SMAD5 - SMAD family member 5 Gene

Also Known as DWFC; JV5-1; MADH5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4090

About SMAD5

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:136,132,845-136,182,733 (from NCBI)

This gene has 12 transcripts (splice variants), 205 orthologues and 7 paralogues. Ubiquitous expression in endometrium (RPKM 14.1), ovary (RPKM 13.4) and 25 other tissues.

Summary

The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in Cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SMAD5 Products (3)

mRNA Protein Name
NM_001001419.3 NP_001001419.1 mothers against decapentaplegic homolog 5
NM_001001420.3 NP_001001420.1 mothers against decapentaplegic homolog 5
NM_005903.7 NP_005894.3 mothers against decapentaplegic homolog 5
Molecular Function GO Annotation Evidence References Source
enables DEAD/H-box RNA helicase binding IPI
IPI: Inferred from physical interaction
18548003 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
28369590 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15231748 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
11278251 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within negative regulation of Fas signaling pathway IMP
IMP: Inferred from mutant phenotype
26400397 GOA
involved in negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
26400397 GOA
acts upstream of negative regulation of gene expression IMP
IMP: Inferred from mutant phenotype
26400397 GOA
involved in osteoblast differentiation IDA
IDA: Inferred from direct assay
30378100 GOA
involved in positive regulation of osteoblast differentiation IDA
IDA: Inferred from direct assay
32271402 GOA
Cellular Component GO Annotation Evidence References Source
part of protein-containing complex IDA
IDA: Inferred from direct assay
23610558 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMAD5 Protein Structure

MH1

MH1: MH1 domain (32 - 132)

MH2

MH2: MH2 domain (266 - 438)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 464 a.a.
Protein Preferred Names Protein Names

mothers against decapentaplegic homolog 5

  • MAD, mothers against decapentaplegic homolog 5

SMAD5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMAD5 Q99717 POU6F2 Homo sapiens P78424 32296183
Intra
SMAD5 Q99717 POU6F2 Homo sapiens P78424 32296183
Intra
SMAD5 Q99717 KLK6 Homo sapiens Q92876 32814053
Intra
SMAD5 Q99717 KLK6 Homo sapiens Q92876 32814053
Intra
SMAD5 Q99717 KLK6 Homo sapiens Q92876 32814053
Intra
SMAD5 Q99717 DDX5 Homo sapiens P17844 18548003
Intra
SMAD5 Q99717 SMURF2 Homo sapiens Q9HAU4
Y2H
15231748
Intra
SMAD5 Q99717 LITAF Homo sapiens Q99732 32814053
Intra
SMAD5 Q99717 LITAF Homo sapiens Q99732 32814053
Intra
SMAD5 Q99717 LITAF Homo sapiens Q99732 32814053
Intra
SMAD5 Q99717 WBP2 Homo sapiens Q969T9 32296183
Intra
SMAD5 Q99717 WBP2 Homo sapiens Q969T9 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

SMAD5 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80327 Smad5 Antibody (YA073) WB, ICC/IF, IHC-P, FC Human, Mouse
HY-P83093 Phospho-Smad5 (Ser463/465) Antibody (YA2838) WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P83771 Phospho-Smad1/5/9 (S463/S465/S467)Antibody(YA3567) WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P86163 Phospho-Smad5(Ser463/Ser465) Antibody (YA5855) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat
HY-P86217 Smad5 Antibody (YA5909) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Fibrodysplasia Ossificans Progressiva
  • Myositis Ossificans Progressiva

  • Progressive Myositis Ossificans

  • FOP

  • Progressive Ossifying Myositis

  • Myositis Ossificans

  • Stone Man Syndrome

  • Man Of Stone

  • Myositis Ossificans Progressive

  • Diffuse Progressive Ossifying Polymyositis

  • Fibrodysplasia Ossificans Congenita

  • Myositis Ossificans Progressiva, Site Unspecified

  • Münchmeyer Disease

  • Fop - [Fibrodysplasia Ossificans Progressiva]

  • Progressive Myositis Ossificans Calcification

Deafness, Autosomal Dominant 52
  • DFNA52

  • Autosomal Dominant Nonsyndromic Deafness 52

  • Deafness, Autosomal Dominant 42

  • Dfna42

  • Autosomal Dominant Deafness 52

Acromesomelic Dysplasia 2a
  • Chondrodysplasia, Grebe Type

  • Acromesomelic Dysplasia, Grebe Type

  • Grebe Chondrodysplasia

  • Amdg

  • Grebe Syndrome

  • AMD2A

  • Grebe Dysplasia

  • Achondrogenesis, Brazilian

  • Achondrogenesis, Type Ii, Formerly

  • Acromesomelic Dysplasia-2a

  • Achondrogenesis Type Ii

  • Brazilian Achondrogenesis

  • Acromesomelic Chondrodysplasia, Grebe Type

Cowden Syndrome 6
  • CWS6

  • Cowden Syndrome, Type 6

Geotrichosis
Arteriovenous Malformation
  • Arteriovenous Malformations

  • Arteriovenous Hemangioma

  • Cirsoid Aneurysm

  • Racemose Aneurysm

  • Racemose Angioma

  • Racemose Hemangioma

  • Congenital Arteriovenous Malformation

Hereditary Hemorrhagic Telangiectasia
  • Rendu-Osler-Weber Disease

  • Hht

  • Osler-Weber-Rendu Disease

  • Telangiectasia, Hereditary Hemorrhagic

  • Osler Hemorrhagic Telangiectasia Syndrome

  • Orw Disease

  • Osler Weber Rendu Syndrome

  • Osler-Rendu-Weber Disease

  • Osler-Weber-Rendu Syndrome

  • Rendu-Osler Disease

  • Telangiectasia Hereditary Hemorrhagic

  • Telangiectasia Hemorrhagic, Hereditary

  • Hht - [Hereditary Haemorrhagic Telangiectasia]

  • Osler Haemorrhagic Telangiectasia Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SMAD5 VGNC VGNC:46522
Felis catus SMAD5 VGNC VGNC:68133
Bos taurus SMAD5 VGNC VGNC:34978
Rattus norvegicus SMAD5 RGD RGD:620158
Mus musculus SMAD5 MGD MGI:1328787
Macaca mulatta SMAD5 VGNC VGNC:77813
Others SMAD5 NCBI