ZFX_HUMAN
ID ZFX_HUMAN Reviewed; 805 AA.
AC P17010; B9EG97; O43668; Q8WYJ8;
DT 01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 204.
DE RecName: Full=Zinc finger X-chromosomal protein;
GN Name=ZFX;
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 [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=2512506; DOI=10.1038/342708a0;
RA Schneider-Gaedicke A., Beer-Romero P., Brown L.G., Mardon G., Luoh S.W.,
RA Page D.C.;
RT "Putative transcription activator with alternative isoforms encoded by
RT human ZFX gene.";
RL Nature 342:708-711(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2308929; DOI=10.1073/pnas.87.5.1681;
RA Palmer M.S., Berta P., Sinclair A.H., Pym B., Goodfellow P.N.;
RT "Comparison of human ZFY and ZFX transcripts.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:1681-1685(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-411.
RA Poloumienko A., Blecher S.R.;
RT "Exon-intron structure of the X and Y-linked zinc finger protein in
RT mammals.";
RL Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 413-805.
RX PubMed=2500252; DOI=10.1016/0092-8674(89)90061-5;
RA Schneider-Gaedicke A., Beer-Romero P., Brown L.G., Nussbaum R., Page D.C.;
RT "ZFX has a gene structure similar to ZFY, the putative human sex
RT determinant, and escapes X inactivation.";
RL Cell 57:1247-1258(1989).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 427-805.
RX PubMed=2041734; DOI=10.1093/nar/19.10.2579;
RA North M., Sargent C., O'Brien J., Taylor K., Wolfe J., Affara N.A.,
RA Ferguson-Smith M.A.;
RT "Comparison of ZFY and ZFX gene structure and analysis of alternative 3'
RT untranslated regions of ZFY.";
RL Nucleic Acids Res. 19:2579-2586(1991).
CC -!- FUNCTION: Probable transcriptional activator.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P17010-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P17010-2; Sequence=VSP_014371;
CC Name=3;
CC IsoId=P17010-3; Sequence=VSP_054512;
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. ZFX/ZFY subfamily. {ECO:0000305}.
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DR EMBL; X59738; CAA42416.1; -; mRNA.
DR EMBL; X59739; CAA42417.1; -; mRNA.
DR EMBL; X59740; CAA42418.1; -; mRNA.
DR EMBL; M30608; AAA61309.1; -; mRNA.
DR EMBL; AC002404; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC136309; AAI36310.1; -; mRNA.
DR EMBL; AH005875; AAL62492.1; -; Genomic_DNA.
DR EMBL; AF045781; AAC03062.2; -; Genomic_DNA.
DR EMBL; M26946; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS14211.1; -. [P17010-1]
DR CCDS; CCDS55390.1; -. [P17010-2]
DR CCDS; CCDS83461.1; -. [P17010-3]
DR PIR; B35047; B35047.
DR RefSeq; NP_001171555.1; NM_001178084.1. [P17010-1]
DR RefSeq; NP_001171556.1; NM_001178085.1. [P17010-1]
DR RefSeq; NP_001171557.1; NM_001178086.1. [P17010-2]
DR RefSeq; NP_001317256.1; NM_001330327.1. [P17010-3]
DR RefSeq; NP_003401.2; NM_003410.3. [P17010-1]
DR RefSeq; XP_005274648.1; XM_005274591.4. [P17010-1]
DR RefSeq; XP_005274649.1; XM_005274592.3. [P17010-1]
DR RefSeq; XP_006724576.1; XM_006724513.3. [P17010-3]
DR RefSeq; XP_011543881.1; XM_011545579.1. [P17010-1]
DR RefSeq; XP_011543883.1; XM_011545581.2. [P17010-1]
DR RefSeq; XP_016885277.1; XM_017029788.1. [P17010-3]
DR RefSeq; XP_016885278.1; XM_017029789.1. [P17010-3]
DR RefSeq; XP_016885279.1; XM_017029790.1. [P17010-3]
DR RefSeq; XP_016885280.1; XM_017029791.1. [P17010-3]
DR RefSeq; XP_016885281.1; XM_017029792.1. [P17010-3]
DR RefSeq; XP_016885282.1; XM_017029793.1. [P17010-3]
DR RefSeq; XP_016885283.1; XM_017029794.1. [P17010-1]
DR RefSeq; XP_016885284.1; XM_017029795.1. [P17010-1]
DR AlphaFoldDB; P17010; -.
DR SMR; P17010; -.
DR BioGRID; 113375; 16.
DR DIP; DIP-62116N; -.
DR IntAct; P17010; 5.
DR STRING; 9606.ENSP00000368475; -.
DR iPTMnet; P17010; -.
DR PhosphoSitePlus; P17010; -.
DR BioMuta; ZFX; -.
DR DMDM; 68844748; -.
DR EPD; P17010; -.
DR jPOST; P17010; -.
DR MassIVE; P17010; -.
DR MaxQB; P17010; -.
DR PaxDb; P17010; -.
DR PeptideAtlas; P17010; -.
DR PRIDE; P17010; -.
DR ProteomicsDB; 53407; -. [P17010-1]
DR ProteomicsDB; 53408; -. [P17010-2]
DR ProteomicsDB; 7522; -.
DR Antibodypedia; 577; 180 antibodies from 28 providers.
DR DNASU; 7543; -.
DR Ensembl; ENST00000304543.10; ENSP00000304985.5; ENSG00000005889.16. [P17010-1]
DR Ensembl; ENST00000379177.5; ENSP00000368475.1; ENSG00000005889.16. [P17010-1]
DR Ensembl; ENST00000379188.7; ENSP00000368486.4; ENSG00000005889.16. [P17010-3]
DR Ensembl; ENST00000539115.5; ENSP00000438233.1; ENSG00000005889.16. [P17010-2]
DR GeneID; 7543; -.
DR KEGG; hsa:7543; -.
DR MANE-Select; ENST00000304543.10; ENSP00000304985.5; NM_003410.4; NP_003401.2.
DR UCSC; uc004dbd.3; human. [P17010-1]
DR CTD; 7543; -.
DR DisGeNET; 7543; -.
DR GeneCards; ZFX; -.
DR HGNC; HGNC:12869; ZFX.
DR HPA; ENSG00000005889; Low tissue specificity.
DR MIM; 314980; gene.
DR neXtProt; NX_P17010; -.
DR OpenTargets; ENSG00000005889; -.
DR PharmGKB; PA37458; -.
DR VEuPathDB; HostDB:ENSG00000005889; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000158684; -.
DR HOGENOM; CLU_021097_0_0_1; -.
DR InParanoid; P17010; -.
DR OMA; HREPKAQ; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; P17010; -.
DR TreeFam; TF335557; -.
DR PathwayCommons; P17010; -.
DR SignaLink; P17010; -.
DR SIGNOR; P17010; -.
DR BioGRID-ORCS; 7543; 75 hits in 726 CRISPR screens.
DR ChiTaRS; ZFX; human.
DR GeneWiki; ZFX; -.
DR GenomeRNAi; 7543; -.
DR Pharos; P17010; Tbio.
DR PRO; PR:P17010; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P17010; protein.
DR Bgee; ENSG00000005889; Expressed in calcaneal tendon and 175 other tissues.
DR ExpressionAtlas; P17010; baseline and differential.
DR Genevisible; P17010; HS.
DR GO; GO:0000785; C:chromatin; IDA:ARUK-UCL.
DR GO; GO:0005694; C:chromosome; IBA:GO_Central.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0043035; F:chromatin insulator sequence binding; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:ARUK-UCL.
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; IDA:ARUK-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR006794; Transcrp_activ_Zfx/Zfy-dom.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 7.
DR Pfam; PF04704; Zfx_Zfy_act; 1.
DR SMART; SM00355; ZnF_C2H2; 13.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 13.
PE 2: Evidence at transcript level;
KW Activator; Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..805
FT /note="Zinc finger X-chromosomal protein"
FT /id="PRO_0000047258"
FT ZN_FING 425..447
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 456..478
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 488..510
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 519..542
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 548..570
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 576..599
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 605..627
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 633..656
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 662..684
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 690..713
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 719..741
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 747..770
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 776..798
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT MOD_RES 274
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P17012"
FT VAR_SEQ 1..229
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:2512506"
FT /id="VSP_014371"
FT VAR_SEQ 19
FT /note="T -> TDRVSFCHPGWSTVAPSGSTATSASQAQVICSASRVTGAT (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054512"
FT CONFLICT 337..341
FT /note="AAAAA -> GHAP (in Ref. 1; CAA42416/CAA42417)"
FT /evidence="ECO:0000305"
FT CONFLICT 337
FT /note="A -> R (in Ref. 2; AAA61309)"
FT /evidence="ECO:0000305"
FT CONFLICT 558
FT /note="R -> S (in Ref. 7)"
FT /evidence="ECO:0000305"
FT CONFLICT 634
FT /note="Missing (in Ref. 7)"
FT /evidence="ECO:0000305"
FT CONFLICT 683
FT /note="A -> R (in Ref. 7)"
FT /evidence="ECO:0000305"
FT CONFLICT 771
FT /note="T -> R (in Ref. 7)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 805 AA; 90522 MW; B074079D1762A0AD CRC64;
MDEDGLELQQ EPNSFFDATG ADGTHMDGDQ IVVEVQETVF VSDVVDSDIT VHNFVPDDPD
SVVIQDVIED VVIEDVQCPD IMEEADVSET VIIPEQVLDS DVTEEVSLAH CTVPDDVLAS
DITSASMSMP EHVLTGDSIH VSDVGHVGHV GHVEHVVHDS VVEAEIVTDP LTTDVVSEEV
LVADCASEAV IDANGIPVDQ QDDDKGNCED YLMISLDDAG KIEHDGSSGM TMDTESEIDP
CKVDGTCPEV IKVYIFKADP GEDDLGGTVD IVESEPENDH GVELLDQNSS IRVPREKMVY
MTVNDSQPED EDLNVAEIAD EVYMEVIVGE EDAAAAAAAA AVHEQQMDDN EIKTFMPIAW
AAAYGNNSDG IENRNGTASA LLHIDESAGL GRLAKQKPKK RRRPDSRQYQ TAIIIGPDGH
PLTVYPCMIC GKKFKSRGFL KRHMKNHPEH LAKKKYRCTD CDYTTNKKIS LHNHLESHKL
TSKAEKAIEC DECGKHFSHA GALFTHKMVH KEKGANKMHK CKFCEYETAE QGLLNRHLLA
VHSKNFPHIC VECGKGFRHP SELKKHMRIH TGEKPYQCQY CEYRSADSSN LKTHVKTKHS
KEMPFKCDIC LLTFSDTKEV QQHALIHQES KTHQCLHCDH KSSNSSDLKR HIISVHTKDY
PHKCDMCDKG FHRPSELKKH VAAHKGKKMH QCRHCDFKIA DPFVLSRHIL SVHTKDLPFR
CKRCRKGFRQ QSELKKHMKT HSGRKVYQCE YCEYSTTDAS GFKRHVISIH TKDYPHRCEY
CKKGFRRPSE KNQHIMRHHK EVGLP
