ZSC9_HUMAN
ID ZSC9_HUMAN Reviewed; 394 AA.
AC O15535; B4E1W6; E7EVQ2; Q2TTR1;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 199.
DE RecName: Full=Zinc finger and SCAN domain-containing protein 9;
DE AltName: Full=Cell proliferation-inducing gene 12 protein;
DE AltName: Full=PRD51;
DE AltName: Full=Zinc finger protein 193;
GN Name=ZSCAN9; Synonyms=ZNF193; ORFNames=PIG12;
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 [GENOMIC DNA / MRNA] (ISOFORM 1).
RC TISSUE=Duodenum;
RX PubMed=9244436; DOI=10.1006/geno.1997.4806;
RA Lee P.L., Gelbart T., West C., Adams M., Blackstone R., Beutler E.;
RT "Three genes encoding zinc finger proteins on human chromosome 6p21.3:
RT members of a new subclass of the Kruppel gene family containing the
RT conserved SCAN box domain.";
RL Genomics 43:191-201(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Trachea;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 MRNA] (ISOFORM 1).
RA Kim J.W.;
RT "Identification of a human cell proliferation inducing gene.";
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
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 [7]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-26; LYS-215 AND LYS-238, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [8]
RP VARIANT ARG-254.
RX PubMed=24658003; DOI=10.1038/ng.2929;
RA Gomez-Herreros F., Schuurs-Hoeijmakers J.H., McCormack M., Greally M.T.,
RA Rulten S., Romero-Granados R., Counihan T.J., Chaila E., Conroy J.,
RA Ennis S., Delanty N., Cortes-Ledesma F., de Brouwer A.P., Cavalleri G.L.,
RA El-Khamisy S.F., de Vries B.B., Caldecott K.W.;
RT "TDP2 protects transcription from abortive topoisomerase activity and is
RT required for normal neural function.";
RL Nat. Genet. 46:516-521(2014).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC O15535; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-751531, EBI-8643161;
CC O15535; Q96EF6: FBXO17; NbExp=3; IntAct=EBI-751531, EBI-2510157;
CC O15535; Q14192: FHL2; NbExp=3; IntAct=EBI-751531, EBI-701903;
CC O15535; P55040: GEM; NbExp=3; IntAct=EBI-751531, EBI-744104;
CC O15535; P14136: GFAP; NbExp=3; IntAct=EBI-751531, EBI-744302;
CC O15535; P28799: GRN; NbExp=3; IntAct=EBI-751531, EBI-747754;
CC O15535; O43464: HTRA2; NbExp=3; IntAct=EBI-751531, EBI-517086;
CC O15535; P42858: HTT; NbExp=9; IntAct=EBI-751531, EBI-466029;
CC O15535; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-751531, EBI-1055254;
CC O15535; Q92993: KAT5; NbExp=3; IntAct=EBI-751531, EBI-399080;
CC O15535; O60333-2: KIF1B; NbExp=3; IntAct=EBI-751531, EBI-10975473;
CC O15535; Q8TAP4-4: LMO3; NbExp=6; IntAct=EBI-751531, EBI-11742507;
CC O15535; Q9H213: MAGEH1; NbExp=3; IntAct=EBI-751531, EBI-473834;
CC O15535; P07196: NEFL; NbExp=3; IntAct=EBI-751531, EBI-475646;
CC O15535; P62937-2: PPIA; NbExp=3; IntAct=EBI-751531, EBI-25884072;
CC O15535; P17252: PRKCA; NbExp=3; IntAct=EBI-751531, EBI-1383528;
CC O15535; P60891: PRPS1; NbExp=3; IntAct=EBI-751531, EBI-749195;
CC O15535; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-751531, EBI-9090795;
CC O15535; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-751531, EBI-5235340;
CC O15535; P78362: SRPK2; NbExp=6; IntAct=EBI-751531, EBI-593303;
CC O15535; O76024: WFS1; NbExp=3; IntAct=EBI-751531, EBI-720609;
CC O15535; P61981: YWHAG; NbExp=3; IntAct=EBI-751531, EBI-359832;
CC O15535; Q9NWS9: ZNF446; NbExp=3; IntAct=EBI-751531, EBI-3925851;
CC O15535; Q9NWS9-2: ZNF446; NbExp=9; IntAct=EBI-751531, EBI-740232;
CC O15535; P10073: ZSCAN22; NbExp=3; IntAct=EBI-751531, EBI-10178224;
CC O15535; Q3MJ62: ZSCAN23; NbExp=3; IntAct=EBI-751531, EBI-5667532;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00187}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O15535-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O15535-2; Sequence=VSP_044798;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; U62392; AAC51659.1; -; mRNA.
DR EMBL; U88082; AAC51661.1; -; Genomic_DNA.
DR EMBL; U88081; AAC51661.1; JOINED; Genomic_DNA.
DR EMBL; AK304013; BAG64928.1; -; mRNA.
DR EMBL; AY550973; AAT52219.1; -; mRNA.
DR EMBL; AL022393; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03140.1; -; Genomic_DNA.
DR EMBL; BC010374; AAH10374.1; -; mRNA.
DR CCDS; CCDS4646.1; -. [O15535-1]
DR CCDS; CCDS56407.1; -. [O15535-2]
DR RefSeq; NP_001186408.1; NM_001199479.1. [O15535-2]
DR RefSeq; NP_001186409.1; NM_001199480.1. [O15535-1]
DR RefSeq; NP_006290.1; NM_006299.4. [O15535-1]
DR RefSeq; XP_016866756.1; XM_017011267.1. [O15535-1]
DR AlphaFoldDB; O15535; -.
DR SMR; O15535; -.
DR BioGRID; 113530; 19.
DR IntAct; O15535; 29.
DR MINT; O15535; -.
DR iPTMnet; O15535; -.
DR PhosphoSitePlus; O15535; -.
DR BioMuta; ZSCAN9; -.
DR MassIVE; O15535; -.
DR MaxQB; O15535; -.
DR PeptideAtlas; O15535; -.
DR PRIDE; O15535; -.
DR ProteomicsDB; 18685; -.
DR ProteomicsDB; 48744; -. [O15535-1]
DR Antibodypedia; 25843; 160 antibodies from 20 providers.
DR DNASU; 7746; -.
DR Ensembl; ENST00000252207.10; ENSP00000252207.5; ENSG00000137185.13. [O15535-1]
DR Ensembl; ENST00000425468.6; ENSP00000404074.2; ENSG00000137185.13. [O15535-2]
DR Ensembl; ENST00000531979.5; ENSP00000433402.1; ENSG00000137185.13. [O15535-1]
DR GeneID; 7746; -.
DR KEGG; hsa:7746; -.
DR MANE-Select; ENST00000252207.10; ENSP00000252207.5; NM_006299.5; NP_006290.1.
DR UCSC; uc003nkq.3; human. [O15535-1]
DR CTD; 7746; -.
DR DisGeNET; 7746; -.
DR GeneCards; ZSCAN9; -.
DR HGNC; HGNC:12984; ZSCAN9.
DR HPA; ENSG00000137185; Low tissue specificity.
DR MIM; 602246; gene.
DR neXtProt; NX_O15535; -.
DR OpenTargets; ENSG00000137185; -.
DR PharmGKB; PA37564; -.
DR VEuPathDB; HostDB:ENSG00000137185; -.
DR GeneTree; ENSGT00940000163521; -.
DR HOGENOM; CLU_002678_49_3_1; -.
DR InParanoid; O15535; -.
DR OMA; DEMTKTE; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; O15535; -.
DR TreeFam; TF338304; -.
DR PathwayCommons; O15535; -.
DR SignaLink; O15535; -.
DR BioGRID-ORCS; 7746; 5 hits in 1097 CRISPR screens.
DR GeneWiki; ZNF193; -.
DR GenomeRNAi; 7746; -.
DR Pharos; O15535; Tdark.
DR PRO; PR:O15535; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O15535; protein.
DR Bgee; ENSG00000137185; Expressed in ganglionic eminence and 128 other tissues.
DR ExpressionAtlas; O15535; baseline and differential.
DR Genevisible; O15535; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd07936; SCAN; 1.
DR Gene3D; 1.10.4020.10; -; 1.
DR InterPro; IPR003309; SCAN_dom.
DR InterPro; IPR038269; SCAN_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF02023; SCAN; 1.
DR Pfam; PF00096; zf-C2H2; 5.
DR SMART; SM00431; SCAN; 1.
DR SMART; SM00355; ZnF_C2H2; 5.
DR SUPFAM; SSF57667; SSF57667; 3.
DR PROSITE; PS50804; SCAN_BOX; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 5.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 5.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..394
FT /note="Zinc finger and SCAN domain-containing protein 9"
FT /id="PRO_0000047446"
FT DOMAIN 52..134
FT /note="SCAN box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00187"
FT ZN_FING 254..276
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 282..304
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 310..332
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 338..360
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 366..388
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT CROSSLNK 26
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 215
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 238
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 189
FT /note="T -> TDLIRSLRRRAVLIPLGAHLFSTDTFLFSKPVVIPQLKGGGETWPNN
FT RGVLR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044798"
FT VARIANT 254
FT /note="H -> R (in dbSNP:rs148219046)"
FT /evidence="ECO:0000269|PubMed:24658003"
FT /id="VAR_076868"
FT CONFLICT 7
FT /note="E -> G (in Ref. 2; BAG64928)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 394 AA; 45954 MW; 4CEC2BBC3E39EA40 CRC64;
MNTNSKEVLS LGVQVPEAWE ELLTMKVEAK SHLQWQESRL KRSNPLAREI FRRHFRQLCY
QETPGPREAL TRLQELCYQW LRPHVSTKEQ ILDLLVLEQF LSILPKELQG WVREHCPESG
EEAVILLEDL ERELDEPQHE MVAHRHRQEV LCKEMVPLAE QTPLTLQSQP KEPQLTCDSA
QKCHSIGETD EVTKTEDREL VLRKDCPKIV EPHGKMFNEQ TWEVSQQDPS HGEVGEHKDR
IERQWGNLLG EGQHKCDECG KSFTQSSGLI RHQRIHTGER PYECNECGKA FSRSSGLFNH
RGIHNIQKRY HCKECGKVFS QSAGLIQHQR IHKGEKPYQC SQCSKSYSRR SFLIEHQRSH
TGERPHQCIE CGKSFNRHCN LIRHQKIHTV AELV
