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Protein

Transcription factor GATA-6

Gene

GATA6

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

Functioni

Transcriptional activator that regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity).By similarity3 Publications

Regions

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

GO - Molecular functioni

GO - Biological processi

  • blood coagulation Source: Reactome
  • cardiac muscle cell differentiation Source: Ensembl
  • cardiac muscle hypertrophy in response to stress Source: Ensembl
  • cardiac vascular smooth muscle cell differentiation Source: UniProtKB
  • cell development Source: GO_Central
  • cell fate commitment Source: GO_Central
  • cellular protein metabolic process Source: Reactome
  • cellular response to BMP stimulus Source: Ensembl
  • cellular response to gonadotropin stimulus Source: Ensembl
  • cellular response to hypoxia Source: UniProtKB
  • Clara cell differentiation Source: Ensembl
  • endodermal cell fate determination Source: Ensembl
  • intestinal epithelial cell differentiation Source: MGI
  • in utero embryonic development Source: Ensembl
  • liver development Source: Ensembl
  • lung saccule development Source: Ensembl
  • male gonad development Source: UniProtKB
  • negative regulation of apoptotic process Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • negative regulation of transforming growth factor beta1 production Source: UniProtKB
  • negative regulation of transforming growth factor beta2 production Source: UniProtKB
  • organ formation Source: Ensembl
  • outflow tract septum morphogenesis Source: BHF-UCL
  • pancreatic A cell differentiation Source: Ensembl
  • phospholipid metabolic process Source: Ensembl
  • positive regulation of angiogenesis Source: UniProtKB
  • positive regulation of BMP signaling pathway Source: GO_Central
  • positive regulation of cardiac muscle cell proliferation Source: Ensembl
  • positive regulation of cardioblast differentiation Source: Ensembl
  • positive regulation of cell cycle arrest Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • response to drug Source: UniProtKB
  • response to estrogen Source: Ensembl
  • response to growth factor Source: UniProtKB
  • smooth muscle cell differentiation Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: BHF-UCL
  • tube morphogenesis Source: Ensembl
  • type B pancreatic cell differentiation Source: Ensembl
  • Type II pneumocyte 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

ReactomeiR-HSA-5683826. Surfactant metabolism.
R-HSA-983231. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:4174. GATA6.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • transcription factor complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Conotruncal heart malformations (CTHM)1 Publication
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 (PubMed:19666519).1 Publication
Disease descriptionA 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.
See also OMIM:217095
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti466 – 4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906813 [ dbSNP | Ensembl ].
VAR_067388
Atrial septal defect 9 (ASD9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614475
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906816 [ dbSNP | Ensembl ].
VAR_067382
Tetralogy of Fallot (TOF)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:187500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906816 [ dbSNP | Ensembl ].
VAR_067382
Natural varianti198 – 1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 Publication
Corresponds to variant rs387906814 [ dbSNP | Ensembl ].
VAR_067383
Atrioventricular septal defect 5 (AVSD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614474
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781A → V in AVSD5; increased transcriptional activity. 1 Publication
Corresponds to variant rs387906815 [ dbSNP | Ensembl ].
VAR_067381
Pancreatic agenesis and congenital heart defects (PACHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:600001
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti452 – 4521T → A in PACHD. 1 Publication
Corresponds to variant rs387906817 [ dbSNP | Ensembl ].
VAR_067384
Natural varianti456 – 4561R → C in PACHD; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906818 [ dbSNP | Ensembl ].
VAR_067385
Natural varianti456 – 4561R → H in PACHD. 1 Publication
Corresponds to variant rs387906819 [ dbSNP | Ensembl ].
VAR_067386
Natural varianti466 – 4661N → D in PACHD; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906813 [ dbSNP | Ensembl ].
VAR_067387
Natural varianti467 – 4671A → T in PACHD; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906820 [ dbSNP | Ensembl ].
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

MalaCardsiGATA6.
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.
1330. Partial atrioventricular canal.
3303. Tetralogy of Fallot.
PharmGKBiPA28589.

Polymorphism and mutation databases

BioMutaiGATA6.
DMDMi215273987.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei268 – 2681PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92908.
MaxQBiQ92908.
PaxDbiQ92908.
PeptideAtlasiQ92908.
PRIDEiQ92908.

PTM databases

iPTMnetiQ92908.
PhosphoSiteiQ92908.

Expressioni

Tissue specificityi

Expressed in heart, gut and gut-derived tissues.

Gene expression databases

BgeeiENSG00000141448.
CleanExiHS_GATA6.
GenevisibleiQ92908. HS.

Organism-specific databases

HPAiCAB011581.

Interactioni

Subunit structurei

Interacts with LMCD1.By similarity

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB
  • RNA polymerase II transcription factor binding Source: GO_Central
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108897. 7 interactions.
IntActiQ92908. 3 interactions.
MINTiMINT-3379576.
STRINGi9606.ENSP00000269216.

Structurei

3D structure databases

ProteinModelPortaliQ92908.
SMRiQ92908. Positions 386-494.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

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

Domaini

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

Sequence similaritiesi

Contains 2 GATA-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

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

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ92908.
KOiK17897.
OMAiGAHPGWP.
OrthoDBiEOG091G0AUR.
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. AlignAdd to basket

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

        10         20         30         40         50
MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG
60 70 80 90 100
ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA
110 120 130 140 150
GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT
160 170 180 190 200
LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG
210 220 230 240 250
LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG
260 270 280 290 300
GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL
310 320 330 340 350
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP
360 370 380 390 400
AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL
410 420 430 440 450
WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT
460 470 480 490 500
TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK
510 520 530 540 550
SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG
560 570 580 590
ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti281 – 2811G → V in CAA64997 (PubMed:9294001).Curated

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
Corresponds to variant rs387906815 [ dbSNP | Ensembl ].
VAR_067381
Natural varianti184 – 1841S → N in ASD9 and TOF; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906816 [ dbSNP | Ensembl ].
VAR_067382
Natural varianti198 – 1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 Publication
Corresponds to variant rs387906814 [ dbSNP | Ensembl ].
VAR_067383
Natural varianti452 – 4521T → A in PACHD. 1 Publication
Corresponds to variant rs387906817 [ dbSNP | Ensembl ].
VAR_067384
Natural varianti456 – 4561R → C in PACHD; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906818 [ dbSNP | Ensembl ].
VAR_067385
Natural varianti456 – 4561R → H in PACHD. 1 Publication
Corresponds to variant rs387906819 [ dbSNP | Ensembl ].
VAR_067386
Natural varianti466 – 4661N → D in PACHD; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906813 [ dbSNP | Ensembl ].
VAR_067387
Natural varianti466 – 4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906813 [ dbSNP | Ensembl ].
VAR_067388
Natural varianti467 – 4671A → T in PACHD; loss of transcriptional activity. 1 Publication
Corresponds to variant rs387906820 [ dbSNP | Ensembl ].
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. 3 PublicationsVSP_035778Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
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]

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:
EMBLi
GenBanki
DDBJi
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]
UniGeneiHs.514746.
Hs.741506.

3D structure databases

ProteinModelPortaliQ92908.
SMRiQ92908. Positions 386-494.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108897. 7 interactions.
IntActiQ92908. 3 interactions.
MINTiMINT-3379576.
STRINGi9606.ENSP00000269216.

PTM databases

iPTMnetiQ92908.
PhosphoSiteiQ92908.

Polymorphism and mutation databases

BioMutaiGATA6.
DMDMi215273987.

Proteomic databases

EPDiQ92908.
MaxQBiQ92908.
PaxDbiQ92908.
PeptideAtlasiQ92908.
PRIDEiQ92908.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2627.
GeneCardsiGATA6.
H-InvDBHIX0039732.
HGNCiHGNC:4174. GATA6.
HPAiCAB011581.
MalaCardsiGATA6.
MIMi187500. phenotype.
217095. phenotype.
600001. phenotype.
601656. gene.
614474. phenotype.
614475. phenotype.
neXtProtiNX_Q92908.
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.
1330. Partial atrioventricular canal.
3303. Tetralogy of Fallot.
PharmGKBiPA28589.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000047700.
HOVERGENiHBG051703.
InParanoidiQ92908.
KOiK17897.
OMAiGAHPGWP.
OrthoDBiEOG091G0AUR.
PhylomeDBiQ92908.
TreeFamiTF315391.

Enzyme and pathway databases

ReactomeiR-HSA-5683826. Surfactant metabolism.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.
SignaLinkiQ92908.

Miscellaneous databases

ChiTaRSiGATA6. human.
GeneWikiiGATA6.
GenomeRNAii2627.
PROiQ92908.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141448.
CleanExiHS_GATA6.
GenevisibleiQ92908. HS.

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]
ProtoNetiSearch...

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 7, 2016
This is version 146 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

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.