ZNF99_HUMAN
ID ZNF99_HUMAN Reviewed; 864 AA.
AC A8MXY4; M0R335;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 3.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Zinc finger protein 99;
GN Name=ZNF99; Synonyms=C19orf9;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 90-154.
RX PubMed=8467795; DOI=10.1002/j.1460-2075.1993.tb05781.x;
RA Bellefroid E.J., Marine J.-C., Ried T., Lecocq P.J., Riviere M.,
RA Amemiya C.T., Poncelet D.A., Coulie P.G., de Jong P.J., Szpirer C.,
RA Ward D.C., Martial J.A.;
RT "Clustered organization of homologous KRAB zinc-finger genes with enhanced
RT expression in human T lymphoid cells.";
RL EMBO J. 12:1363-1374(1993).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AC008626; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS59369.1; -.
DR RefSeq; NP_001073878.2; NM_001080409.2.
DR AlphaFoldDB; A8MXY4; -.
DR SMR; A8MXY4; -.
DR BioGRID; 113467; 3.
DR STRING; 9606.ENSP00000472969; -.
DR iPTMnet; A8MXY4; -.
DR PhosphoSitePlus; A8MXY4; -.
DR BioMuta; ZNF99; -.
DR jPOST; A8MXY4; -.
DR MassIVE; A8MXY4; -.
DR PeptideAtlas; A8MXY4; -.
DR PRIDE; A8MXY4; -.
DR ProteomicsDB; 2362; -.
DR Antibodypedia; 56870; 57 antibodies from 10 providers.
DR DNASU; 7652; -.
DR Ensembl; ENST00000596209.4; ENSP00000472969.1; ENSG00000213973.10.
DR GeneID; 7652; -.
DR KEGG; hsa:7652; -.
DR MANE-Select; ENST00000596209.4; ENSP00000472969.1; NM_001080409.3; NP_001073878.2.
DR UCSC; uc021urt.2; human.
DR CTD; 7652; -.
DR DisGeNET; 7652; -.
DR GeneCards; ZNF99; -.
DR HGNC; HGNC:13175; ZNF99.
DR HPA; ENSG00000213973; Tissue enhanced (testis).
DR MIM; 603981; gene.
DR neXtProt; NX_A8MXY4; -.
DR OpenTargets; ENSG00000213973; -.
DR PharmGKB; PA37747; -.
DR VEuPathDB; HostDB:ENSG00000213973; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163381; -.
DR InParanoid; A8MXY4; -.
DR OMA; VIHMERN; -.
DR OrthoDB; 1318335at2759; -.
DR TreeFam; TF343410; -.
DR PathwayCommons; A8MXY4; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR BioGRID-ORCS; 7652; 13 hits in 1013 CRISPR screens.
DR GenomeRNAi; 7652; -.
DR Pharos; A8MXY4; Tdark.
DR PRO; PR:A8MXY4; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; A8MXY4; protein.
DR Bgee; ENSG00000213973; Expressed in ventricular zone and 13 other tissues.
DR ExpressionAtlas; A8MXY4; baseline and differential.
DR Genevisible; A8MXY4; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator 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: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; 19.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 23.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 13.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 21.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 24.
PE 2: Evidence at transcript level;
KW DNA-binding; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..864
FT /note="Zinc finger protein 99"
FT /id="PRO_0000429127"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 173..195
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 201..223
FT /note="C2H2-type 2; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 229..251
FT /note="C2H2-type 3; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 257..279
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 285..307
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 313..335
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 341..363
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 369..391
FT /note="C2H2-type 8; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 397..419
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 425..447
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 453..475
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 481..503
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 509..531
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 537..559
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 565..587
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 593..615
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 621..643
FT /note="C2H2-type 17"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 649..671
FT /note="C2H2-type 18"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 677..699
FT /note="C2H2-type 19"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 705..727
FT /note="C2H2-type 20"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 733..755
FT /note="C2H2-type 21"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 761..783
FT /note="C2H2-type 22"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 789..811
FT /note="C2H2-type 23"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 817..839
FT /note="C2H2-type 24"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VARIANT 7
FT /note="W -> R (in dbSNP:rs34726149)"
FT /id="VAR_061935"
FT VARIANT 129
FT /note="A -> G (in dbSNP:rs7255780)"
FT /id="VAR_044501"
SQ SEQUENCE 864 AA; 100791 MW; DF66A625F51E5149 CRC64;
MGSLTFWDVT IEFALEEWQC LDMAQQNLYR NVMLENYRNL VFLGIAVSKL DLITCLKQGK
EPWNMKRHEM VTKPPVISSH FTQDFWPDQS IKDSFQEIIL RTYARCGHKN LRLRKDCESV
NEGKMHEEAY NKLNQCWTTT QGKIFQCNKY VKVFHKYSNS NRYKIRHTKK KTFKCMKCSK
SFFMLSHLIQ HKRIHTRENI YKCEERGKAF KWFSTLIKHK IIHTEDKPYK YKKCGKAFNI
SSMFTKCKII HTGKKPCKCE ECGKVFNNSS TLMKHKIIHT GKKPYKCEEC GKAFKQSSHL
TRHKAIHTGE KPYKCEECGK AFNHFSALRK HQIIHTGKKP YKCEECGKAF SQSSTLRKHE
IIHTEEKPYK YEECGKAFSN LSALRKHEII HTGQKPYKCE ECGKAFKWSS KLTVHKVIHT
AEKPCKCEEC GKAFKRFSAL RKHKIIHTGK QPYKCEECSK AFSNFSALRK HEIIHTGEKP
YKCEECGKAF KWSSKLTVHK VIHMEEKPCK CEECGKAFKH FSALRKHKII HTGKKPYKCE
ECGKAFNNSS TLMKHKIIHT GKKPYKCEEC GKAFKQSSHL TRHKAIHTGE KPYKCEECGK
AFNHFSALRK HQIIHTGKKP YKCEECGKAF SQSSTLRKHE IIHTGEKPYK CEECGKAFKW
SSHLTRHKVI HTEEKPYKCE ECGKAFNHFS ALRKHKIIHT GKKPYKCEEC GKAFSQSSTL
RKHEIIHTGE KPYKCEECGK AFKWSSKLTV HKVIHTAEKP CKCEECGKAF KHFSALRKHK
IIHTGKKPYK CEECGKAFNN SSTLRKHEII HTGEKSYKCE ECGKAFQWSS KLTLHKVIHM
ERNPANVKNV AKLLNISQPL ENMR