GATD1_HUMAN
ID GATD1_HUMAN Reviewed; 269 AA.
AC Q8WUU5; B2RE37; D6W5Q5; Q8N5Y5; Q99995; Q9H689;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=GATA zinc finger domain-containing protein 1;
DE AltName: Full=Ocular development-associated gene protein;
GN Name=GATAD1; Synonyms=ODAG;
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 MRNA].
RC TISSUE=Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-54.
RC TISSUE=Brain, and Uterus;
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 [6]
RP IDENTIFICATION IN SOME CHROMATIN COMPLEX, AND FUNCTION.
RX PubMed=20850016; DOI=10.1016/j.cell.2010.08.020;
RA Vermeulen M., Eberl H.C., Matarese F., Marks H., Denissov S., Butter F.,
RA Lee K.K., Olsen J.V., Hyman A.A., Stunnenberg H.G., Mann M.;
RT "Quantitative interaction proteomics and genome-wide profiling of
RT epigenetic histone marks and their readers.";
RL Cell 142:967-980(2010).
RN [7]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT CMD2B PRO-102, AND
RP VARIANTS SER-54 AND TRP-233.
RX PubMed=21965549; DOI=10.1161/circgenetics.111.961052;
RA Theis J.L., Sharpe K.M., Matsumoto M.E., Chai H.S., Nair A.A., Theis J.D.,
RA de Andrade M., Wieben E.D., Michels V.V., Olson T.M.;
RT "Homozygosity mapping and exome sequencing reveal GATAD1 mutation in
RT autosomal recessive dilated cardiomyopathy.";
RL Circ. Cardiovasc. Genet. 4:585-594(2011).
RN [8]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-262, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25755297; DOI=10.1074/mcp.o114.044792;
RA Xiao Z., Chang J.G., Hendriks I.A., Sigurdsson J.O., Olsen J.V.,
RA Vertegaal A.C.;
RT "System-wide analysis of SUMOylation dynamics in response to replication
RT stress reveals novel small ubiquitin-like modified target proteins and
RT acceptor lysines relevant for genome stability.";
RL Mol. Cell. Proteomics 14:1419-1434(2015).
RN [9]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-262, 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 -!- FUNCTION: Component of some chromatin complex recruited to chromatin
CC sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for
CC trimethylated form (H3K4me3). {ECO:0000269|PubMed:20850016}.
CC -!- SUBUNIT: Component of a chromatin complex, at least composed of KDM5A,
CC GATAD1 and EMSY. {ECO:0000269|PubMed:20850016}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21965549}.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed among various tissue types.
CC Expressed in left ventricular myocytes. {ECO:0000269|PubMed:21965549}.
CC -!- DISEASE: Cardiomyopathy, dilated 2B (CMD2B) [MIM:614672]: A disorder
CC characterized by ventricular dilation and impaired systolic function,
CC resulting in congestive heart failure and arrhythmia. Patients are at
CC risk of premature death. {ECO:0000269|PubMed:21965549}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB46345.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK026142; BAB15374.1; -; mRNA.
DR EMBL; AK315788; BAG38134.1; -; mRNA.
DR EMBL; AC000064; AAB46345.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH236949; EAL24150.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76850.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76851.1; -; Genomic_DNA.
DR EMBL; BC019350; AAH19350.1; -; mRNA.
DR EMBL; BC031091; AAH31091.1; -; mRNA.
DR CCDS; CCDS5625.1; -.
DR RefSeq; NP_066990.3; NM_021167.4.
DR AlphaFoldDB; Q8WUU5; -.
DR BioGRID; 121770; 119.
DR IntAct; Q8WUU5; 40.
DR MINT; Q8WUU5; -.
DR STRING; 9606.ENSP00000287957; -.
DR iPTMnet; Q8WUU5; -.
DR PhosphoSitePlus; Q8WUU5; -.
DR BioMuta; GATAD1; -.
DR DMDM; 74730762; -.
DR EPD; Q8WUU5; -.
DR jPOST; Q8WUU5; -.
DR MassIVE; Q8WUU5; -.
DR MaxQB; Q8WUU5; -.
DR PaxDb; Q8WUU5; -.
DR PeptideAtlas; Q8WUU5; -.
DR PRIDE; Q8WUU5; -.
DR ProteomicsDB; 74711; -.
DR Antibodypedia; 1808; 205 antibodies from 22 providers.
DR DNASU; 57798; -.
DR Ensembl; ENST00000287957.5; ENSP00000287957.3; ENSG00000157259.8.
DR GeneID; 57798; -.
DR KEGG; hsa:57798; -.
DR MANE-Select; ENST00000287957.5; ENSP00000287957.3; NM_021167.5; NP_066990.3.
DR UCSC; uc003ulx.3; human.
DR CTD; 57798; -.
DR DisGeNET; 57798; -.
DR GeneCards; GATAD1; -.
DR HGNC; HGNC:29941; GATAD1.
DR HPA; ENSG00000157259; Low tissue specificity.
DR MalaCards; GATAD1; -.
DR MIM; 614518; gene.
DR MIM; 614672; phenotype.
DR neXtProt; NX_Q8WUU5; -.
DR OpenTargets; ENSG00000157259; -.
DR Orphanet; 154; Familial isolated dilated cardiomyopathy.
DR PharmGKB; PA142671745; -.
DR VEuPathDB; HostDB:ENSG00000157259; -.
DR eggNOG; ENOG502QUY5; Eukaryota.
DR GeneTree; ENSGT00390000018554; -.
DR HOGENOM; CLU_070432_0_0_1; -.
DR InParanoid; Q8WUU5; -.
DR OMA; FYKGVYF; -.
DR OrthoDB; 1259563at2759; -.
DR PhylomeDB; Q8WUU5; -.
DR TreeFam; TF325354; -.
DR PathwayCommons; Q8WUU5; -.
DR SignaLink; Q8WUU5; -.
DR BioGRID-ORCS; 57798; 31 hits in 1079 CRISPR screens.
DR GenomeRNAi; 57798; -.
DR Pharos; Q8WUU5; Tbio.
DR PRO; PR:Q8WUU5; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8WUU5; protein.
DR Bgee; ENSG00000157259; Expressed in left ovary and 198 other tissues.
DR ExpressionAtlas; Q8WUU5; baseline and differential.
DR Genevisible; Q8WUU5; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0006325; P:chromatin organization; IBA:GO_Central.
DR GO; GO:0006338; P:chromatin remodeling; IDA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:InterPro.
DR Gene3D; 3.30.50.10; -; 1.
DR InterPro; IPR039050; GATAD1.
DR InterPro; IPR000679; Znf_GATA.
DR InterPro; IPR013088; Znf_NHR/GATA.
DR PANTHER; PTHR13340; PTHR13340; 1.
DR PROSITE; PS50114; GATA_ZN_FINGER_2; 1.
PE 1: Evidence at protein level;
KW Cardiomyopathy; Disease variant; Isopeptide bond; Metal-binding; Nucleus;
KW Reference proteome; Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..269
FT /note="GATA zinc finger domain-containing protein 1"
FT /id="PRO_0000288909"
FT ZN_FING 9..33
FT /note="GATA-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00094"
FT REGION 63..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 63..82
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CROSSLNK 262
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:25755297,
FT ECO:0007744|PubMed:28112733"
FT VARIANT 54
FT /note="G -> S (in dbSNP:rs10281879)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:21965549"
FT /id="VAR_032533"
FT VARIANT 102
FT /note="S -> P (in CMD2B; dbSNP:rs387907188)"
FT /evidence="ECO:0000269|PubMed:21965549"
FT /id="VAR_068556"
FT VARIANT 233
FT /note="R -> W (in dbSNP:rs34768413)"
FT /evidence="ECO:0000269|PubMed:21965549"
FT /id="VAR_068557"
FT CONFLICT 255
FT /note="P -> S (in Ref. 1; BAB15374)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 269 AA; 28690 MW; 7DFA569A731D9003 CRC64;
MPLGLKPTCS VCKTTSSSMW KKGAQGEILC HHCTGRGGAG SGGAGSGAAG GTGGSGGGGF
GAATFASTSA TPPQSNGGGG GKQSKQEIHR RSARLRNTKY KSAPAAEKKV STKGKGRRHI
FKLKNPIKAP ESVSTIITAE SIFYKGVYYQ IGDVVSVIDE QDGKPYYAQI RGFIQDQYCE
KSAALTWLIP TLSSPRDQFD PASYIIGPEE DLPRKMEYLE FVCHAPSEYF KSRSSPFPTV
PTRPEKGYIW THVGPTPAIT IKESVANHL
