKPYVCRECGEGFSRKSD
FT                                LLSHQRTHTGEKPYVCRECERGFSRKSVLLIHQRTHRGEAP
FT                                VCRKDE (in isoform 3).
FT                                {ECO:0000303|PubMed:10668202}.
FT                                /FTId=VSP_036350.
FT   VAR_SEQ     378    492       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:10668202,
FT                                ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_006931.
FT   VARIANT      90     90       D -> E (in dbSNP:rs12925933).
FT                                {ECO:0000269|PubMed:17916234}.
FT                                /FTId=VAR_057461.
FT   VARIANT     131    131       R -> K (in dbSNP:rs2078478).
FT                                /FTId=VAR_057462.
FT   VARIANT     435    435       N -> K (in dbSNP:rs7206111).
FT                                /FTId=VAR_057463.
FT   CONFLICT    357    357       S -> Y (in Ref. 2; AAF78084).
FT                                {ECO:0000305}.
SQ   SEQUENCE   492 AA;  55777 MW;  0C80D8DE8BA65DC5 CRC64;
     MSPERSQEES PEGDTERTER KPMVKDAFKD ISIYFTKEEW AEMGDWEKTR YRNVKMNYNA
     LITVGLRATR PAFMCHRRQA IKLQVDDTED SDEEWTPRQQ VKPPWMAFRG EQSKHQKGMP
     KASFNNESSL RELSGTPNLL NTSDSEQAQK PVSPPGEAST SGQHSRLKLE LRRKETEGKM
     YSLRERKGHA YKEISEPQDD DYLYCEMCQN FFIDSCAAHG PPTFVKDSAV DKGHPNRSAL
     SLPPGLRIGP SGIPQAGLGV WNEASDLPLG LHFGPYEGRI TEDEEAANSG YSWLITKGRN
     CYEYVDGKDK SSANWMRYVN CARDDEEQNL VAFQYHRQIF YRTCRVIRPG CELLVWSGDE
     YGQELGIRSS IEPAESLGQA VNCWSGMGMS MARNWASSGA ASGRKSSWQG ENQSQRSIHV
     PHAVWPFQVK NFSVNMWNAI TPLRTSQDHL QENFSNQRIP AQGIRIRSGN ILIHAAVMTK
     PKVKRSKKGP NS
//
DBGET integrated database retrieval system