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Q92908

- GATA6_HUMAN

UniProt

Q92908 - GATA6_HUMAN

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Protein
Transcription factor GATA-6
Gene
GATA6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating terminal differentiation and/or proliferation.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri390 – 41425GATA-type 1
Add
BLAST
Zinc fingeri444 – 46825GATA-type 2
Add
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  3. chromatin binding Source: Ensembl
  4. protein binding Source: UniProtKB
  5. protein kinase binding Source: UniProtKB
  6. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB
  7. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  8. transcription factor binding Source: UniProtKB
  9. transcription regulatory region DNA binding Source: UniProtKB
  10. zinc ion binding Source: InterPro

GO - Biological processi

  1. Clara cell differentiation Source: Ensembl
  2. Type II pneumocyte differentiation Source: Ensembl
  3. blood coagulation Source: Reactome
  4. cardiac muscle cell differentiation Source: Ensembl
  5. cardiac muscle hypertrophy in response to stress Source: Ensembl
  6. cardiac vascular smooth muscle cell differentiation Source: UniProtKB
  7. cellular response to BMP stimulus Source: Ensembl
  8. cellular response to gonadotropin stimulus Source: Ensembl
  9. cellular response to hypoxia Source: UniProtKB
  10. endodermal cell fate determination Source: Ensembl
  11. in utero embryonic development Source: Ensembl
  12. intestinal epithelial cell differentiation Source: MGI
  13. liver development Source: Ensembl
  14. lung saccule development Source: Ensembl
  15. male gonad development Source: UniProtKB
  16. negative regulation of apoptotic process Source: UniProtKB
  17. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  18. negative regulation of transcription, DNA-templated Source: UniProtKB
  19. negative regulation of transforming growth factor beta1 production Source: UniProtKB
  20. negative regulation of transforming growth factor beta2 production Source: UniProtKB
  21. organ formation Source: Ensembl
  22. outflow tract septum morphogenesis Source: BHF-UCL
  23. pancreatic A cell differentiation Source: Ensembl
  24. phospholipid metabolic process Source: Ensembl
  25. positive regulation of angiogenesis Source: UniProtKB
  26. positive regulation of cardiac muscle cell proliferation Source: Ensembl
  27. positive regulation of cardioblast differentiation Source: Ensembl
  28. positive regulation of cell cycle arrest Source: UniProtKB
  29. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  30. response to drug Source: UniProtKB
  31. response to estrogen Source: Ensembl
  32. response to growth factor Source: UniProtKB
  33. smooth muscle cell differentiation Source: UniProtKB
  34. transcription from RNA polymerase II promoter Source: BHF-UCL
  35. tube morphogenesis Source: Ensembl
  36. type B pancreatic cell differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinkiQ92908.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor GATA-6
Alternative name(s):
GATA-binding factor 6
Gene namesi
Name:GATA6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:4174. GATA6.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. nucleus Source: UniProtKB
  3. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Note: The disease is caused by mutations affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (1 Publication).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti466 – 4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 Publication
VAR_067388
Atrial septal defect 9 (ASD9) [MIM:614475]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
VAR_067382
Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
VAR_067382
Natural varianti198 – 1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 Publication
VAR_067383
Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781A → V in AVSD5; increased transcriptional activity. 1 Publication
VAR_067381
Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti452 – 4521T → A in PACHD. 1 Publication
VAR_067384
Natural varianti456 – 4561R → C in PACHD; loss of transcriptional activity. 1 Publication
VAR_067385
Natural varianti456 – 4561R → H in PACHD. 1 Publication
VAR_067386
Natural varianti466 – 4661N → D in PACHD; loss of transcriptional activity. 1 Publication
VAR_067387
Natural varianti467 – 4671A → T in PACHD; loss of transcriptional activity. 1 Publication
VAR_067389
Natural varianti473 – 4731K → Q in PACHD; loss of transcriptional activity. 1 Publication
VAR_067390

Keywords - Diseasei

Atrial septal defect, Disease mutation

Organism-specific databases

MIMi187500. phenotype.
217095. phenotype.
600001. phenotype.
614474. phenotype.
614475. phenotype.
Orphaneti99103. Atrial septal defect, ostium secundum type.
99067. Complete atrioventricular canal - ventricle hypoplasia.
2140. Congenital diaphragmatic hernia.
334. Familial atrial fibrillation.
2255. Pancreatic hypoplasia - diabetes - congenital heart disease.
3303. Tetralogy of Fallot.
PharmGKBiPA28589.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 595595Transcription factor GATA-6
PRO_0000083423Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei268 – 2681Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ92908.
PaxDbiQ92908.
PRIDEiQ92908.

PTM databases

PhosphoSiteiQ92908.

Expressioni

Tissue specificityi

Expressed in heart, gut and gut-derived tissues.

Gene expression databases

ArrayExpressiQ92908.
BgeeiQ92908.
CleanExiHS_GATA6.
GenevestigatoriQ92908.

Organism-specific databases

HPAiCAB011581.

Interactioni

Subunit structurei

Interacts with LMCD1 By similarity.

Protein-protein interaction databases

BioGridi108897. 5 interactions.
IntActiQ92908. 3 interactions.
MINTiMINT-3379576.
STRINGi9606.ENSP00000269216.

Structurei

3D structure databases

ProteinModelPortaliQ92908.
SMRiQ92908. Positions 386-494.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi173 – 18311Poly-Ala
Add
BLAST
Compositional biasi324 – 33310Poly-His
Compositional biasi449 – 4535Poly-Thr

Domaini

The GATA-type zinc fingers mediate interaction with LMCD1 By similarity.

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5641.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ92908.
KOiK17897.
OMAiGAHPGWP.
OrthoDBiEOG7CCBRF.
PhylomeDBiQ92908.
TreeFamiTF315391.

Family and domain databases

Gene3Di3.30.50.10. 2 hits.
InterProiIPR008013. GATA_N.
IPR028437. TF_GATA_6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF23. PTHR10071:SF23. 1 hit.
PfamiPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEiPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative initiation. Align

Isoform 1 (identifier: Q92908-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG    50
ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA 100
GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT 150
LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG 200
LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG 250
GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL 300
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP 350
AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL 400
WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT 450
TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK 500
SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG 550
ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA 595
Length:595
Mass (Da):60,033
Last modified:November 25, 2008 - v2
Checksum:iC4D5410916543E0B
GO
Isoform 2 (identifier: Q92908-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: Produced by alternative initiation at Met-147 of isoform 1.

Show »
Length:449
Mass (Da):45,386
Checksum:i2A0C294757CC2E92
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151G → R.3 Publications
Corresponds to variant rs116262672 [ dbSNP | Ensembl ].
VAR_067380
Natural varianti178 – 1781A → V in AVSD5; increased transcriptional activity. 1 Publication
VAR_067381
Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
VAR_067382
Natural varianti198 – 1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 Publication
VAR_067383
Natural varianti452 – 4521T → A in PACHD. 1 Publication
VAR_067384
Natural varianti456 – 4561R → C in PACHD; loss of transcriptional activity. 1 Publication
VAR_067385
Natural varianti456 – 4561R → H in PACHD. 1 Publication
VAR_067386
Natural varianti466 – 4661N → D in PACHD; loss of transcriptional activity. 1 Publication
VAR_067387
Natural varianti466 – 4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 Publication
VAR_067388
Natural varianti467 – 4671A → T in PACHD; loss of transcriptional activity. 1 Publication
VAR_067389
Natural varianti473 – 4731K → Q in PACHD; loss of transcriptional activity. 1 Publication
VAR_067390

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 146146Missing in isoform 2.
VSP_035778Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti281 – 2811G → V in CAA64997. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U66075 mRNA. Translation: AAC50941.1.
X95701 mRNA. Translation: CAA64997.1.
D87811 mRNA. Translation: BAA22621.1.
EF444980 Genomic DNA. Translation: ACA05995.1.
AC091588 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01137.1.
CCDSiCCDS11872.1. [Q92908-1]
RefSeqiNP_005248.2. NM_005257.5. [Q92908-1]
XP_005258305.1. XM_005258248.2. [Q92908-1]
UniGeneiHs.514746.
Hs.741506.

Genome annotation databases

EnsembliENST00000269216; ENSP00000269216; ENSG00000141448. [Q92908-1]
ENST00000581694; ENSP00000462313; ENSG00000141448. [Q92908-1]
GeneIDi2627.
KEGGihsa:2627.
UCSCiuc002ktt.2. human. [Q92908-1]

Polymorphism databases

DMDMi215273987.

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U66075 mRNA. Translation: AAC50941.1 .
X95701 mRNA. Translation: CAA64997.1 .
D87811 mRNA. Translation: BAA22621.1 .
EF444980 Genomic DNA. Translation: ACA05995.1 .
AC091588 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01137.1 .
CCDSi CCDS11872.1. [Q92908-1 ]
RefSeqi NP_005248.2. NM_005257.5. [Q92908-1 ]
XP_005258305.1. XM_005258248.2. [Q92908-1 ]
UniGenei Hs.514746.
Hs.741506.

3D structure databases

ProteinModelPortali Q92908.
SMRi Q92908. Positions 386-494.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108897. 5 interactions.
IntActi Q92908. 3 interactions.
MINTi MINT-3379576.
STRINGi 9606.ENSP00000269216.

PTM databases

PhosphoSitei Q92908.

Polymorphism databases

DMDMi 215273987.

Proteomic databases

MaxQBi Q92908.
PaxDbi Q92908.
PRIDEi Q92908.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000269216 ; ENSP00000269216 ; ENSG00000141448 . [Q92908-1 ]
ENST00000581694 ; ENSP00000462313 ; ENSG00000141448 . [Q92908-1 ]
GeneIDi 2627.
KEGGi hsa:2627.
UCSCi uc002ktt.2. human. [Q92908-1 ]

Organism-specific databases

CTDi 2627.
GeneCardsi GC18P019749.
H-InvDB HIX0039732.
HGNCi HGNC:4174. GATA6.
HPAi CAB011581.
MIMi 187500. phenotype.
217095. phenotype.
600001. phenotype.
601656. gene.
614474. phenotype.
614475. phenotype.
neXtProti NX_Q92908.
Orphaneti 99103. Atrial septal defect, ostium secundum type.
99067. Complete atrioventricular canal - ventricle hypoplasia.
2140. Congenital diaphragmatic hernia.
334. Familial atrial fibrillation.
2255. Pancreatic hypoplasia - diabetes - congenital heart disease.
3303. Tetralogy of Fallot.
PharmGKBi PA28589.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5641.
HOGENOMi HOG000047700.
HOVERGENi HBG051703.
InParanoidi Q92908.
KOi K17897.
OMAi GAHPGWP.
OrthoDBi EOG7CCBRF.
PhylomeDBi Q92908.
TreeFami TF315391.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.
SignaLinki Q92908.

Miscellaneous databases

GeneWikii GATA6.
GenomeRNAii 2627.
NextBioi 10349.
PROi Q92908.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q92908.
Bgeei Q92908.
CleanExi HS_GATA6.
Genevestigatori Q92908.

Family and domain databases

Gene3Di 3.30.50.10. 2 hits.
InterProi IPR008013. GATA_N.
IPR028437. TF_GATA_6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
PANTHERi PTHR10071:SF23. PTHR10071:SF23. 1 hit.
Pfami PF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view ]
PRINTSi PR00619. GATAZNFINGER.
SMARTi SM00401. ZnF_GATA. 2 hits.
[Graphical view ]
PROSITEi PS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals."
    Suzuki E., Evans T., Lowry J., Truong L., Bell D.W., Testa J.R., Walsh K.
    Genomics 38:283-290(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  2. "Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut."
    Huggon I.C., Davies A., Gove C., Moscoso G., Moniz C., Foss Y., Farzaneh F., Towner P.
    Biochim. Biophys. Acta 1353:98-102(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Heart.
  3. "GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 cells."
    Yoshida T., Sato R., Mahmood S., Kawasaki S., Futai M., Maeda M.
    FEBS Lett. 414:333-337(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The human and mouse GATA-6 genes utilize two promoters and two initiation codons."
    Brewer A., Gove C., Davies A., McNulty C., Barrow D., Koutsourakis M., Farzaneh F., Pizzey J., Bomford A., Patient R.
    J. Biol. Chem. 274:38004-38016(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE INITIATION.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-268, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling."
    Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., Takahashi T., Matsuoka R., Yamagishi H.
    Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, CHARACTERIZATION OF VARIANT CTHM HIS-466.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect."
    Lin X., Huo Z., Liu X., Zhang Y., Li L., Zhao H., Yan B., Liu Y., Yang Y., Chen Y.H.
    J. Hum. Genet. 55:662-667(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASD9 ASN-184, VARIANT TOF ASN-184, CHARACTERIZATION OF VARIANT ASD9 ASN-184, VARIANT ARG-15.
  13. "Identification of GATA6 sequence variants in patients with congenital heart defects."
    Maitra M., Koenig S.N., Srivastava D., Garg V.
    Pediatr. Res. 68:281-285(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-15, VARIANT AVSD5 VAL-178, VARIANT TOF VAL-198, CHARACTERIZATION OF VARIANT AVSD5 VAL-178, CHARACTERIZATION OF VARIANT TOF VAL-198.
  14. Cited for: VARIANTS PACHD ALA-452; CYS-456; HIS-456; ASP-466; THR-467 AND GLN-473, CHARACTERIZATION OF VARIANTS PACHD CYS-456; ASP-466; THR-467 AND GLN-473.

Entry informationi

Entry nameiGATA6_HUMAN
AccessioniPrimary (citable) accession number: Q92908
Secondary accession number(s): B0YJ17, P78327
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: September 3, 2014
This is version 124 of the entry and version 2 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 18
    Human chromosome 18: 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

External Data

Dasty 3

Similar proteinsi