Protein Description

Gene Symbol SMAD1
Entrez ID 4086
Uniprot ID Q15797
Description SMAD family member 1
Chromosomal Location chr4: 145,481,194-145,558,079
Ontology GO ID GO Term Definition Evidence

BP

GO:0000165

MAPK cascade

An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain two additional tiers: the upstream MAP4K and the downstream MAP Kinase-activated kinase (MAPKAPK). The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.

IEA

BP

GO:0001657

ureteric bud development

The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure.

IEA

BP

GO:0001710

mesodermal cell fate commitment

The cell differentiation process that results in commitment of a cell to become part of the mesoderm.

IEA

BP

GO:0002051

osteoblast fate commitment

The commitment of mesenchymal cells to the specific cell fate of an osteoblast. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.

IEA

BP

GO:0006366

transcription from RNA polymerase II promoter

The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

IEA

BP

GO:0006954

inflammatory response

The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.

IEA

BP

GO:0007165

signal transduction

The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

NAS

BP

GO:0007179

transforming growth factor beta receptor signaling pathway

A series of molecular signals initiated by the binding of an extracellular ligand to a transforming growth factor beta receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

NAS

BP

GO:0007183

SMAD protein complex assembly

The aggregation, arrangement and bonding together of a set of components to form a protein complex that contains SMAD proteins.

IDA

BP

GO:0007276

gamete generation

The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell.

IEA

BP

GO:0008285

negative regulation of cell proliferation

Any process that stops, prevents or reduces the rate or extent of cell proliferation.

IEA

BP

GO:0009880

embryonic pattern specification

The process that results in the patterns of cell differentiation that will arise in an embryo.

ISS

BP

GO:0010628

positive regulation of gene expression

Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.

IDA

BP

GO:0030509

BMP signaling pathway

A series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

IDA|IMP|ISS|TAS

BP

GO:0030901

midbrain development

The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles).

IEA

BP

GO:0030902

hindbrain development

The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium).

IEA

BP

GO:0031053

primary miRNA processing

Any process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule.

TAS

BP

GO:0042592

homeostatic process

Any biological process involved in the maintenance of an internal steady state.

IEA

BP

GO:0045669

positive regulation of osteoblast differentiation

Any process that activates or increases the frequency, rate or extent of osteoblast differentiation.

IEA

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IC|IDA

BP

GO:0051216

cartilage development

The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

IEA

BP

GO:0060038

cardiac muscle cell proliferation

The expansion of a cardiac muscle cell population by cell division.

IEA

BP

GO:0060348

bone development

The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.

IEA

BP

GO:0060395

SMAD protein signal transduction

The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell.

ISS|NAS

BP

GO:0061036

positive regulation of cartilage development

Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

IEA

BP

GO:1901522

positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus.

ISS

BP

GO:1902895

positive regulation of pri-miRNA transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of pri-miRNA transcription from RNA polymerase II promoter.

IEA

CC

GO:0005622

intracellular

The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.

NAS

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA|ISS|NAS|TAS

CC

GO:0005637

nuclear inner membrane

The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.

IDA

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

TAS

CC

GO:0005667

transcription factor complex

A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

IEA

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IDA|ISS

CC

GO:0005829

cytosol

The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

TAS

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

NAS

CC

GO:0043234

protein complex

A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical.

IDA

CC

GO:0071141

SMAD protein complex

A protein complex that consists of SMAD proteins; may be homomeric or heteromeric.

NAS

MF

GO:0000978

RNA polymerase II core promoter proximal region sequence-specific DNA binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II.

IDA

MF

GO:0000979

RNA polymerase II core promoter sequence-specific DNA binding

Interacting selectively and non-covalently with the regulatory region composed of the transcription start site and binding sites for transcription factors of the RNA polymerase II basal transcription machinery.

IEA

MF

GO:0001077

transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II (RNAP II) in order to activate or increase the frequency, rate or extent of transcription from the RNAP II promoter.

IDA

MF

GO:0003700

transcription factor activity, sequence-specific DNA binding

Interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.

IDA

MF

GO:0005057

receptor signaling protein activity

Conveys a signal from an upstream receptor or intracellular signal transducer, converting the signal into a form where it can ultimately trigger a change in the state or activity of a cell.

NAS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0019901

protein kinase binding

Interacting selectively and non-covalently with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

IPI

MF

GO:0030618

transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity

A TGF-beta cytoplasmic mediator that is phosphorylated by a TGFbeta receptor and complexes with a common-partner mediator. The- heterocomplex translocates to the nucleus to regulate transcription.

TAS

MF

GO:0042802

identical protein binding

Interacting selectively and non-covalently with an identical protein or proteins.

IPI

MF

GO:0042803

protein homodimerization activity

Interacting selectively and non-covalently with an identical protein to form a homodimer.

IEA

MF

GO:0046872

metal ion binding

Interacting selectively and non-covalently with any metal ion.

IEA

MF

GO:0046982

protein heterodimerization activity

Interacting selectively and non-covalently with a nonidentical protein to form a heterodimer.

IEA

MF

GO:0070410

co-SMAD binding

Interacting selectively and non-covalently with a common mediator SMAD signaling protein.

IPI

MF

GO:0070411

I-SMAD binding

Interacting selectively and non-covalently with an inhibitory SMAD signaling protein.

IPI

MF

GO:0070878

primary miRNA binding

Interacting selectively and non-covalently with a primary microRNA (pri-miRNA) transcript, an RNA molecule that is processed into a short hairpin-shaped structure called a pre-miRNA and finally into a functional miRNA. Both double-stranded and single-stranded regions of a pri-miRNA are required for binding.

IEA

Domain ID Description

IPR001132

SMAD domain, Dwarfin-type

IPR003619

MAD homology 1, Dwarfin-type

IPR008984

SMAD/FHA domain

IPR013019

MAD homology, MH1

IPR013790

Dwarfin

IPR017855

SMAD domain-like

Pathway ID Pathway Term Pathway Source

hsa04350

TGF-beta signaling pathway

KEGG

hsa04390

Hippo signaling pathway

KEGG

hsa04550

Signaling pathways regulating pluripotency of stem cells

KEGG

hsa05202

Transcriptional misregulation in cancer

KEGG

WP560

TGF-beta Receptor Signaling

WikiPathways

WP1984

Integrated Breast Cancer Pathway

WikiPathways

WP3876

BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation

WikiPathways

WP2064

Neural Crest Differentiation

WikiPathways

WP1425

Bone Morphogenic Protein (BMP) Signalling and Regulation

WikiPathways

WP3931

ESC Pluripotency Pathways

WikiPathways

WP2857

Mesodermal Commitment Pathway

WikiPathways

WP1539

Angiogenesis

WikiPathways

WP1591

Heart Development

WikiPathways

WP3927

BMP Signaling Pathway in Eyelid Development

WikiPathways

WP2895

Differentiation of white and brown adipocyte

WikiPathways

h_alkPathway

ALK in cardiac myocytes

BioCarta

h_ctcfPathway

CTCF: First Multivalent Nuclear Factor

BioCarta

No diseases found.

Tissue Cell Type

epididymis

glandular cells

stomach

glandular cells

No databases found.

Pubmed ID Author Year Title

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

SMAD7

4092

O15105

0.00

TGFBR2

7048

P37173

0.00

CCND1

595

P24385

0.49

CTNNA1

1495

P35221

0.49

MLH1

4292

P40692

0.49

MSH2

4436

P43246

0.49

MUTYH

4595

Q9UIF7

0.49

PTPN12

5782

Q05209

0.49

TLR2

7097

O60603

0.49

DLC1

10395

Q96QB1

0.49

FBXW7

55294

Q969H0

0.49

SUV39H1

6839

O43463

0.52

TNNT1

7138

P13805

0.52

TRIP6

7205

Q15654

0.52

KAT2B

8850

Q92831

0.52

SQSTM1

8878

Q13501

0.52

VEPH1

79674

Q14D04

0.52

USP45

85015

Q70EL2

0.52

APP

351

P05067

0.56

MECOM

2122

Q03112

0.56

YY1

7528

P25490

0.56

PARD3

56288

Q8TEW0

0.56

ACO2

50

Q99798

0.63

FOXO3

2309

O43524

0.63

KAT2A

2648

Q92830

0.63

HDAC1

3065

Q13547

0.63

HOXA13

3209

P31271

0.63

MT-CO1

4512

P00395

0.63

OAZ1

4946

P54368

0.63

PAX6

5080

P26367

0.63

PPM1A

5494

P35813

0.63

PSMD1

5707

Q99460

0.63

PSMD11

5717

O00231

0.63

SMARCE1

6605

Q969G3

0.63

SNRNP70

6625

P08621

0.63

SOX5

6660

P35711

0.63

TTF1

7270

Q15361

0.63

TUBA4A

7277

P68366

0.63

ZNF76

7629

P36508

0.63

ZNF184

7738

Q99676

0.63

NUP214

8021

P35658

0.63

USP9X

8239

Q93008

0.63

CBX4

8535

O00257

0.63

HGS

9146

O14964

0.63

GCN1

10985

Q92616

0.63

ZNF510

22869

Q9Y2H8

0.63

MGA

23269

Q8IWI9

0.63

PRKD2

25865

Q9BZL6

0.63

SS18L1

26039

O75177

0.63

IRF2BP1

26145

Q8IU81

0.63

OAZ3

51686

Q9UMX2

0.63

MKL2

57496

Q9ULH7

0.63

HECW2

57520

Q9P2P5

0.63

ANKRD27

84079

Q96NW4

0.63

STARD13

90627

Q9Y3M8

0.63

ZNF251

90987

Q9BRH9

0.63

CAMSAP1

157922

Q5T5Y3

0.63

THSD7A

221981

Q9UPZ6

0.63

MAST4

375449

O15021

0.63

ZNF724P

440519

A8MTY0

0.63

COL4A1

1282

P02462

0.65

GLI3

2737

P10071

0.65

HOXD13

3239

P35453

0.65

BMPR1A

657

P36894

0.66

NKX3-2

579

P78367

0.68

RUNX1

861

Q01196

0.72

RUNX3

864

Q13761

0.72

UCHL3

7347

P15374

0.72

MED24

9862

O75448

0.72

MED15

51586

Q96RN5

0.72

AP2A2

161

O94973

0.73

AKR1B1

231

P15121

0.73

INPP4A

3631

Q96PE3

0.73

TCF20

6942

Q9UGU0

0.73

PIGQ

9091

Q9BRB3

0.73

USP15

9958

Q9Y4E8

0.73

ICK

22858

Q9UPZ9

0.73

CHMP3

51652

Q9Y3E7

0.73

EWSR1

2130

Q01844

0.74

PUM1

9698

Q14671

0.74

HBP1

26959

O60381

0.74

ZDHHC3

51304

Q9NYG2

0.74

FOXG1

2290

P55316

0.75

UBA52

7311

P62987

0.75

PARD3B

117583

Q8TEW8

0.75

ZNF8

7554

P17098

0.77

WWP1

11059

Q9H0M0

0.79

DVL1

1855

O14640

0.81

NEDD4

4734

P46934

0.82

LEF1

51176

Q9UJU2

0.82

ERBB2IP

55914

Q96RT1

0.82

SMAD3

4088

P84022

0.84

AR

367

P10275

0.88

HOXC8

3224

P31273

0.89

SMAD1

4086

Q15797

0.89

SKI

6497

P12755

0.89

STUB1

10273

Q9UNE7

0.89

YAP1

10413

P46937

0.89

SMAD4

4089

Q13485

0.90

SMURF1

57154

Q9HCE7

0.96

ACVR2B

93

Q13705

0.00

BMPR1B

658

O00238

0.00

ID2

3398

Q02363

0.00

APC

324

P25054

0.49

BUB1

699

O43683

0.49

ERBB2

2064

P04626

0.49

NRAS

4893

P01111

0.49

PDGFRL

5157

Q15198

0.49

AXIN2

8313

Q9Y2T1

0.49

MLH3

27030

Q9UHC1

0.49

ACVRL1

94

P37023

0.52

RHOG

391

P84095

0.52

CDK7

1022

P50613

0.52

CDK9

1025

P50750

0.52

PAK1

5058

Q13153

0.52

RAC2

5880

P15153

0.52

RAN

5901

P62826

0.52

RAP2A

5911

P10114

0.52

BTG2

7832

P78543

0.52

PDLIM7

9260

Q9NR12

0.52

ARHGEF6

9459

Q15052

0.52

PREB

10113

Q9HCU5

0.52

RASD2

23551

Q96D21

0.52

RAB38

23682

P57729

0.52

RAB30

27314

Q15771

0.52

RASL12

51285

Q9NYN1

0.52

ECSIT

51295

Q9BQ95

0.52

RAB6B

51560

Q9NRW1

0.52

ELP3

55140

Q9H9T3

0.52

BTBD2

55643

Q9BX70

0.52

UBE2Z

65264

Q9H832

0.52

RAB34

83871

Q9BZG1

0.52

RAB2B

84932

Q8WUD1

0.52

GSC

145258

P56915

0.52

GDF6

392255

Q6KF10

0.52

EIF2AK4

440275

Q9P2K8

0.52

ARL4D

379

P49703

0.59

ING2

3622

Q9H160

0.59

RAB3B

5865

P20337

0.59

FHL5

9457

Q5TD97

0.59

NAT9

26151

Q9BTE0

0.59

UBXN1

51035

Q04323

0.59

FBXL12

54850

Q9NXK8

0.59

PLEKHB1

58473

Q9UF11

0.59

FBXO30

84085

Q8TB52

0.59

RHEBL1

121268

Q8TAI7

0.59

FRZB

2487

Q92765

0.63

HOXA5

3202

P20719

0.63

NOTCH2

4853

Q04721

0.63

RFX1

5989

P22670

0.63

TP53

7157

P04637

0.63

XPC

7508

Q01831

0.63

KMT2D

8085

O14686

0.63

HMGA2

8091

P52926

0.63

TTF2

8458

Q9UNY4

0.63

PIAS1

8554

O75925

0.63

KDM6B

23135

O15054

0.63

SF3B1

23451

O75533

0.63

ZNF512B

57473

Q96KM6

0.63

ZSCAN4

201516

Q8NAM6

0.63

MEN1

4221

O00255

0.65

SKIL

6498

P12757

0.65

ZNF521

25925

Q96K83

0.65

TGFBR1

7046

P36897

0.66

CCNC

892

P24863

0.68

CCNT1

904

O60563

0.68

MAPK1

5594

P28482

0.69

STAT3

6774

P40763

0.72

ZEB1

6935

P37275

0.72

TGIF1

7050

Q15583

0.72

WDR77

79084

Q9BQA1

0.72

CDK8

1024

P49336

0.73

SMAD5

4090

Q99717

0.73

MBD1

4152

Q9UIS9

0.73

MED6

10001

O75586

0.73

GMEB1

10691

Q9Y692

0.73

LEMD3

23592

Q9Y2U8

0.73

ZBTB44

29068

Q8NCP5

0.73

SNIP1

79753

Q8TAD8

0.73

ZEB2

9839

O60315

0.74

RPS27A

6233

P62979

0.75

XPO1

7514

O14980

0.77

ZCCHC12

170261

Q6PEW1

0.78

HIPK2

28996

Q9H2X6

0.79

GSK3B

2932

P49841

0.81

CREBBP

1387

Q92793

0.82

SMAD2

4087

Q15796

0.82

PIAS4

51588

Q8N2W9

0.83

RUNX2

860

Q13950

0.84

ZNF423

23090

Q2M1K9

0.84

ACVR1

90

Q04771

0.85

EP300

2033

Q09472

0.85

NEUROG1

4762

Q92886

0.85

NEDD9

4739

Q14511

0.86

PSMB4

5692

P28070

0.88

SMAD6

4091

O43541

0.89

TOB1

10140

P50616

0.89

SMURF2

64750

Q9HAU4

0.89