ZFTA_HUMAN
ID ZFTA_HUMAN Reviewed; 678 AA.
AC C9JLR9; A6NLS7; Q3C1V4;
DT 18-MAY-2010, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 1.
DT 03-AUG-2022, entry version 85.
DE RecName: Full=Zinc finger translocation-associated protein {ECO:0000305};
DE Short=ZFTA {ECO:0000305};
GN Name=ZFTA {ECO:0000312|HGNC:HGNC:28449}; Synonyms=C11orf95;
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 162-538.
RA Totoki Y., Yada T., Sakaki Y., Takeda T.;
RT "Identification of novel human genes predicted by combining multiple gene-
RT finders.";
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP CHROMOSOMAL TRANSLOCATION WITH MRTFB.
RX PubMed=20607705; DOI=10.1002/gcc.20788;
RA Huang D., Sumegi J., Dal Cin P., Reith J.D., Yasuda T., Nelson M.,
RA Muirhead D., Bridge J.A.;
RT "C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in
RT chondroid lipoma.";
RL Genes Chromosomes Cancer 49:810-818(2010).
RN [4]
RP CHROMOSOMAL TRANSLOCATION WITH RELA.
RX PubMed=24553141; DOI=10.1038/nature13109;
RA Parker M., Mohankumar K.M., Punchihewa C., Weinlich R., Dalton J.D., Li Y.,
RA Lee R., Tatevossian R.G., Phoenix T.N., Thiruvenkatam R., White E.,
RA Tang B., Orisme W., Gupta K., Rusch M., Chen X., Li Y., Nagahawhatte P.,
RA Hedlund E., Finkelstein D., Wu G., Shurtleff S., Easton J., Boggs K.,
RA Yergeau D., Vadodaria B., Mulder H.L., Becksfort J., Becksford J.,
RA Gupta P., Huether R., Ma J., Song G., Gajjar A., Merchant T., Boop F.,
RA Smith A.A., Ding L., Lu C., Ochoa K., Zhao D., Fulton R.S., Fulton L.L.,
RA Mardis E.R., Wilson R.K., Downing J.R., Green D.R., Zhang J., Ellison D.W.,
RA Gilbertson R.J.;
RT "C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in
RT ependymoma.";
RL Nature 506:451-455(2014).
RN [5]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-375, AND IDENTIFICATION BY MASS
RP 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).
CC -!- DISEASE: Note=A chromosomal aberration involving MRTFB is found in 3
CC chondroid lipomas. Translocation t(11;16)(q13;p13) with MRTFB produces
CC a ZFTA-MRTFB fusion protein (PubMed:20607705).
CC {ECO:0000269|PubMed:20607705}.
CC -!- DISEASE: Note=A chromosomal aberration involving RELA is found in more
CC than two-thirds of supratentorial ependymomas. Translocation with RELA
CC produces a ZFTA-RELA fusion protein. ZFTA-RELA translocations are
CC potent oncogenes that probably transform neural stem cells by driving
CC an aberrant NF-kappa-B transcription program (PubMed:24553141).
CC {ECO:0000269|PubMed:24553141}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAE46893.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AP006289; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB231751; BAE46893.1; ALT_SEQ; mRNA.
DR CCDS; CCDS44636.1; -.
DR RefSeq; NP_001138408.1; NM_001144936.1.
DR AlphaFoldDB; C9JLR9; -.
DR STRING; 9606.ENSP00000482180; -.
DR iPTMnet; C9JLR9; -.
DR PhosphoSitePlus; C9JLR9; -.
DR BioMuta; C11orf95; -.
DR MassIVE; C9JLR9; -.
DR MaxQB; C9JLR9; -.
DR PeptideAtlas; C9JLR9; -.
DR PRIDE; C9JLR9; -.
DR ProteomicsDB; 10741; -.
DR Antibodypedia; 72993; 49 antibodies from 13 providers.
DR Ensembl; ENST00000433688.2; ENSP00000482180.1; ENSG00000188070.9.
DR GeneID; 65998; -.
DR KEGG; hsa:65998; -.
DR MANE-Select; ENST00000433688.2; ENSP00000482180.1; NM_001144936.2; NP_001138408.1.
DR UCSC; uc010rmv.3; human.
DR CTD; 65998; -.
DR DisGeNET; 65998; -.
DR GeneCards; ZFTA; -.
DR HGNC; HGNC:28449; ZFTA.
DR HPA; ENSG00000188070; Low tissue specificity.
DR MalaCards; ZFTA; -.
DR MIM; 615699; gene.
DR neXtProt; NX_C9JLR9; -.
DR OpenTargets; ENSG00000188070; -.
DR Orphanet; 251636; Ependymoma.
DR Orphanet; 530792; RELA fusion-positive ependymoma.
DR VEuPathDB; HostDB:ENSG00000188070; -.
DR eggNOG; ENOG502QTI3; Eukaryota.
DR GeneTree; ENSGT00600000084617; -.
DR HOGENOM; CLU_035783_0_0_1; -.
DR InParanoid; C9JLR9; -.
DR OMA; WRMDYLM; -.
DR OrthoDB; 570589at2759; -.
DR PhylomeDB; C9JLR9; -.
DR PathwayCommons; C9JLR9; -.
DR BioGRID-ORCS; 65998; 11 hits in 133 CRISPR screens.
DR ChiTaRS; C11orf95; human.
DR GenomeRNAi; 65998; -.
DR Pharos; C9JLR9; Tdark.
DR PRO; PR:C9JLR9; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; C9JLR9; protein.
DR Bgee; ENSG00000188070; Expressed in cortical plate and 180 other tissues.
DR ExpressionAtlas; C9JLR9; baseline and differential.
DR Genevisible; C9JLR9; HS.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IBA:GO_Central.
DR InterPro; IPR040647; SPIN-DOC_Znf-C2H2.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF18658; zf-C2H2_12; 4.
DR SMART; SM00355; ZnF_C2H2; 4.
PE 1: Evidence at protein level;
KW Chromosomal rearrangement; Isopeptide bond; Reference proteome;
KW Ubl conjugation.
FT CHAIN 1..678
FT /note="Zinc finger translocation-associated protein"
FT /id="PRO_0000393909"
FT REGION 1..100
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 182..250
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 329..417
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 490..583
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 76..100
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 184..202
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 228..242
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 352..366
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 512..530
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 557..576
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 138
FT /note="Breakpoint for translocation to form ZFTA-MLK2
FT fusion protein"
FT CROSSLNK 375
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
SQ SEQUENCE 678 AA; 73197 MW; 5F6968486885F093 CRC64;
MEPGGDHRSR SSGGRGGPGP AVASARGRRL PPAGSSGSAE PEEDEGGQDL QLEGGALGSW
GSAPLPSSRA RGPASSGRKY SDHCEARASR PGKSRIPGRD HRRYYHDHWR LEYLMDFNPA
RHGMVCMVCG SSLATLKLST IKRHIRQKHP YSLHWSPREK EVISNSWDAH LGLGACGEAE
GLGVQGAEEE EEEEEEEEEE GAGVPACPPK GPGKAPAGGG CRRQRRGGPV APRARRLRLS
ASRRAGGSRG LGARRLERRL KESLQNWFRA ECLMDYDPRG NRLVCMACGR ALPSLHLDDI
RAHVLEVHPG SLGLSGPQRS ALLQAWGGQP EALSELTQSP PGDDLAPQDL TGKSRDSASA
AGAPSSQDLS PPDVKEEAGW VPERPGPAEE EEELEEGEGE RAGVPGRSPR GRAHRRHPQE
RWRLEYLMEL DGGRRGLVCG VCGGALASLK MSTIERHIRR RHPGSTRLGG PVQALIAREW
SEKAAHLLAL GPPRPESPQG PIPPGTAAAS DEGGGDEEEE PEEEEEEWGD VPLSPGAPLE
RPAEEEEDEE DGQEPGGLAL PPPPPPPPPP PPRSREQRRN YQPRWRGEYL MDYDGSRRGL
VCMVCGGALA TLKVSTIKRH ILQVHPFSMD FTPEERQTIL EAYEEAALRC YGHEGFGPPA
PAPRDGGADL KSGAVCRA
