ZXDA_HUMAN
ID ZXDA_HUMAN Reviewed; 799 AA.
AC P98168; Q9UJP7;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2001, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Zinc finger X-linked protein ZXDA;
GN Name=ZXDA;
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=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 303-799, AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=8268913; DOI=10.1093/hmg/2.10.1611;
RA Greig G.M., Sharp C.B., Carrel L., Willard H.F.;
RT "Duplicated zinc finger protein genes on the proximal short arm of the
RT human X chromosome: isolation, characterization and X-inactivation
RT studies.";
RL Hum. Mol. Genet. 2:1611-1618(1993).
RN [4]
RP FUNCTION, SELF-ASSOCIATION, AND INTERACTION WITH ZXDC AND CIITA.
RX PubMed=17493635; DOI=10.1016/j.jmb.2007.04.033;
RA Al-Kandari W., Koneni R., Navalgund V., Aleksandrova A., Jambunathan S.,
RA Fontes J.D.;
RT "The zinc finger proteins ZXDA and ZXDC form a complex that binds CIITA and
RT regulates MHC II gene transcription.";
RL J. Mol. Biol. 369:1175-1187(2007).
RN [5]
RP VARIANT GLY-202.
RX PubMed=26566883; DOI=10.1136/jmedgenet-2015-103179;
RA Rafiullah R., Aslamkhan M., Paramasivam N., Thiel C., Mustafa G.,
RA Wiemann S., Schlesner M., Wade R.C., Rappold G.A., Berkel S.;
RT "Homozygous missense mutation in the LMAN2L gene segregates with
RT intellectual disability in a large consanguineous Pakistani family.";
RL J. Med. Genet. 53:138-144(2016).
CC -!- FUNCTION: Cooperates with CIITA to promote transcription of MHC class I
CC and MHC class II genes. {ECO:0000269|PubMed:17493635}.
CC -!- SUBUNIT: Self-associates. Interacts with ZXDC and CIITA.
CC {ECO:0000269|PubMed:17493635}.
CC -!- INTERACTION:
CC P98168; P33076: CIITA; NbExp=4; IntAct=EBI-1538980, EBI-1538819;
CC P98168; Q2QGD7: ZXDC; NbExp=5; IntAct=EBI-1538980, EBI-1538838;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: May be expressed in brain, heart, kidney, liver,
CC lung, muscle and placenta. {ECO:0000269|PubMed:8268913}.
CC -!- SIMILARITY: Belongs to the ZXD family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC37521.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL034396; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC059356; AAH59356.1; -; mRNA.
DR EMBL; L14787; AAC37521.1; ALT_FRAME; mRNA.
DR CCDS; CCDS14376.1; -.
DR PIR; I54340; I54340.
DR RefSeq; NP_009087.1; NM_007156.4.
DR AlphaFoldDB; P98168; -.
DR SMR; P98168; -.
DR BioGRID; 113568; 1.
DR IntAct; P98168; 2.
DR STRING; 9606.ENSP00000351530; -.
DR iPTMnet; P98168; -.
DR PhosphoSitePlus; P98168; -.
DR BioMuta; ZXDA; -.
DR DMDM; 12644369; -.
DR jPOST; P98168; -.
DR MassIVE; P98168; -.
DR MaxQB; P98168; -.
DR PaxDb; P98168; -.
DR PeptideAtlas; P98168; -.
DR PRIDE; P98168; -.
DR Antibodypedia; 27019; 45 antibodies from 16 providers.
DR DNASU; 7789; -.
DR Ensembl; ENST00000358697.6; ENSP00000351530.4; ENSG00000198205.7.
DR GeneID; 7789; -.
DR KEGG; hsa:7789; -.
DR MANE-Select; ENST00000358697.6; ENSP00000351530.4; NM_007156.5; NP_009087.1.
DR UCSC; uc004dve.4; human.
DR CTD; 7789; -.
DR GeneCards; ZXDA; -.
DR HGNC; HGNC:13198; ZXDA.
DR HPA; ENSG00000198205; Low tissue specificity.
DR MIM; 300235; gene.
DR neXtProt; NX_P98168; -.
DR OpenTargets; ENSG00000198205; -.
DR PharmGKB; PA37763; -.
DR VEuPathDB; HostDB:ENSG00000198205; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000164739; -.
DR HOGENOM; CLU_007312_0_0_1; -.
DR InParanoid; P98168; -.
DR OMA; TVTTHNQ; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; P98168; -.
DR TreeFam; TF330996; -.
DR PathwayCommons; P98168; -.
DR SignaLink; P98168; -.
DR BioGRID-ORCS; 7789; 7 hits in 673 CRISPR screens.
DR GenomeRNAi; 7789; -.
DR Pharos; P98168; Tbio.
DR PRO; PR:P98168; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P98168; protein.
DR Bgee; ENSG00000198205; Expressed in endothelial cell and 136 other tissues.
DR Genevisible; P98168; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0070742; F:C2H2 zinc finger domain binding; IPI:UniProtKB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003713; F:transcription coactivator activity; IMP:GO_Central.
DR GO; GO:0003712; F:transcription coregulator activity; IBA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IMP:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 3.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 9.
PE 1: Evidence at protein level;
KW Activator; Metal-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..799
FT /note="Zinc finger X-linked protein ZXDA"
FT /id="PRO_0000047776"
FT ZN_FING 267..291
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 300..324
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 330..354
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 360..382
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 389..413
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 420..444
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 450..474
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 480..504
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 510..534
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 543..568
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 267..573
FT /note="Required for interaction with ZXDC"
FT /evidence="ECO:0000269|PubMed:17493635"
FT REGION 572..699
FT /note="Required for transcriptional activation"
FT VARIANT 202
FT /note="R -> G (in dbSNP:rs139564495)"
FT /evidence="ECO:0000269|PubMed:26566883"
FT /id="VAR_076439"
FT VARIANT 376
FT /note="G -> S (in dbSNP:rs1057327)"
FT /id="VAR_033002"
SQ SEQUENCE 799 AA; 84771 MW; 112BF6C6D0CAA670 CRC64;
MEIPKLLPAR GTLQGGGGGG IPAGGGRVHR GPDSPAGQVP TRRLLLPRGP QDGGPGRRRE
EASTASRGPG PSLFAPRPHQ PSGGGDDFFL VLLDPVGGDV ETAGSGQAAG PVLREEAKAG
PGLQGDESGA NPAGCSAQGP HCLSAVPTPA PISAPGPAAA FAGTVTIHNQ DLLLRFENGV
LTLATPPPHA WEPGAAPAQQ PRCLIAPQAG FPQAAHPGDC PELRSDLLLA EPAEPAPAPA
PQEEAEGLAA ALGPRGLLGS GPGVVLYLCP EALCGQTFAK KHQLKMHLLT HSSSQGQRPF
KCPLGGCGWT FTTSYKLKRH LQSHDKLRPF GCPAEGCGKS FTTVYNLKAH MKGHEQENSF
KCEVCEESFP TQAKLGAHQR SHFEPERPYQ CAFSGCKKTF ITVSALFSHN RAHFREQELF
SCSFPGCSKQ YDKACRLKIH LRSHTGERPF LCDFDGCGWN FTSMSKLLRH KRKHDDDRRF
MCPVEGCGKS FTRAEHLKGH SITHLGTKPF VCPVAGCCAR FSARSSLYIH SKKHLQDVDT
WKSRCPISSC NKLFTSKHSM KTHMVKRHKV GQDLLAQLEA ANSLTPSSEL TSQRQNDLSD
AEIVSLFSDV PDSTSAALLD TALVNSGILT IDVASVSSTL AGHLPANNNN SVGQAVDPPS
LMATSDPPQS LDTSLFFGTA ATGFQQSSLN MDEVSSVSVG PLGSLDSLAM KNSSPEPQAL
TPSSKLTVDT DTLTPSSTLC ENSVSELLTP AKAEWSVHPN SDFFGQEGET QFGFPNAAGN
HGSQKERNLI TVTGSSFLV
