Protein Description

Gene Symbol SMAD5
Entrez ID 4090
Uniprot ID Q99717
Description SMAD family member 5
Chromosomal Location chr5: 136,132,845-136,188,747
Ontology GO ID GO Term Definition Evidence

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:0001880

Mullerian duct regression

The process in which the Mullerian ducts, primordia of the oviducts, uterus and upper vagina, undergo regression in male embryos.

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:0006351

transcription, DNA-templated

The cellular synthesis of RNA on a template of DNA.

IEA

BP

GO:0006468

protein phosphorylation

The process of introducing a phosphate group on to a protein.

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:0007281

germ cell development

The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism.

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:0030218

erythrocyte differentiation

The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.

IEA

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.

ISS|TAS

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:0045893

positive regulation of transcription, DNA-templated

Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.

NAS

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:0060048

cardiac muscle contraction

Muscle contraction of cardiac muscle tissue.

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:0071407

cellular response to organic cyclic compound

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.

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|TAS

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.

ISS|NAS|TAS

CC

GO:0005654

nucleoplasm

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

IDA|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: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: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.

IEA

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: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:0031625

ubiquitin protein ligase binding

Interacting selectively and non-covalently with a ubiquitin protein ligase enzyme, any of the E3 proteins.

IPI

MF

GO:0046872

metal ion binding

Interacting selectively and non-covalently with any metal ion.

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

hsa04550

Signaling pathways regulating pluripotency of stem cells

KEGG

WP560

TGF-beta Receptor Signaling

WikiPathways

WP3876

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

WikiPathways

WP3931

ESC Pluripotency Pathways

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

colon

endothelial cells

skin

fibroblasts

soft tissue

fibroblasts

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

BMP6

654

P22004

0.52

KAT2A

2648

Q92830

0.63

HBG2

3048

P69892

0.63

HDAC1

3065

Q13547

0.63

HOXA13

3209

P31271

0.63

HOXD13

3239

P35453

0.63

SMAD6

4091

O43541

0.63

MT-ND4

4538

P03905

0.63

NEDD4

4734

P46934

0.63

PAX6

5080

P26367

0.63

PSMD11

5717

O00231

0.63

RYR2

6262

Q92736

0.63

SFPQ

6421

P23246

0.63

SKI

6497

P12755

0.63

SNRNP70

6625

P08621

0.63

SOX5

6660

P35711

0.63

UBA1

7317

P22314

0.63

ZNF184

7738

Q99676

0.63

STUB1

10273

Q9UNE7

0.63

YAP1

10413

P46937

0.63

SF3B1

23451

O75533

0.63

ZBTB44

29068

Q8NCP5

0.63

MTMR10

54893

Q9NXD2

0.63

ANKRD13A

88455

Q8IZ07

0.63

FLNA

2316

P21333

0.67

SF3B3

23450

Q15393

0.70

RUNX1

861

Q01196

0.72

RUNX3

864

Q13761

0.72

HGS

9146

O14964

0.72

BCAT1

586

P54687

0.73

SMAD1

4086

Q15797

0.73

RBM4

5936

Q9BWF3

0.73

SNRPA

6626

P09012

0.73

SUV39H1

6839

O43463

0.73

PNKP

11284

Q96T60

0.73

CHMP3

51652

Q9Y3E7

0.73

PPIL4

85313

Q8WUA2

0.73

U2AF2

11338

P26368

0.74

ZNF8

7554

P17098

0.77

PLEKHO1

51177

Q53GL0

0.78

COPS5

10987

Q92905

0.79

ACVR1

90

Q04771

0.84

RUNX2

860

Q13950

0.86

SMAD4

4089

Q13485

0.87

WWP1

11059

Q9H0M0

0.89

SMURF1

57154

Q9HCE7

0.89

NAA20

51126

P61599

0.49

GDF6

392255

Q6KF10

0.52

EPN1

29924

Q9Y6I3

0.56

CDK8

1024

P49336

0.63

ELAVL1

1994

Q15717

0.63

SMAD2

4087

Q15796

0.63

SMAD3

4088

P84022

0.63

PTPN12

5782

Q05209

0.63

SUMO1

7341

P63165

0.63

XPO1

7514

O14980

0.63

HMGA2

8091

P52926

0.63

HECW2

57520

Q9P2P5

0.63

SOX7

83595

Q9BT81

0.63

MEN1

4221

O00255

0.65

SUV39H2

79723

Q9H5I1

0.65

MBD1

4152

Q9UIS9

0.73

ZEB2

9839

O60315

0.73

CXXC5

51523

Q7LFL8

0.73

EP300

2033

Q09472

0.82

TOB1

10140

P50616

0.89

SMURF2

64750

Q9HAU4

0.91