Entry euk:ZN688_HUMAN

ID   ZN688_HUMAN             Reviewed;         276 AA.
AC   P0C7X2; A8MV39; B3KV51; O75701; Q8IW91; Q8WV14; Q96MN0;
DT   22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT   22-JUL-2008, sequence version 1.
DT   10-MAY-2017, entry version 80.
DE   RecName: Full=Zinc finger protein 688;
GN   Name=ZNF688;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Cerebellum;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=10493829; DOI=10.1006/geno.1999.5927;
RA   Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R.,
RA   Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L.,
RA   Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E.,
RA   Harris P.C., Venter J.C., Adams M.D.;
RT   "Genome duplications and other features in 12 Mb of DNA sequence from
RT   human chromosome 16p and 16q.";
RL   Genomics 60:295-308(1999).
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=B-cell, and 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   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-215 (ISOFORM 2).
RG   The MGC Project Team;
RL   Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: May be involved in transcriptional regulation.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=P0C7X2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P0C7X2-5; Sequence=VSP_046955;
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAC31673.1; Type=Erroneous gene model prediction; Note=The predicted gene has been split into 2 genes: ZNF688 and ZNF785.; Evidence={ECO:0000305};
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DR   EMBL; AK122680; BAG53663.1; -; mRNA.
DR   EMBL; AC002310; AAC31673.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; CH471192; EAW52233.1; -; Genomic_DNA.
DR   EMBL; CH471192; EAW52235.1; -; Genomic_DNA.
DR   EMBL; BC018997; AAH18997.1; -; mRNA.
DR   EMBL; BM011208; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS10684.1; -. [P0C7X2-1]
DR   CCDS; CCDS42151.1; -. [P0C7X2-5]
DR   RefSeq; NP_001019854.1; NM_001024683.1. [P0C7X2-5]
DR   RefSeq; NP_660314.1; NM_145271.3. [P0C7X2-1]
DR   UniGene; Hs.301463; -.
DR   UniGene; Hs.513509; -.
DR   UniGene; Hs.710991; -.
DR   ProteinModelPortal; P0C7X2; -.
DR   SMR; P0C7X2; -.
DR   BioGrid; 126996; 1.
DR   IntAct; P0C7X2; 4.
DR   STRING; 9606.ENSP00000223459; -.
DR   iPTMnet; P0C7X2; -.
DR   PhosphoSitePlus; P0C7X2; -.
DR   BioMuta; ZNF688; -.
DR   DMDM; 205636136; -.
DR   MaxQB; P0C7X2; -.
DR   PaxDb; P0C7X2; -.
DR   PeptideAtlas; P0C7X2; -.
DR   PRIDE; P0C7X2; -.
DR   DNASU; 146542; -.
DR   Ensembl; ENST00000223459; ENSP00000223459; ENSG00000229809. [P0C7X2-1]
DR   Ensembl; ENST00000563276; ENSP00000455227; ENSG00000229809. [P0C7X2-5]
DR   GeneID; 146542; -.
DR   KEGG; hsa:146542; -.
DR   UCSC; uc002dyt.4; human. [P0C7X2-1]
DR   CTD; 146542; -.
DR   GeneCards; ZNF688; -.
DR   HGNC; HGNC:30489; ZNF688.
DR   HPA; HPA048922; -.
DR   neXtProt; NX_P0C7X2; -.
DR   OpenTargets; ENSG00000229809; -.
DR   PharmGKB; PA142670487; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   eggNOG; COG5048; LUCA.
DR   GeneTree; ENSGT00560000077257; -.
DR   HOGENOM; HOG000234617; -.
DR   HOVERGEN; HBG018163; -.
DR   InParanoid; P0C7X2; -.
DR   KO; K09228; -.
DR   OMA; ELVKHNP; -.
DR   OrthoDB; EOG091G0P6J; -.
DR   PhylomeDB; P0C7X2; -.
DR   TreeFam; TF339643; -.
DR   Reactome; R-HSA-212436; Generic Transcription Pathway.
DR   GenomeRNAi; 146542; -.
DR   PRO; PR:P0C7X2; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   Bgee; ENSG00000229809; -.
DR   CleanEx; HS_ZNF688; -.
DR   ExpressionAtlas; P0C7X2; baseline and differential.
DR   Genevisible; P0C7X2; HS.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:UniProtKB-KW.
DR   GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR   CDD; cd07765; KRAB_A-box; 1.
DR   Gene3D; 3.30.40.10; -; 1.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR   Pfam; PF01352; KRAB; 1.
DR   SMART; SM00349; KRAB; 1.
DR   SMART; SM00355; ZnF_C2H2; 2.
DR   SUPFAM; SSF109640; SSF109640; 1.
DR   SUPFAM; SSF57667; SSF57667; 1.
DR   PROSITE; PS50805; KRAB; 1.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 2.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 2.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Complete proteome; DNA-binding; Metal-binding;
KW   Nucleus; Polymorphism; Reference proteome; Repeat; Transcription;
KW   Transcription regulation; Zinc; Zinc-finger.
FT   CHAIN         1    276       Zinc finger protein 688.
FT                                /FTId=PRO_0000234007.
FT   DOMAIN       26     97       KRAB. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00119}.
FT   ZN_FING     183    205       C2H2-type 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   ZN_FING     211    233       C2H2-type 2. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00042}.
FT   VAR_SEQ       1     65       MAPPPAPLLAPRPGETRPGCRKPGTVSFADVAVYFSPEEWG
FT                                CLRPAQRALYRDVMQETYGHLGAL -> MPRSPLRSSLSTE
FT                                ASGPRGPFKCPASPRPITAQLLPGSSPIIGRCVLRVQR
FT                                (in isoform 2). {ECO:0000303|Ref.5}.
FT                                /FTId=VSP_046955.
FT   VARIANT     131    131       S -> I (in dbSNP:rs33997546).
FT                                /FTId=VAR_052896.
FT   CONFLICT    153    153       P -> A (in Ref. 5; BM011208).
FT                                {ECO:0000305}.
FT   CONFLICT    193    193       T -> S (in Ref. 5; BM011208).
FT                                {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT       185    205       ipat:ZINC_FINGER_C2H2_1 [T]
FT   MYHIT       211    233       iprf:ZINC_FINGER_C2H2_2 [T]
FT   MYHIT        26     66       ipfam:KRAB [T]
FT   MYHIT       183    210       iprf:ZINC_FINGER_C2H2_2 [T]
FT   MYHIT       211    233       ismart:ZnF_C2H2 [T]
FT   MYHIT       183    205       ismart:ZnF_C2H2 [T]
FT   MYHIT       213    233       ipat:ZINC_FINGER_C2H2_1 [T]
FT   MYHIT        26     97       iprf:KRAB [T]
FT   MYHIT        26     86       ismart:KRAB [T]
SQ   SEQUENCE   276 AA;  30575 MW;  11D583A6D671CBFE CRC64;
     MAPPPAPLLA PRPGETRPGC RKPGTVSFAD VAVYFSPEEW GCLRPAQRAL YRDVMQETYG
     HLGALGFPGP KPALISWMEQ ESEAWSPAAQ DPEKGERLGG ARRGDVPNRK EEEPEEVPRA
     KGPRKAPVKE SPEVLVERNP DPAISVAPAR AQPPKNAAWD PTTGAQPPAP IPSMDAQAGQ
     RRHVCTDCGR RFTYPSLLVS HRRMHSGERP FPCPECGMRF KRKFAVEAHQ WIHRSCSGGR
     RGRRPGIRAV PRAPVRGDRD PPVLFRHYPD IFEECG
//