GenomeNet

Database: UniProt
Entry: Q9NQV8
LinkDB: Q9NQV8
Original site: Q9NQV8 
ID   PRDM8_HUMAN             Reviewed;         689 AA.
AC   Q9NQV8; A8K7X2; Q6IQ36;
DT   08-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT   04-NOV-2008, sequence version 3.
DT   13-FEB-2019, entry version 153.
DE   RecName: Full=PR domain zinc finger protein 8;
DE            EC=2.1.1.-;
DE   AltName: Full=PR domain-containing protein 8;
GN   Name=PRDM8; Synonyms=PFM5;
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 2).
RA   Yang X.-H., Huang S.;
RT   "A family of novel PR-domain (PRDM) genes as candidate tumor
RT   suppressors.";
RL   Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Synovium;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain;
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   SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH EPM2A AND
RP   NHLRC1, LACK OF HISTONE METHYLTRANSFERASE ACTIVITY, INVOLVEMENT IN
RP   EPM10, VARIANT EPM10 LEU-261, AND CHARACTERIZATION OF VARIANT EPM10
RP   LEU-261.
RX   PubMed=22961547; DOI=10.1093/brain/aws205;
RA   Turnbull J., Girard J.M., Lohi H., Chan E.M., Wang P., Tiberia E.,
RA   Omer S., Ahmed M., Bennett C., Chakrabarty A., Tyagi A., Liu Y.,
RA   Pencea N., Zhao X., Scherer S.W., Ackerley C.A., Minassian B.A.;
RT   "Early-onset Lafora body disease.";
RL   Brain 135:2684-2698(2012).
CC   -!- FUNCTION: Probable histone methyltransferase, preferentially
CC       acting on 'Lys-9' of histone H3 (By similarity). Involved in the
CC       control of steroidogenesis through transcriptional repression of
CC       steroidogenesis marker genes such as CYP17A1 and LHCGR (By
CC       similarity). Forms with BHLHE22 a transcriptional repressor
CC       complex controlling genes involved in neural development and
CC       neuronal differentiation (By similarity). In the retina, it is
CC       required for rod bipolar and type 2 OFF-cone bipolar cell survival
CC       (By similarity). {ECO:0000250|UniProtKB:Q8BZ97}.
CC   -!- SUBUNIT: Interacts with EPM2A and NHLRC1. This interaction
CC       sequesters EPM2A and NHLRC1 to the nucleus (PubMed:22961547).
CC       Interacts with BHLHE22 (By similarity).
CC       {ECO:0000250|UniProtKB:Q8BZ97, ECO:0000269|PubMed:22961547}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22961547}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9NQV8-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9NQV8-2; Sequence=VSP_035602, VSP_035603;
CC   -!- TISSUE SPECIFICITY: Expressed in brain, heart, skeletal muscle,
CC       testes, prostate. {ECO:0000269|PubMed:22961547}.
CC   -!- DISEASE: Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640]:
CC       A progressive myoclonus epilepsy characterized by progressive
CC       dysarthria, myoclonus, ataxia, cognitive decline, psychosis,
CC       dementia and spasticity, with onset in childhood. There is
CC       variability between patients. {ECO:0000269|PubMed:22961547}.
CC       Note=The disease is caused by mutations affecting the gene
CC       represented in this entry.
CC   -!- SIMILARITY: Belongs to the class V-like SAM-binding
CC       methyltransferase superfamily. {ECO:0000255|PROSITE-
CC       ProRule:PRU00190}.
CC   -!- CAUTION: In disagreement with experimental results in mouse,
CC       PubMed:22961547 reports lack of histone methyltransferase activity
CC       on core histones generally, and on histone H3 specifically.
CC       {ECO:0000269|PubMed:22961547}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAF87241.1; Type=Frameshift; Positions=287; Evidence={ECO:0000305};
DR   EMBL; AF275815; AAF87241.1; ALT_FRAME; mRNA.
DR   EMBL; AK292137; BAF84826.1; -; mRNA.
DR   EMBL; CH471057; EAX05851.1; -; Genomic_DNA.
DR   EMBL; BC071584; AAH71584.1; -; mRNA.
DR   CCDS; CCDS43243.1; -. [Q9NQV8-1]
DR   RefSeq; NP_001092873.1; NM_001099403.1. [Q9NQV8-1]
DR   RefSeq; NP_064611.3; NM_020226.3. [Q9NQV8-1]
DR   RefSeq; XP_005263203.1; XM_005263146.4. [Q9NQV8-1]
DR   UniGene; Hs.373642; -.
DR   ProteinModelPortal; Q9NQV8; -.
DR   SMR; Q9NQV8; -.
DR   BioGrid; 121296; 2.
DR   STRING; 9606.ENSP00000339764; -.
DR   iPTMnet; Q9NQV8; -.
DR   PhosphoSitePlus; Q9NQV8; -.
DR   BioMuta; PRDM8; -.
DR   DMDM; 212276495; -.
DR   jPOST; Q9NQV8; -.
DR   PaxDb; Q9NQV8; -.
DR   PeptideAtlas; Q9NQV8; -.
DR   PRIDE; Q9NQV8; -.
DR   ProteomicsDB; 82199; -.
DR   ProteomicsDB; 82200; -. [Q9NQV8-2]
DR   Ensembl; ENST00000339711; ENSP00000339764; ENSG00000152784. [Q9NQV8-1]
DR   Ensembl; ENST00000415738; ENSP00000406998; ENSG00000152784. [Q9NQV8-1]
DR   Ensembl; ENST00000504452; ENSP00000423985; ENSG00000152784. [Q9NQV8-1]
DR   GeneID; 56978; -.
DR   KEGG; hsa:56978; -.
DR   UCSC; uc003hmb.5; human. [Q9NQV8-1]
DR   CTD; 56978; -.
DR   DisGeNET; 56978; -.
DR   EuPathDB; HostDB:ENSG00000152784.15; -.
DR   GeneCards; PRDM8; -.
DR   HGNC; HGNC:13993; PRDM8.
DR   HPA; HPA057253; -.
DR   MalaCards; PRDM8; -.
DR   MIM; 616639; gene.
DR   MIM; 616640; phenotype.
DR   neXtProt; NX_Q9NQV8; -.
DR   OpenTargets; ENSG00000152784; -.
DR   Orphanet; 324290; Early-onset Lafora body disease.
DR   PharmGKB; PA33720; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   eggNOG; KOG2461; Eukaryota.
DR   eggNOG; COG5048; LUCA.
DR   GeneTree; ENSGT00890000139463; -.
DR   HOGENOM; HOG000060226; -.
DR   HOVERGEN; HBG053674; -.
DR   InParanoid; Q9NQV8; -.
DR   KO; K20797; -.
DR   OMA; FQFEFPF; -.
DR   OrthoDB; 1327331at2759; -.
DR   PhylomeDB; Q9NQV8; -.
DR   TreeFam; TF327090; -.
DR   GenomeRNAi; 56978; -.
DR   PRO; PR:Q9NQV8; -.
DR   Proteomes; UP000005640; Chromosome 4.
DR   Bgee; ENSG00000152784; Expressed in 92 organ(s), highest expression level in esophagus.
DR   ExpressionAtlas; Q9NQV8; baseline and differential.
DR   Genevisible; Q9NQV8; HS.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0008168; F:methyltransferase activity; IEA:UniProtKB-KW.
DR   GO; GO:0014003; P:oligodendrocyte development; IBA:GO_Central.
DR   InterPro; IPR001214; SET_dom.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   Pfam; PF00096; zf-C2H2; 1.
DR   SMART; SM00355; ZnF_C2H2; 3.
DR   SUPFAM; SSF57667; SSF57667; 1.
DR   PROSITE; PS50280; SET; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 2.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 2.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Disease mutation;
KW   DNA-binding; Epilepsy; Metal-binding; Methyltransferase; Neurogenesis;
KW   Nucleus; Reference proteome; Repeat; S-adenosyl-L-methionine;
KW   Transcription; Transcription regulation; Transferase; Zinc;
KW   Zinc-finger.
FT   CHAIN         1    689       PR domain zinc finger protein 8.
FT                                /FTId=PRO_0000047764.
FT   DOMAIN       16    131       SET. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00190}.
FT   ZN_FING     155    183       C2H2-type 1; atypical.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00042}.
FT   ZN_FING     625    648       C2H2-type 2. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     666    688       C2H2-type 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   COMPBIAS    137    140       Poly-Leu.
FT   COMPBIAS    194    491       Gly-rich.
FT   COMPBIAS    212    217       Poly-Gln.
FT   COMPBIAS    238    289       Ser-rich.
FT   COMPBIAS    565    568       Poly-Gly.
FT   COMPBIAS    578    598       Ala-rich.
FT   VAR_SEQ     332    334       GRG -> AAL (in isoform 2).
FT                                {ECO:0000303|Ref.1}.
FT                                /FTId=VSP_035602.
FT   VAR_SEQ     335    689       Missing (in isoform 2).
FT                                {ECO:0000303|Ref.1}.
FT                                /FTId=VSP_035603.
FT   VARIANT     261    261       F -> L (in EPM10; does not affect
FT                                interaction with EPM2A and NHLRC1;
FT                                dbSNP:rs863225286).
FT                                {ECO:0000269|PubMed:22961547}.
FT                                /FTId=VAR_075044.
FT   CONFLICT    323    323       G -> A (in Ref. 1; AAF87241).
FT                                {ECO:0000305}.
FT   CONFLICT    354    354       Q -> R (in Ref. 4; AAH71584).
FT                                {ECO:0000305}.
FT   CONFLICT    640    640       L -> M (in Ref. 4; AAH71584).
FT                                {ECO:0000305}.
SQ   SEQUENCE   689 AA;  71663 MW;  4D8E3EA8B463682A CRC64;
     MEDTGIQRGI WDGDAKAVQQ CLTDIFTSVY TTCDIPENAI FGPCVLSHTS LYDSIAFIAL
     KSTDKRTVPY IFRVDTSAAN GSSEGLMWLR LVQSARDKEE QNLEAYIKNG QLFYRSLRRI
     AKDEELLVWY GKELTELLLL CPSRSHNKMN GSSPYTCLEC SQRFQFEFPY VAHLRFRCPK
     RLHSADISPQ DEQGGGVGTK DHGGGGGGGK DQQQQQQEAP LGPGPKFCKA GPLHHYPSPS
     PESSNPSAAA GGSSAKPSTD FHNLARELEN SRGGSSCSPA QSLSSGSGSG GGGGHQEAEL
     SPDGIATGGG KGKRKFPEEA AEGGGGAGLV GGRGRFVERP LPASKEDLVC TPQQYRASGS
     YFGLEENGRL FAPPSPETGE AKRSAFVEVK KAARAASLQE EGTADGAGVA SEDQDAGGGG
     GSSTPAAASP VGAEKLLAPR PGGPLPSRLE GGSPARGSAF TSVPQLGSAG STSGGGGTGA
     GAAGGAGGGQ GAASDERKSA FSQPARSFSQ LSPLVLGQKL GALEPCHPAD GVGPTRLYPA
     AADPLAVKLQ GAADLNGGCG SLPSGGGGLP KQSPFLYATA FWPKSSAAAA AAAAAAAAGP
     LQLQLPSALT LLPPSFTSLC LPAQNWCAKC NASFRMTSDL VYHMRSHHKK EYAMEPLVKR
     RREEKLKCPI CNESFRERHH LSRHMTSHN
//
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