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SMAD family member 6

Summary

UniProt ID

O43541

Gene Symbol

MADH6
SMAD6

Gene ID

[4091]

Organism

Homo sapiens (human)

External Links

GlyGen: O43541
PubChem: O43541
The Human Metabolome Database: HMDBP14504
The O-GlcNAc Database: O43541
Re-Glyco: O43541

Annotation

Keyword: Alternative splicing Craniosynostosis Disease variant Isopeptide bond Metal-binding Methylation Nucleus Phosphoprotein Proteomics identification Reference proteome Transcription regulation Ubl conjugation Zinc

Gene Ontology (GO)

Displaying entries **1 - 5** of 42 in total

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GO Term	Evidence Code	Reference
ureteric bud development	IEA	GO_REF
outflow tract septum morphogenesis	ISS	GO_REF
outflow tract septum morphogenesis	IEA	GO_REF
aortic valve morphogenesis	IMP	PMID
mitral valve morphogenesis	ISS	GO_REF

GO Hierarchy

biological process

immune system process [inference]

immune response

cellular process [inference]

cell adhesion [inference]

cell-substrate adhesion

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

BMP signaling pathway

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

SMAD protein signal transduction

cellular developmental process [inference]

cell differentiation

fat cell differentiation

multicellular organismal process [inference]

pattern specification process [inference]

axis specification [inference]

embryonic axis specification [inference]

zygotic specification of dorsal/ventral axis

dorsal/ventral axis specification [inference]

zygotic specification of dorsal/ventral axis

embryonic pattern specification [inference]

embryonic axis specification [inference]

zygotic specification of dorsal/ventral axis

developmental process [inference]

anatomical structure morphogenesis

heart valve morphogenesis [inference]

aortic valve morphogenesis

atrioventricular valve morphogenesis [inference]

mitral valve morphogenesis

pulmonary valve morphogenesis

cardiac septum morphogenesis [inference]

outflow tract septum morphogenesis

anatomical structure development [inference]

blood vessel development [inference]

artery development [inference]

aorta development

coronary vasculature development

cardiac septum development [inference]

ventricular septum development

tissue development [inference]

epithelium development [inference]

kidney epithelium development [inference]

mesonephric epithelium development [inference]

mesonephric tubule development [inference]

ureteric bud development

tube development [inference]

mesonephric tubule development [inference]

ureteric bud development

cellular developmental process [inference]

cell differentiation

fat cell differentiation

response to stimulus [inference]

response to stress [inference]

response to fluid shear stress [inference]

response to laminar fluid shear stress

immune response

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to molecule of bacterial origin [inference]

response to lipopolysaccharide

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to molecule of bacterial origin [inference]

response to lipopolysaccharide

response to endogenous stimulus [inference]

response to hormone [inference]

response to estrogen

response to chemical [inference]

response to hormone [inference]

response to estrogen

response to lipid [inference]

response to lipopolysaccharide

response to oxygen-containing compound [inference]

response to lipopolysaccharide

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway

regulation of BMP signaling pathway [inference]

negative regulation of BMP signaling pathway

regulation of activin receptor signaling pathway [inference]

negative regulation of activin receptor signaling pathway

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of intracellular signal transduction [inference]

regulation of SMAD protein signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

negative regulation of cell differentiation [inference]

negative regulation of osteoblast differentiation

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of cellular response to growth factor stimulus [inference]

negative regulation of BMP signaling pathway

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of osteoblast differentiation

negative regulation of multicellular organismal process [inference]

negative regulation of ossification

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway

regulation of BMP signaling pathway [inference]

negative regulation of BMP signaling pathway

regulation of activin receptor signaling pathway [inference]

negative regulation of activin receptor signaling pathway

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of intracellular signal transduction [inference]

regulation of SMAD protein signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of cellular response to growth factor stimulus [inference]

negative regulation of BMP signaling pathway

regulation of cellular response to growth factor stimulus [inference]

regulation of BMP signaling pathway [inference]

negative regulation of BMP signaling pathway

negative regulation of cellular response to growth factor stimulus [inference]

negative regulation of BMP signaling pathway

regulation of cellular response to transforming growth factor beta stimulus [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway

regulation of developmental process [inference]

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

negative regulation of osteoblast differentiation

regulation of osteoblast differentiation [inference]

negative regulation of osteoblast differentiation

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

negative regulation of osteoblast differentiation

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

BMP signaling pathway

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

SMAD protein signal transduction

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of transforming growth factor beta receptor signaling pathway [inference]

negative regulation of transforming growth factor beta receptor signaling pathway

regulation of BMP signaling pathway [inference]

negative regulation of BMP signaling pathway

regulation of activin receptor signaling pathway [inference]

negative regulation of activin receptor signaling pathway

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

regulation of intracellular signal transduction [inference]

regulation of SMAD protein signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

regulation of miRNA metabolic process [inference]

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

regulation of miRNA metabolic process [inference]

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of miRNA transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

negative regulation of osteoblast differentiation

regulation of osteoblast differentiation [inference]

negative regulation of osteoblast differentiation

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of miRNA transcription

positive regulation of miRNA metabolic process [inference]

positive regulation of miRNA transcription

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of SMAD protein signal transduction

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

negative regulation of cell differentiation [inference]

negative regulation of osteoblast differentiation

regulation of multicellular organismal process [inference]

regulation of ossification [inference]

negative regulation of ossification

negative regulation of multicellular organismal process [inference]

negative regulation of ossification

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GO Term	Evidence Code	Reference
chromatin	ISA	GO_REF
nucleus	IDA	PMID PMID
nucleus	IEA	GO_REF
nucleoplasm	IDA	GO_REF
nucleoplasm	IEA	GO_REF

GO Hierarchy

cellular component

protein-containing complex

transcription regulator complex [inference]

RNA polymerase II transcription regulator complex [inference]

heteromeric SMAD protein complex

SMAD protein complex [inference]

heteromeric SMAD protein complex

nuclear protein-containing complex [inference]

RNA polymerase II transcription regulator complex [inference]

heteromeric SMAD protein complex

cellular anatomical structure [inference]

microtubule organizing center [inference]

ciliary basal body

cytosol

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

intracellular membrane-bounded organelle [inference]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

nuclear body

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular membraneless organelle [inference]

nuclear body

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	Reference
transcription cis-regulatory region binding	IDA	PMID
chromatin binding	IDA	PMID
ubiquitin protein ligase binding	IPI	PMID
type I transforming growth factor beta receptor binding	IDA	PMID
type I transforming growth factor beta receptor binding	IEA	GO_REF

GO Hierarchy

molecular function

binding [inference]

nucleic acid binding [inference]

transcription regulatory region nucleic acid binding [inference]

transcription cis-regulatory region binding

DNA binding [inference]

double-stranded DNA binding [inference]

sequence-specific double-stranded DNA binding [inference]

transcription cis-regulatory region binding

sequence-specific DNA binding [inference]

sequence-specific double-stranded DNA binding [inference]

transcription cis-regulatory region binding

chromatin binding

protein binding [inference]

signaling receptor binding [inference]

cytokine receptor binding [inference]

transforming growth factor beta receptor binding [inference]

type I transforming growth factor beta receptor binding

receptor serine/threonine kinase binding [inference]

transmembrane receptor protein serine/threonine kinase binding [inference]

activin receptor binding [inference]

type I activin receptor binding

enzyme binding [inference]

ubiquitin-like protein ligase binding [inference]

ubiquitin protein ligase binding

identical protein binding

SMAD binding [inference]

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

molecular function regulator activity [inference]

molecular function inhibitor activity [inference]

transcription regulator inhibitor activity

molecular sequestering activity [inference]

protein sequestering activity

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAPGGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEILLNNPR

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 3** entries
Position	PubMed ID	GlyTouCan ID	Source
258			GlyGen
385	31492838	G49108TO	The O-GlcNAc Database
394	31492838	G49108TO	The O-GlcNAc Database

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
RUNX2 regulates bone development	Homo sapiens
Signaling by BMP	Homo sapiens

Disease

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0080334	aortic valve disease 2	Alliance of Genome Resources
DOID:9827	radioulnar synostosis	Alliance of Genome Resources
DOID:0060912	craniosynostosis 7	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

International Collaboration

Acknowledgements