ZN799_HUMAN
ID ZN799_HUMAN Reviewed; 643 AA.
AC Q96GE5;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 4.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=Zinc finger protein 799;
DE AltName: Full=Zinc finger protein 842;
GN Name=ZNF799; Synonyms=ZNF842;
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 MRNA] (ISOFORM 2).
RC TISSUE=Lymph;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 277-643 (ISOFORM 1/2).
RC TISSUE=Uterus;
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 -!- 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=Q96GE5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96GE5-2; Sequence=VSP_039164;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AL832890; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC008758; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009517; AAH09517.1; -; mRNA.
DR CCDS; CCDS45989.1; -. [Q96GE5-1]
DR RefSeq; NP_001074290.1; NM_001080821.2. [Q96GE5-1]
DR AlphaFoldDB; Q96GE5; -.
DR SMR; Q96GE5; -.
DR BioGRID; 124735; 2.
DR STRING; 9606.ENSP00000411084; -.
DR iPTMnet; Q96GE5; -.
DR PhosphoSitePlus; Q96GE5; -.
DR BioMuta; ZNF799; -.
DR DMDM; 296453084; -.
DR jPOST; Q96GE5; -.
DR MassIVE; Q96GE5; -.
DR MaxQB; Q96GE5; -.
DR PaxDb; Q96GE5; -.
DR PeptideAtlas; Q96GE5; -.
DR PRIDE; Q96GE5; -.
DR ProteomicsDB; 76625; -. [Q96GE5-1]
DR ProteomicsDB; 76626; -. [Q96GE5-2]
DR Antibodypedia; 35105; 44 antibodies from 11 providers.
DR DNASU; 90576; -.
DR Ensembl; ENST00000430385.3; ENSP00000411084.2; ENSG00000196466.10. [Q96GE5-1]
DR GeneID; 90576; -.
DR KEGG; hsa:90576; -.
DR MANE-Select; ENST00000430385.3; ENSP00000411084.2; NM_001080821.3; NP_001074290.1.
DR UCSC; uc010dyt.4; human. [Q96GE5-1]
DR CTD; 90576; -.
DR GeneCards; ZNF799; -.
DR HGNC; HGNC:28071; ZNF799.
DR HPA; ENSG00000196466; Low tissue specificity.
DR neXtProt; NX_Q96GE5; -.
DR OpenTargets; ENSG00000196466; -.
DR PharmGKB; PA162410569; -.
DR VEuPathDB; HostDB:ENSG00000196466; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00950000182755; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q96GE5; -.
DR OMA; CESSMCE; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q96GE5; -.
DR TreeFam; TF338854; -.
DR PathwayCommons; Q96GE5; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q96GE5; -.
DR BioGRID-ORCS; 90576; 6 hits in 1024 CRISPR screens.
DR ChiTaRS; ZNF799; human.
DR GenomeRNAi; 90576; -.
DR Pharos; Q96GE5; Tdark.
DR PRO; PR:Q96GE5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96GE5; protein.
DR Bgee; ENSG00000196466; Expressed in endometrium and 98 other tissues.
DR ExpressionAtlas; Q96GE5; baseline and differential.
DR Genevisible; Q96GE5; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF00096; zf-C2H2; 8.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 18.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 10.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 15.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 18.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..643
FT /note="Zinc finger protein 799"
FT /id="PRO_0000271017"
FT DOMAIN 4..86
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 134..163
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 169..191
FT /note="C2H2-type 2; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 197..219
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 225..247
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 253..275
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 281..303
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 309..331
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 337..359
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 365..387
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 393..415
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 421..443
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 449..470
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 476..498
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 504..526
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 532..554
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 560..582
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 588..615
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 621..643
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VAR_SEQ 1
FT /note="M -> MDQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_039164"
FT VARIANT 44
FT /note="G -> V (in dbSNP:rs1134387)"
FT /id="VAR_029846"
FT VARIANT 593
FT /note="C -> R (in dbSNP:rs8112445)"
FT /id="VAR_029847"
FT CONFLICT 252
FT /note="L -> P (in Ref. 1; AL832890)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 643 AA; 74288 MW; D15435746A10855C CRC64;
MASVALEDVA VNFTREEWAL LGPCQKNLYK DVMQETIRNL DCVGMKWKDQ NIEDQYRYPR
KNLRCRMLER FVESKDGTQC GETSSQIQDS IVTKNTLPGV GPYESRMSGE VIMGHSSLNC
YIRVGAGHKP YEYHECGEKP DTHKQRGKAF SYHNSLQTHE RLHTGKKPYN CKECGKSFSS
LGNLQRHMAV QRGDGPYKCK LCGKAFFWPS LLHMHERTHT GEKPYECKQC SKAFSFYSSY
LRHERTHTGE KLYECKQCSK AFPDYSSCLR HERTHTGKKP YTCKQCGKAF SASTSLRRHE
TTHTDEKPYA CQQCGKAFHH LGSFQRHMVM HTRDGPHKCK ICGKGFDCPS SLKSHERTHT
GEKLYECKQC GKALSHSSSF RRHMTMHTGD GPHKCKICGK AFVYPSVFQR HEKTHTAEKP
YKCKQCGKAY RISSSLRRHE TTHTGEKPYK CKCGKAFIDF YSFQNHKTTH AGEKPYECKE
CGKAFSCFQY LSQHRRTHTG EKPYECNTCK KAFSHFGNLK VHERIHSGEK PYECKECGKA
FSWLTCFLRH ERIHMREKPY ECQQCGKAFT HSRFLQGHEK THTGENPYEC KECGKAFASL
SSLHRHKKTH WKKTHTGENP YGCKECGKAF ASLSSLHRHK KTH