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ZN341_HUMAN
ID   ZN341_HUMAN             Reviewed;         854 AA.
AC   Q9BYN7; A2RUF4; B2RXE5; B7ZM09; Q5JXM8; Q96ST5;
DT   27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
DT   27-SEP-2005, sequence version 2.
DT   03-AUG-2022, entry version 178.
DE   RecName: Full=Zinc finger protein 341;
GN   Name=ZNF341;
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=11780052; DOI=10.1038/414865a;
RA   Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA   Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA   Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA   Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA   Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA   Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA   Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA   Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA   Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA   Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA   Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA   Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA   Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA   Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA   Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA   Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA   Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA   Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA   Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA   Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA   Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 20.";
RL   Nature 414:865-871(2001).
RN   [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 322-854.
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   [5]
RP   FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, INVOLVEMENT IN HIES3, VARIANTS
RP   HIES3 302-ARG--GLU-854 DEL AND 386-ARG--GLU-854 DEL, AND CHARACTERIZATION
RP   OF VARIANTS HIES3 302-ARG--GLU-854 DEL AND 386-ARG--GLU-854 DEL.
RX   PubMed=29907690; DOI=10.1126/sciimmunol.aat4941;
RA   Frey-Jakobs S., Hartberger J.M., Fliegauf M., Bossen C., Wehmeyer M.L.,
RA   Neubauer J.C., Bulashevska A., Proietti M., Froebel P., Noeltner C.,
RA   Yang L., Rojas-Restrepo J., Langer N., Winzer S., Engelhardt K.R.,
RA   Glocker C., Pfeifer D., Klein A., Schaeffer A.A., Lagovsky I.,
RA   Lachover-Roth I., Beziat V., Puel A., Casanova J.L., Fleckenstein B.,
RA   Weidinger S., Kilic S.S., Garty B.Z., Etzioni A., Grimbacher B.;
RT   "ZNF341 controls STAT3 expression and thereby immunocompetence.";
RL   Sci. Immunol. 3:0-0(2018).
RN   [6]
RP   FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN HIES3, VARIANTS HIES3
RP   195-GLN--GLU-854 DEL; 302-ARG--GLU-854 DEL AND 549-TYR--GLU-854 DEL, AND
RP   CHARACTERIZATION OF VARIANTS HIES3 195-GLN--GLU-854 DEL; 302-ARG--GLU-854
RP   DEL AND 549-TYR--GLU-854 DEL.
RX   PubMed=29907691; DOI=10.1126/sciimmunol.aat4956;
RA   Beziat V., Li J., Lin J.X., Ma C.S., Li P., Bousfiha A., Pellier I.,
RA   Zoghi S., Baris S., Keles S., Gray P., Du N., Wang Y., Zerbib Y., Levy R.,
RA   Leclercq T., About F., Lim A.I., Rao G., Payne K., Pelham S.J., Avery D.T.,
RA   Deenick E.K., Pillay B., Chou J., Guery R., Belkadi A., Guerin A.,
RA   Migaud M., Rattina V., Ailal F., Benhsaien I., Bouaziz M., Habib T.,
RA   Chaussabel D., Marr N., El-Benna J., Grimbacher B., Wargon O.,
RA   Bustamante J., Boisson B., Mueller-Fleckenstein I., Fleckenstein B.,
RA   Chandesris M.O., Titeux M., Fraitag S., Alyanakian M.A., Leruez-Ville M.,
RA   Picard C., Meyts I., Di Santo J.P., Hovnanian A., Somer A., Ozen A.,
RA   Rezaei N., Chatila T.A., Abel L., Leonard W.J., Tangye S.G., Puel A.,
RA   Casanova J.L.;
RT   "A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent
RT   STAT3 transcription and activity.";
RL   Sci. Immunol. 3:0-0(2018).
CC   -!- FUNCTION: Transcriptional activator of STAT3 involved in the regulation
CC       of immune homeostasis. Also able to activate STAT1 transcription.
CC       {ECO:0000269|PubMed:29907690, ECO:0000269|PubMed:29907691}.
CC   -!- SUBUNIT: Binds DNA and to the STAT3 promoter.
CC       {ECO:0000269|PubMed:29907690}.
CC   -!- INTERACTION:
CC       Q9BYN7; Q9H3H3-3: C11orf68; NbExp=3; IntAct=EBI-9089622, EBI-12002214;
CC       Q9BYN7; Q6IPU0: CENPP; NbExp=3; IntAct=EBI-9089622, EBI-10250303;
CC       Q9BYN7; P33240: CSTF2; NbExp=3; IntAct=EBI-9089622, EBI-711360;
CC       Q9BYN7; P50402: EMD; NbExp=3; IntAct=EBI-9089622, EBI-489887;
CC       Q9BYN7; P62993: GRB2; NbExp=3; IntAct=EBI-9089622, EBI-401755;
CC       Q9BYN7; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-9089622, EBI-6426443;
CC       Q9BYN7; O15481: MAGEB4; NbExp=3; IntAct=EBI-9089622, EBI-751857;
CC       Q9BYN7; O43639: NCK2; NbExp=3; IntAct=EBI-9089622, EBI-713635;
CC       Q9BYN7; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-9089622, EBI-741158;
CC       Q9BYN7; Q13882: PTK6; NbExp=3; IntAct=EBI-9089622, EBI-1383632;
CC       Q9BYN7-2; Q99832: CCT7; NbExp=3; IntAct=EBI-16435478, EBI-357046;
CC       Q9BYN7-2; O75460-2: ERN1; NbExp=3; IntAct=EBI-16435478, EBI-25852368;
CC       Q9BYN7-2; Q0VDC6: FKBP1A; NbExp=3; IntAct=EBI-16435478, EBI-10226858;
CC       Q9BYN7-2; P54652: HSPA2; NbExp=3; IntAct=EBI-16435478, EBI-356991;
CC       Q9BYN7-2; P49591: SARS1; NbExp=3; IntAct=EBI-16435478, EBI-1053431;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29907690,
CC       ECO:0000269|PubMed:29907691}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9BYN7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9BYN7-2; Sequence=VSP_027218;
CC   -!- DISEASE: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
CC       (HIES3) [MIM:618282]: An immunologic disorder characterized by skin
CC       bacterial infections in particular with Staphylococcus aureus,
CC       susceptibility to fungal infections such as chronic mucocutaneous
CC       candidiasis, atopic dermatitis, recurrent respiratory infections,
CC       bronchiectasis, and increased serum IgE and IgG. Immunologic work-up
CC       shows impaired differentiation of CD4+ T cells into T-helper 17 cells,
CC       decreased memory B cells, and often decreased NK cells. Some patients
CC       manifest extrahemapoietic features, including facial dysmorphism,
CC       abnormal dentition, alopecia, joint hypermobility and bone fractures.
CC       Disease onset is in early childhood. {ECO:0000269|PubMed:29907690,
CC       ECO:0000269|PubMed:29907691}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC       family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB55193.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AL050349; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471077; EAW76295.1; -; Genomic_DNA.
DR   EMBL; BC132873; AAI32874.1; -; mRNA.
DR   EMBL; BC144188; AAI44189.1; -; mRNA.
DR   EMBL; BC146811; AAI46812.1; -; mRNA.
DR   EMBL; BC157823; AAI57824.1; -; mRNA.
DR   EMBL; AK027550; BAB55193.1; ALT_INIT; mRNA.
DR   CCDS; CCDS13227.1; -. [Q9BYN7-2]
DR   CCDS; CCDS74719.1; -. [Q9BYN7-1]
DR   RefSeq; NP_001269862.1; NM_001282933.1. [Q9BYN7-1]
DR   RefSeq; NP_001269864.1; NM_001282935.1.
DR   RefSeq; NP_116208.3; NM_032819.4. [Q9BYN7-2]
DR   AlphaFoldDB; Q9BYN7; -.
DR   SMR; Q9BYN7; -.
DR   BioGRID; 124344; 19.
DR   IntAct; Q9BYN7; 21.
DR   STRING; 9606.ENSP00000364346; -.
DR   iPTMnet; Q9BYN7; -.
DR   PhosphoSitePlus; Q9BYN7; -.
DR   BioMuta; ZNF341; -.
DR   DMDM; 76803837; -.
DR   EPD; Q9BYN7; -.
DR   jPOST; Q9BYN7; -.
DR   MassIVE; Q9BYN7; -.
DR   MaxQB; Q9BYN7; -.
DR   PaxDb; Q9BYN7; -.
DR   PeptideAtlas; Q9BYN7; -.
DR   PRIDE; Q9BYN7; -.
DR   ProteomicsDB; 79671; -. [Q9BYN7-1]
DR   ProteomicsDB; 79672; -. [Q9BYN7-2]
DR   Antibodypedia; 10751; 114 antibodies from 19 providers.
DR   DNASU; 84905; -.
DR   Ensembl; ENST00000342427.6; ENSP00000344308.2; ENSG00000131061.14. [Q9BYN7-2]
DR   Ensembl; ENST00000375200.6; ENSP00000364346.1; ENSG00000131061.14. [Q9BYN7-1]
DR   GeneID; 84905; -.
DR   KEGG; hsa:84905; -.
DR   MANE-Select; ENST00000375200.6; ENSP00000364346.1; NM_001282933.2; NP_001269862.1.
DR   UCSC; uc002wzx.5; human. [Q9BYN7-1]
DR   CTD; 84905; -.
DR   DisGeNET; 84905; -.
DR   GeneCards; ZNF341; -.
DR   HGNC; HGNC:15992; ZNF341.
DR   HPA; ENSG00000131061; Low tissue specificity.
DR   MalaCards; ZNF341; -.
DR   MIM; 618269; gene.
DR   MIM; 618282; phenotype.
DR   neXtProt; NX_Q9BYN7; -.
DR   OpenTargets; ENSG00000131061; -.
DR   PharmGKB; PA38076; -.
DR   VEuPathDB; HostDB:ENSG00000131061; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00390000000546; -.
DR   HOGENOM; CLU_013403_0_0_1; -.
DR   InParanoid; Q9BYN7; -.
DR   OMA; SRRAHMM; -.
DR   PhylomeDB; Q9BYN7; -.
DR   TreeFam; TF333164; -.
DR   PathwayCommons; Q9BYN7; -.
DR   SignaLink; Q9BYN7; -.
DR   BioGRID-ORCS; 84905; 16 hits in 1103 CRISPR screens.
DR   ChiTaRS; ZNF341; human.
DR   GenomeRNAi; 84905; -.
DR   Pharos; Q9BYN7; Tdark.
DR   PRO; PR:Q9BYN7; -.
DR   Proteomes; UP000005640; Chromosome 20.
DR   RNAct; Q9BYN7; protein.
DR   Bgee; ENSG00000131061; Expressed in mucosa of transverse colon and 104 other tissues.
DR   ExpressionAtlas; Q9BYN7; baseline and differential.
DR   Genevisible; Q9BYN7; HS.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR   GO; GO:0001216; F:DNA-binding transcription activator activity; IDA:UniProtKB.
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:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   Pfam; PF00096; zf-C2H2; 5.
DR   SMART; SM00355; ZnF_C2H2; 12.
DR   SUPFAM; SSF57667; SSF57667; 7.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 12.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; DNA-binding; Metal-binding; Nucleus;
KW   Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW   Zinc-finger.
FT   CHAIN           1..854
FT                   /note="Zinc finger protein 341"
FT                   /id="PRO_0000047541"
FT   ZN_FING         53..76
FT                   /note="C2H2-type 1; atypical"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         322..344
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         350..372
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         445..467
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         473..497
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         503..525
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         540..564
FT                   /note="C2H2-type 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         566..588
FT                   /note="C2H2-type 8"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         594..616
FT                   /note="C2H2-type 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         622..644
FT                   /note="C2H2-type 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         650..677
FT                   /note="C2H2-type 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         683..705
FT                   /note="C2H2-type 12"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   REGION          152..217
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          399..434
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          731..763
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        174..208
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        731..747
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         306..312
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_027218"
FT   VARIANT         195..854
FT                   /note="Missing (in HIES3; does not localize to the
FT                   nucleus)"
FT                   /evidence="ECO:0000269|PubMed:29907691"
FT                   /id="VAR_081880"
FT   VARIANT         302..854
FT                   /note="Missing (in HIES3; absence of the full-length
FT                   protein in patient cells; loss of function in
FT                   transcriptional STAT3 activation; loss of DNA binding; does
FT                   not localize to the nucleus)"
FT                   /evidence="ECO:0000269|PubMed:29907690,
FT                   ECO:0000269|PubMed:29907691"
FT                   /id="VAR_081881"
FT   VARIANT         386..854
FT                   /note="Missing (in HIES3; decreased function in
FT                   transcriptional STAT3 activation; severly reduced DNA
FT                   binding in vitro; does not affect nuclear localization)"
FT                   /evidence="ECO:0000269|PubMed:29907690"
FT                   /id="VAR_081882"
FT   VARIANT         549..854
FT                   /note="Missing (in HIES3; absence of the full-length
FT                   protein in patient cells; results in weak DNA binding in
FT                   vitro; does not affect localization to the nucleus)"
FT                   /evidence="ECO:0000269|PubMed:29907691"
FT                   /id="VAR_081883"
FT   CONFLICT        659
FT                   /note="G -> D (in Ref. 4; BAB55193)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        706
FT                   /note="T -> M (in Ref. 4; BAB55193)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   854 AA;  92728 MW;  1198203F2C7ECF07 CRC64;
     MAQAIFEALE GMDNQTVLAV QSLLDGQGAV PDPTGQSVNA PPAIQPLDDE DVFLCGKCKK
     QFNSLPAFMT HKREQCQGNA PALATVSLAT NSIYPPSAAP TAVQQAPTPA NRQISTYITV
     PPSPLIQTLV QGNILVSDDV LMSAMSAFTS LDQPMPQGPP PVQSSLNMHS VPSYLTQPPP
     PPPPPPPLPP PPPPQPPPPP PQSLGPPGRP NPGGNGVVEV YSAAAPLAGS GTVEIQALGM
     QPYPPLEVPN QCVEPPVYPT PTVYSPGKQG FKPKGPNPAA PMTSATGGTV ATFDSPATLK
     TRRAKGARGL PEAAGKPKAQ KLKCSYCDKS FTKNFDLQQH IRSHTGEKPF QCIACGRAFA
     QKSNVKKHMQ THKVWPPGHS GGTVSRNSVT VQVMALNPSR QEDEESTGLG QPLPGAPQPQ
     ALSTAGEEEG DKPESKQVVL IDSSYLCQFC PSKFSTYFQL KSHMTQHKNE QVYKCVVKSC
     AQTFPKLDTF LEHIKSHQEE LSYRCHLCGK DFPSLYDLGV HQYSHSLLPQ HSPKKDNAVY
     KCVKCVNKYS TPEALEHHLQ TATHNFPCPH CQKVFPCERY LRRHLPTHGS GGRFKCQVCK
     KFFRREHYLK LHAHIHSGEK PYKCSVCESA FNRKDKLKRH MLIHEPFKKY KCPFSTHTGC
     SKEFNRPDKL KAHILSHSGM KLHKCALCSK SFSRRAHLAE HQRAHTGNYK FRCAGCAKGF
     SRHKYLKDHR CRLGPQKDKD LQTRRPPQRR AAPRSCGSGG RKVLTPLPDP LGLEELKDTG
     AGLVPEAVPG KPPFAEPDAV LSIVVGGAVG AETELVVPGH AEGLGSNLAL AELQAGAEGP
     CAMLAVPVYI QASE
 
 
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