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Protein

Mothers against decapentaplegic homolog 1

Gene

SMAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi64ZincBy similarity1
Metal bindingi109ZincBy similarity1
Metal bindingi121ZincBy similarity1
Metal bindingi126ZincBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-201451 Signaling by BMP
R-HSA-5689880 Ub-specific processing proteases
R-HSA-8941326 RUNX2 regulates bone development

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q15797

SIGNOR Signaling Network Open Resource

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SIGNORi
Q15797

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q15797 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mothers against decapentaplegic homolog 1
Short name:
MAD homolog 1
Short name:
Mothers against DPP homolog 1
Alternative name(s):
JV4-1
Mad-related protein 1
SMAD family member 1
Short name:
SMAD 1
Short name:
Smad1
Short name:
hSMAD1
Transforming growth factor-beta-signaling protein 1
Short name:
BSP-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SMAD1
Synonyms:BSP1, MADH1, MADR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000170365.9

Human Gene Nomenclature Database

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HGNCi
HGNC:6767 SMAD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601595 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15797

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi297D → H: Reduced trimerization. 1 Publication1
Mutagenesisi317V → D: Reduced trimerization. 1 Publication1
Mutagenesisi373K → S: Reduced trimerization. 1 Publication1
Mutagenesisi418K → S: Reduced trimerization. 1 Publication1
Mutagenesisi419G → S: Loss of phosphorylation. 1 Publication1
Mutagenesisi424Y → F: Reduced trimerization. 1 Publication1
Mutagenesisi426R → S: Reduced trimerization. 1 Publication1
Mutagenesisi448D → H: Reduced trimerization. 1 Publication1
Mutagenesisi463 – 465SVS → AVA: Increases interaction with RANBPL3. 1 Publication3
Mutagenesisi463 – 465SVS → DVD: Decreases interaction with RANBPL3. 1 Publication3

Organism-specific databases

DisGeNET

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DisGeNETi
4086

Open Targets

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OpenTargetsi
ENSG00000170365

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30524

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SMAD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13633915

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000908471 – 465Mothers against decapentaplegic homolog 1Add BLAST465

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionine1 Publication1
Modified residuei322Phosphothreonine; by MINK1, TNIK and MAP4K41 Publication1
Modified residuei463PhosphoserinePROSITE-ProRule annotation2 Publications1
Modified residuei465PhosphoserinePROSITE-ProRule annotation2 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation of the C-terminal SVS motif by BMP type 1 receptor kinase activates SMAD1 by promoting dissociation from the receptor and trimerization with SMAD4.3 Publications
Ubiquitinated by SMAD-specific E3 ubiquitin ligase SMURF1, leading to its degradation. Monoubiquitinated, leading to prevent DNA-binding. Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes. Dephosphorylation, probably by PPM1A, induces its export from the nucleus to the cytoplasm (By similarity).By similarity1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15797

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q15797

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15797

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q15797

PeptideAtlas

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PeptideAtlasi
Q15797

PRoteomics IDEntifications database

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PRIDEi
Q15797

ProteomicsDB human proteome resource

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ProteomicsDBi
60766

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15797

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q15797

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Highest expression seen in the heart and skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000170365 Expressed in 241 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

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CleanExi
HS_SMAD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15797 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15797 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB005389

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Found in a complex with SMAD4 and YY1. Interacts with HGS, NANOG and ZCCHC12 (By similarity). Upon C-terminus phosphorylation: forms trimers with another SMAD1 and the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit, CREB-binding protein (CBP), p300, SMURF1, SMURF2, USP15 and HOXC8. Associates with ZNF423 or ZNF521 in response to BMP2 leading to activate transcription of BMP target genes. Interacts with SKOR1. Interacts (via MH2 domain) with LEMD3. Binding to LEMD3 results in at least a partial reduction of receptor-mediated phosphorylation. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the 20S proteasome. Found in a macromolecular complex with FAM83G. Interacts (via MH2 domain) with FAM83G (via MH2 domain); in a SMAD4-independent manner. Interacts with ZC3H3 (By similarity). Interacts with TMEM119 (By similarity). Interacts (via MH1 and MH2 domains) with ZNF8 (By similarity). Interacts with RANBP3L; the interaction increases when SMAD1 is not phosphorylated and mediates SMAD1 nuclear export (PubMed:25755279).By similarity9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110261, 125 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-144 SMAD1 homotrimer
CPX-54 SMAD1-SMAD4 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q15797

Database of interacting proteins

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DIPi
DIP-38538N

Protein interaction database and analysis system

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IntActi
Q15797, 81 interactors

Molecular INTeraction database

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MINTi
Q15797

STRING: functional protein association networks

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STRINGi
9606.ENSP00000305769

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1465
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KHUX-ray2.50A/B/C/D248-465[»]
2LAWNMR-B222-233[»]
2LAXNMR-B201-209[»]
2LAYNMR-B201-209[»]
2LAZNMR-B210-217[»]
2LB0NMR-B208-217[»]
2LB1NMR-B220-233[»]
3Q47X-ray1.70C456-464[»]
3Q4AX-ray1.54C456-465[»]
5ZOKX-ray2.85A/C259-462[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15797

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q15797

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q15797

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini12 – 136MH1PROSITE-ProRule annotationAdd BLAST125
Domaini271 – 465MH2PROSITE-ProRule annotationAdd BLAST195

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni418 – 428L3 loop1 PublicationAdd BLAST11

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi39 – 45Poly-Lys7
Compositional biasi198 – 201Poly-Ser4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The MH2 domain mediates phosphorylation-dependent trimerization through L3 loop binding of phosphoserines in the adjacent subunit.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the dwarfin/SMAD family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3701 Eukaryota
ENOG410XQKU LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154391

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000286019

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053353

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15797

KEGG Orthology (KO)

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KOi
K04676

Identification of Orthologs from Complete Genome Data

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OMAi
GTPSKCV

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15797

TreeFam database of animal gene trees

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TreeFami
TF314923

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.200.10, 1 hit
3.90.520.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf

The PANTHER Classification System

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PANTHERi
PTHR13703 PTHR13703, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03165 MH1, 1 hit
PF03166 MH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00523 DWA, 1 hit
SM00524 DWB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49879 SSF49879, 1 hit
SSF56366 SSF56366, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51075 MH1, 1 hit
PS51076 MH2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15797-1) [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
MNVTSLFSFT SPAVKRLLGW KQGDEEEKWA EKAVDALVKK LKKKKGAMEE
60 70 80 90 100
LEKALSCPGQ PSNCVTIPRS LDGRLQVSHR KGLPHVIYCR VWRWPDLQSH
110 120 130 140 150
HELKPLECCE FPFGSKQKEV CINPYHYKRV ESPVLPPVLV PRHSEYNPQH
160 170 180 190 200
SLLAQFRNLG QNEPHMPLNA TFPDSFQQPN SHPFPHSPNS SYPNSPGSSS
210 220 230 240 250
STYPHSPTSS DPGSPFQMPA DTPPPAYLPP EDPMTQDGSQ PMDTNMMAPP
260 270 280 290 300
LPSEINRGDV QAVAYEEPKH WCSIVYYELN NRVGEAFHAS STSVLVDGFT
310 320 330 340 350
DPSNNKNRFC LGLLSNVNRN STIENTRRHI GKGVHLYYVG GEVYAECLSD
360 370 380 390 400
SSIFVQSRNC NYHHGFHPTT VCKIPSGCSL KIFNNQEFAQ LLAQSVNHGF
410 420 430 440 450
ETVYELTKMC TIRMSFVKGW GAEYHRQDVT STPCWIEIHL HGPLQWLDKV
460
LTQMGSPHNP ISSVS
Length:465
Mass (Da):52,260
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2DD34B7F434DBC7E
GO
Isoform 2 (identifier: Q15797-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MNVTSLFSFTSP → MFVLLFFPFLFL
     13-133: Missing.
     220-258: ADTPPPAYLP...PPLPSEINRG → GRLECSVMFC...EGGFQPWYMT
     259-465: Missing.

Note: No experimental confirmation available.
Show »
Length:137
Mass (Da):15,406
Checksum:iA43324EACCA53062
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAY1D6RAY1_HUMAN
Mothers against decapentaplegic hom...
SMAD1
95Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RD62D6RD62_HUMAN
Mothers against decapentaplegic hom...
SMAD1
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REQ3D6REQ3_HUMAN
Mothers against decapentaplegic hom...
SMAD1
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RDN7D6RDN7_HUMAN
Mothers against decapentaplegic hom...
SMAD1
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RBH9D6RBH9_HUMAN
Mothers against decapentaplegic hom...
SMAD1
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1D5RMR4A0A1D5RMR4_HUMAN
Mothers against decapentaplegic hom...
SMAD1
10Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0668693V → A Found in a patient with primary pulmonary hypertension; unknown pathological significance; affects SMAD-mediated signaling. 1 PublicationCorresponds to variant dbSNP:rs587777018EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0571631 – 12MNVTS…SFTSP → MFVLLFFPFLFL in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_05716413 – 133Missing in isoform 2. 1 PublicationAdd BLAST121
Alternative sequenceiVSP_057165220 – 258ADTPP…EINRG → GRLECSVMFCSHIRQCYHSV TEKLGQPAVEGGFQPWYMT in isoform 2. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_057166259 – 465Missing in isoform 2. 1 PublicationAdd BLAST207

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U59912 mRNA Translation: AAC50790.1
U59423 mRNA Translation: AAB06852.1
U54826 mRNA Translation: AAC50493.1
U57456 mRNA Translation: AAC50621.1
BT007386 mRNA Translation: AAP36050.1
AK293055 mRNA Translation: BAF85744.1
AL117396 Genomic DNA Translation: CAB55898.1
CH471056 Genomic DNA Translation: EAX05037.1
CH471056 Genomic DNA Translation: EAX05038.1
CH471056 Genomic DNA Translation: EAX05039.1
CH471056 Genomic DNA Translation: EAX05040.1
BC001878 mRNA Translation: AAH01878.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3765.1 [Q15797-1]

Protein sequence database of the Protein Information Resource

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PIRi
S68987

NCBI Reference Sequences

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RefSeqi
NP_001003688.1, NM_001003688.1 [Q15797-1]
NP_005891.1, NM_005900.2 [Q15797-1]
XP_005263049.1, XM_005262992.3
XP_006714280.1, XM_006714217.2
XP_011530263.1, XM_011531961.1
XP_011530264.1, XM_011531962.1 [Q15797-1]
XP_011530265.1, XM_011531963.1
XP_011530266.1, XM_011531964.1 [Q15797-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.604588

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000302085; ENSP00000305769; ENSG00000170365 [Q15797-1]
ENST00000394092; ENSP00000377652; ENSG00000170365 [Q15797-1]
ENST00000515385; ENSP00000426568; ENSG00000170365 [Q15797-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4086

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4086

UCSC genome browser

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UCSCi
uc003ikc.4 human [Q15797-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U59912 mRNA Translation: AAC50790.1
U59423 mRNA Translation: AAB06852.1
U54826 mRNA Translation: AAC50493.1
U57456 mRNA Translation: AAC50621.1
BT007386 mRNA Translation: AAP36050.1
AK293055 mRNA Translation: BAF85744.1
AL117396 Genomic DNA Translation: CAB55898.1
CH471056 Genomic DNA Translation: EAX05037.1
CH471056 Genomic DNA Translation: EAX05038.1
CH471056 Genomic DNA Translation: EAX05039.1
CH471056 Genomic DNA Translation: EAX05040.1
BC001878 mRNA Translation: AAH01878.1
CCDSiCCDS3765.1 [Q15797-1]
PIRiS68987
RefSeqiNP_001003688.1, NM_001003688.1 [Q15797-1]
NP_005891.1, NM_005900.2 [Q15797-1]
XP_005263049.1, XM_005262992.3
XP_006714280.1, XM_006714217.2
XP_011530263.1, XM_011531961.1
XP_011530264.1, XM_011531962.1 [Q15797-1]
XP_011530265.1, XM_011531963.1
XP_011530266.1, XM_011531964.1 [Q15797-1]
UniGeneiHs.604588

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1KHUX-ray2.50A/B/C/D248-465[»]
2LAWNMR-B222-233[»]
2LAXNMR-B201-209[»]
2LAYNMR-B201-209[»]
2LAZNMR-B210-217[»]
2LB0NMR-B208-217[»]
2LB1NMR-B220-233[»]
3Q47X-ray1.70C456-464[»]
3Q4AX-ray1.54C456-465[»]
5ZOKX-ray2.85A/C259-462[»]
ProteinModelPortaliQ15797
SMRiQ15797
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110261, 125 interactors
ComplexPortaliCPX-144 SMAD1 homotrimer
CPX-54 SMAD1-SMAD4 complex
CORUMiQ15797
DIPiDIP-38538N
IntActiQ15797, 81 interactors
MINTiQ15797
STRINGi9606.ENSP00000305769

Protein family/group databases

MoonDBiQ15797 Predicted

PTM databases

iPTMnetiQ15797
PhosphoSitePlusiQ15797

Polymorphism and mutation databases

BioMutaiSMAD1
DMDMi13633915

Proteomic databases

EPDiQ15797
jPOSTiQ15797
MaxQBiQ15797
PaxDbiQ15797
PeptideAtlasiQ15797
PRIDEiQ15797
ProteomicsDBi60766

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4086
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302085; ENSP00000305769; ENSG00000170365 [Q15797-1]
ENST00000394092; ENSP00000377652; ENSG00000170365 [Q15797-1]
ENST00000515385; ENSP00000426568; ENSG00000170365 [Q15797-1]
GeneIDi4086
KEGGihsa:4086
UCSCiuc003ikc.4 human [Q15797-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4086
DisGeNETi4086
EuPathDBiHostDB:ENSG00000170365.9

GeneCards: human genes, protein and diseases

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GeneCardsi
SMAD1
HGNCiHGNC:6767 SMAD1
HPAiCAB005389
MIMi601595 gene
neXtProtiNX_Q15797
OpenTargetsiENSG00000170365
PharmGKBiPA30524

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3701 Eukaryota
ENOG410XQKU LUCA
GeneTreeiENSGT00940000154391
HOGENOMiHOG000286019
HOVERGENiHBG053353
InParanoidiQ15797
KOiK04676
OMAiGTPSKCV
PhylomeDBiQ15797
TreeFamiTF314923

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
R-HSA-5689880 Ub-specific processing proteases
R-HSA-8941326 RUNX2 regulates bone development
SignaLinkiQ15797
SIGNORiQ15797

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SMAD1 human
EvolutionaryTraceiQ15797

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Mothers_against_decapentaplegic_homolog_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4086

Protein Ontology

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PROi
PR:Q15797

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000170365 Expressed in 241 organ(s), highest expression level in visceral pleura
CleanExiHS_SMAD1
ExpressionAtlasiQ15797 baseline and differential
GenevisibleiQ15797 HS

Family and domain databases

Gene3Di2.60.200.10, 1 hit
3.90.520.10, 1 hit
InterProiView protein in InterPro
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf
PANTHERiPTHR13703 PTHR13703, 1 hit
PfamiView protein in Pfam
PF03165 MH1, 1 hit
PF03166 MH2, 1 hit
SMARTiView protein in SMART
SM00523 DWA, 1 hit
SM00524 DWB, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF56366 SSF56366, 1 hit
PROSITEiView protein in PROSITE
PS51075 MH1, 1 hit
PS51076 MH2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSMAD1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15797
Secondary accession number(s): A8KAJ0
, D3DNZ9, Q16636, Q9UFT8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1996
Last modified: January 16, 2019
This is version 208 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
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