Z804A_HUMAN
ID Z804A_HUMAN Reviewed; 1209 AA.
AC Q7Z570; A7E253; Q6ZN26;
DT 18-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 3.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Zinc finger protein 804A;
GN Name=ZNF804A; Synonyms=C2orf10;
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].
RA Shan Y.X., Yu L.;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLY-479 AND ARG-747.
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 1-594, AND VARIANTS LEU-261 AND
RP LYS-542.
RC TISSUE=Brain;
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 VARIANT [LARGE SCALE ANALYSIS] SER-324.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
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DR EMBL; AY327407; AAP92799.1; -; mRNA.
DR EMBL; AC010747; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC112720; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC096667; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC150198; AAI50199.1; -; mRNA.
DR EMBL; AK131402; BAD18549.1; -; mRNA.
DR CCDS; CCDS2291.1; -.
DR RefSeq; NP_919226.1; NM_194250.1.
DR AlphaFoldDB; Q7Z570; -.
DR SMR; Q7Z570; -.
DR BioGRID; 124875; 5.
DR IntAct; Q7Z570; 5.
DR STRING; 9606.ENSP00000303252; -.
DR GlyGen; Q7Z570; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q7Z570; -.
DR PhosphoSitePlus; Q7Z570; -.
DR BioMuta; ZNF804A; -.
DR DMDM; 224471869; -.
DR EPD; Q7Z570; -.
DR jPOST; Q7Z570; -.
DR MassIVE; Q7Z570; -.
DR PaxDb; Q7Z570; -.
DR PeptideAtlas; Q7Z570; -.
DR PRIDE; Q7Z570; -.
DR ProteomicsDB; 69261; -.
DR Antibodypedia; 33997; 27 antibodies from 10 providers.
DR DNASU; 91752; -.
DR Ensembl; ENST00000302277.7; ENSP00000303252.6; ENSG00000170396.9.
DR GeneID; 91752; -.
DR KEGG; hsa:91752; -.
DR MANE-Select; ENST00000302277.7; ENSP00000303252.6; NM_194250.2; NP_919226.1.
DR UCSC; uc002uph.4; human.
DR CTD; 91752; -.
DR DisGeNET; 91752; -.
DR GeneCards; ZNF804A; -.
DR HGNC; HGNC:21711; ZNF804A.
DR HPA; ENSG00000170396; Tissue enhanced (brain, retina).
DR MIM; 612282; gene.
DR neXtProt; NX_Q7Z570; -.
DR OpenTargets; ENSG00000170396; -.
DR PharmGKB; PA162410599; -.
DR VEuPathDB; HostDB:ENSG00000170396; -.
DR eggNOG; ENOG502QQR4; Eukaryota.
DR GeneTree; ENSGT00940000160909; -.
DR HOGENOM; CLU_276771_0_0_1; -.
DR InParanoid; Q7Z570; -.
DR OMA; DHRCLVL; -.
DR OrthoDB; 332880at2759; -.
DR PhylomeDB; Q7Z570; -.
DR TreeFam; TF332138; -.
DR PathwayCommons; Q7Z570; -.
DR SignaLink; Q7Z570; -.
DR BioGRID-ORCS; 91752; 12 hits in 1072 CRISPR screens.
DR ChiTaRS; ZNF804A; human.
DR GeneWiki; Zinc_finger_protein_804A; -.
DR GenomeRNAi; 91752; -.
DR Pharos; Q7Z570; Tbio.
DR PRO; PR:Q7Z570; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q7Z570; protein.
DR Bgee; ENSG00000170396; Expressed in ganglionic eminence and 100 other tissues.
DR Genevisible; Q7Z570; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:1901588; C:dendritic microtubule; IDA:UniProtKB.
DR GO; GO:0043198; C:dendritic shaft; IDA:UniProtKB.
DR GO; GO:0043197; C:dendritic spine; IDA:UniProtKB.
DR GO; GO:0030426; C:growth cone; IDA:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0098794; C:postsynapse; IDA:UniProtKB.
DR GO; GO:0098793; C:presynapse; IEA:Ensembl.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:1902952; P:positive regulation of dendritic spine maintenance; IEA:Ensembl.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
DR GO; GO:0010976; P:positive regulation of neuron projection development; IMP:UniProtKB.
DR GO; GO:0010975; P:regulation of neuron projection development; IGI:UniProtKB.
DR InterPro; IPR022755; Znf_C2H2_jaz.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF12171; zf-C2H2_jaz; 1.
DR SUPFAM; SSF57667; SSF57667; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 1.
PE 2: Evidence at transcript level;
KW Metal-binding; Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1..1209
FT /note="Zinc finger protein 804A"
FT /id="PRO_0000232518"
FT ZN_FING 57..81
FT /note="C2H2-type"
FT REGION 380..401
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 792..860
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 820..834
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 261
FT /note="Q -> L (in dbSNP:rs12476147)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_025943"
FT VARIANT 324
FT /note="N -> S (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035599"
FT VARIANT 479
FT /note="D -> G (in dbSNP:rs35676856)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_054133"
FT VARIANT 542
FT /note="E -> K (in dbSNP:rs4667001)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_025944"
FT VARIANT 600
FT /note="K -> R (in dbSNP:rs35925696)"
FT /id="VAR_054134"
FT VARIANT 707
FT /note="T -> K (in dbSNP:rs1366842)"
FT /id="VAR_025945"
FT VARIANT 747
FT /note="H -> R (in dbSNP:rs12477430)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_025946"
FT VARIANT 1081
FT /note="L -> V (in dbSNP:rs3731834)"
FT /id="VAR_025947"
FT VARIANT 1152
FT /note="G -> R (in dbSNP:rs12105159)"
FT /id="VAR_054135"
FT CONFLICT 492
FT /note="I -> V (in Ref. 3; AAI50199)"
FT /evidence="ECO:0000305"
FT CONFLICT 545
FT /note="G -> S (in Ref. 3; AAI50199)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1209 AA; 136888 MW; 467982636EF1DFC0 CRC64;
MECYYIVISS THLSNGHFRN IKGVFRGPLS KNGNKTLDYA EKENTIAKAL EDLKANFYCE
LCDKQYYKHQ EFDNHINSYD HAHKQRLKEL KQREFARNVA SKSRKDERKQ EKALQRLHKL
AELRKETVCA PGSGPMFKST TVTVRENCNE ISQRVVVDSV NNQQDFKYTL IHSEENTKDA
TTVAEDPESA NNYTAKNNQV GDQAQGIHRH KIGFSFAFPK KASVKLESSA AAFSEYSDDA
SVGKGFSRKS RFVPSACHLQ QSSPTDVLLS SEEKTNSFHP PEAMCRDKET VQTQEIKEVS
SEKDALLLPS FCKFQLQLSS DADNCQNSVP LADQIPLESV VINEDIPVSG NSFELLGNKS
TVLDMSNDCI SVQATTEENV KHNEASTTEV ENKNGPETLA PSNTEEVNIT IHKKTNFCKR
QCEPFVPVLN KHRSTVLQWP SEMLVYTTTK PSISYSCNPL CFDFKSTKVN NNLDKNKPDL
KDLCSQQKQE DICMGPLSDY KDVSTEGLTD YEIGSSKNKC SQVTPLLADD ILSSSCDSGK
NENTGQRYKN ISCKIRETEK YNFTKSQIKQ DTLDEKYNKI RLKETHEYWF HKSRRKKKRK
KLCQHHHMEK TKESETRCKM EAENSYTENA GKYLLEPISE KQYLAAEQLL DSHQLLDKRP
KSESISLSDN EEMCKTWNTE YNTYDTISSK NHCKKNTILL NGQSNATMIH SGKHNLTYSR
TYCCWKTKMS SCSQDHRSLV LQNDMKHMSQ NQAVKRGYNS VMNESERFYR KRRQHSHSYS
SDESLNRQNH LPEEFLRPPS TSVAPCKPKK KRRRKRGRFH PGFETLELKE NTDYPVKDNS
SLNPLDRLIS EDKKEKMKPQ EVAKIERNSE QTNQLRNKLS FHPNNLLPSE TNGETEHLEM
ETTSGELSDV SNDPTTSVCV ASAPTKEAID NTLLEHKERS ENINLNEKQI PFQVPNIERN
FRQSQPKSYL CHYELAEALP QGKMNETPTE WLRYNSGILN TQPPLPFKEA HVSGHTFVTA
EQILAPLALP EQALLIPLEN HDKFKNVPCE VYQHILQPNM LANKVKFTFP PAALPPPSTP
LQPLPLQQSL CSTSVTTIHH TVLQQHAAAA AAAAAAAAAG TFKVLQPHQQ FLSQIPALTR
TSLPQLSVGP VGPRLCPGNQ PTFVAPPQMP IIPASVLHPS HLAFPSLPHA LFPSLLSPHP
TVIPLQPLF
