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Protein

GATA zinc finger domain-containing protein 1

Gene

GATAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me).1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri9 – 3325GATA-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
GATA zinc finger domain-containing protein 1
Alternative name(s):
Ocular development-associated gene protein
Gene namesi
Name:GATAD1
Synonyms:ODAG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:29941. GATAD1.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 2B (CMD2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:614672
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1021S → P in CMD2B. 1 Publication
Corresponds to variant rs387907188 [ dbSNP | Ensembl ].
VAR_068556

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MalaCardsiGATAD1.
MIMi614672. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA142671745.

Polymorphism and mutation databases

BioMutaiGATAD1.
DMDMi74730762.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 269269GATA zinc finger domain-containing protein 1PRO_0000288909Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki262 – 262Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ8WUU5.
MaxQBiQ8WUU5.
PaxDbiQ8WUU5.
PeptideAtlasiQ8WUU5.
PRIDEiQ8WUU5.

PTM databases

iPTMnetiQ8WUU5.
PhosphoSiteiQ8WUU5.

Expressioni

Tissue specificityi

Ubiquitously expressed among various tissue types. Expressed in left ventricular myocytes.1 Publication

Gene expression databases

BgeeiQ8WUU5.
CleanExiHS_GATAD1.
GenevisibleiQ8WUU5. HS.

Organism-specific databases

HPAiHPA006105.

Interactioni

Subunit structurei

Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY.1 Publication

Protein-protein interaction databases

BioGridi121770. 22 interactions.
IntActiQ8WUU5. 14 interactions.
STRINGi9606.ENSP00000287957.

Structurei

3D structure databases

ProteinModelPortaliQ8WUU5.
SMRiQ8WUU5. Positions 7-46.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi35 – 8147Gly-richAdd
BLAST

Sequence similaritiesi

Contains 1 GATA-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri9 – 3325GATA-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IGNZ. Eukaryota.
ENOG410XR16. LUCA.
GeneTreeiENSGT00390000018554.
HOGENOMiHOG000039281.
HOVERGENiHBG067032.
InParanoidiQ8WUU5.
OMAiQGEILCN.
OrthoDBiEOG7Q2N6N.
PhylomeDBiQ8WUU5.
TreeFamiTF325354.

Family and domain databases

Gene3Di3.30.50.10. 1 hit.
InterProiIPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PROSITEiPS50114. GATA_ZN_FINGER_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8WUU5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPLGLKPTCS VCKTTSSSMW KKGAQGEILC HHCTGRGGAG SGGAGSGAAG
60 70 80 90 100
GTGGSGGGGF GAATFASTSA TPPQSNGGGG GKQSKQEIHR RSARLRNTKY
110 120 130 140 150
KSAPAAEKKV STKGKGRRHI FKLKNPIKAP ESVSTIITAE SIFYKGVYYQ
160 170 180 190 200
IGDVVSVIDE QDGKPYYAQI RGFIQDQYCE KSAALTWLIP TLSSPRDQFD
210 220 230 240 250
PASYIIGPEE DLPRKMEYLE FVCHAPSEYF KSRSSPFPTV PTRPEKGYIW
260
THVGPTPAIT IKESVANHL
Length:269
Mass (Da):28,690
Last modified:March 1, 2002 - v1
Checksum:i7DFA569A731D9003
GO

Sequence cautioni

The sequence AAB46345.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti255 – 2551P → S in BAB15374 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541G → S.2 Publications
Corresponds to variant rs10281879 [ dbSNP | Ensembl ].
VAR_032533
Natural varianti102 – 1021S → P in CMD2B. 1 Publication
Corresponds to variant rs387907188 [ dbSNP | Ensembl ].
VAR_068556
Natural varianti233 – 2331R → W.1 Publication
Corresponds to variant rs34768413 [ dbSNP | Ensembl ].
VAR_068557

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026142 mRNA. Translation: BAB15374.1.
AK315788 mRNA. Translation: BAG38134.1.
AC000064 Genomic DNA. Translation: AAB46345.1. Sequence problems.
CH236949 Genomic DNA. Translation: EAL24150.1.
CH471091 Genomic DNA. Translation: EAW76850.1.
CH471091 Genomic DNA. Translation: EAW76851.1.
BC019350 mRNA. Translation: AAH19350.1.
BC031091 mRNA. Translation: AAH31091.1.
CCDSiCCDS5625.1.
RefSeqiNP_066990.3. NM_021167.4.
UniGeneiHs.21145.

Genome annotation databases

EnsembliENST00000287957; ENSP00000287957; ENSG00000157259.
GeneIDi57798.
KEGGihsa:57798.
UCSCiuc003ulx.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026142 mRNA. Translation: BAB15374.1.
AK315788 mRNA. Translation: BAG38134.1.
AC000064 Genomic DNA. Translation: AAB46345.1. Sequence problems.
CH236949 Genomic DNA. Translation: EAL24150.1.
CH471091 Genomic DNA. Translation: EAW76850.1.
CH471091 Genomic DNA. Translation: EAW76851.1.
BC019350 mRNA. Translation: AAH19350.1.
BC031091 mRNA. Translation: AAH31091.1.
CCDSiCCDS5625.1.
RefSeqiNP_066990.3. NM_021167.4.
UniGeneiHs.21145.

3D structure databases

ProteinModelPortaliQ8WUU5.
SMRiQ8WUU5. Positions 7-46.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121770. 22 interactions.
IntActiQ8WUU5. 14 interactions.
STRINGi9606.ENSP00000287957.

PTM databases

iPTMnetiQ8WUU5.
PhosphoSiteiQ8WUU5.

Polymorphism and mutation databases

BioMutaiGATAD1.
DMDMi74730762.

Proteomic databases

EPDiQ8WUU5.
MaxQBiQ8WUU5.
PaxDbiQ8WUU5.
PeptideAtlasiQ8WUU5.
PRIDEiQ8WUU5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287957; ENSP00000287957; ENSG00000157259.
GeneIDi57798.
KEGGihsa:57798.
UCSCiuc003ulx.3. human.

Organism-specific databases

CTDi57798.
GeneCardsiGATAD1.
HGNCiHGNC:29941. GATAD1.
HPAiHPA006105.
MalaCardsiGATAD1.
MIMi614518. gene.
614672. phenotype.
neXtProtiNX_Q8WUU5.
Orphaneti154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA142671745.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGNZ. Eukaryota.
ENOG410XR16. LUCA.
GeneTreeiENSGT00390000018554.
HOGENOMiHOG000039281.
HOVERGENiHBG067032.
InParanoidiQ8WUU5.
OMAiQGEILCN.
OrthoDBiEOG7Q2N6N.
PhylomeDBiQ8WUU5.
TreeFamiTF325354.

Miscellaneous databases

GenomeRNAii57798.
PROiQ8WUU5.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WUU5.
CleanExiHS_GATAD1.
GenevisibleiQ8WUU5. HS.

Family and domain databases

Gene3Di3.30.50.10. 1 hit.
InterProiIPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PROSITEiPS50114. GATA_ZN_FINGER_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Trachea.
  2. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-54.
    Tissue: Brain and Uterus.
  6. "Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers."
    Vermeulen M., Eberl H.C., Matarese F., Marks H., Denissov S., Butter F., Lee K.K., Olsen J.V., Hyman A.A., Stunnenberg H.G., Mann M.
    Cell 142:967-980(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN SOME CHROMATIN COMPLEX, FUNCTION.
  7. "Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy."
    Theis J.L., Sharpe K.M., Matsumoto M.E., Chai H.S., Nair A.A., Theis J.D., de Andrade M., Wieben E.D., Michels V.V., Olson T.M.
    Circ. Cardiovasc. Genet. 4:585-594(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT CMD2B PRO-102, VARIANTS SER-54 AND TRP-233.
  8. "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability."
    Xiao Z., Chang J.G., Hendriks I.A., Sigurdsson J.O., Olsen J.V., Vertegaal A.C.
    Mol. Cell. Proteomics 14:1419-1434(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-262, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGATD1_HUMAN
AccessioniPrimary (citable) accession number: Q8WUU5
Secondary accession number(s): B2RE37
, D6W5Q5, Q8N5Y5, Q99995, Q9H689
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: March 1, 2002
Last modified: July 6, 2016
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.