• Gene id: 4090

Gene Summary

• Gene Symbol: SMAD5   Gene   UCSC   Ensembl
• Aliases: DWFC, JV5-1, MADH5
• Gene name: SMAD family member 5
• Alternate names: mothers against decapentaplegic homolog 5, MAD, mothers against decapentaplegic homolog 5, SMA- and MAD-related protein 5, SMAD, mothers against DPP homolog 5, mothers against decapentaplegic, drosophila, homolog of, 5,
• Gene location: 5q31.1 (136132844: 136182733)     Exons: 10     NC_000005.10
• Gene summary(Entrez): 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 typ
• OMIM: 600702

Protein Summary

• Protein general information: Q99717  
  • Name: Mothers against decapentaplegic homolog 5 (MAD homolog 5) (Mothers against DPP homolog 5) (JV5 1) (SMAD family member 5) (SMAD 5) (Smad5) (hSmad5)
  • Length: 465  
  • Mass: 52258
  • Tissue specificity: Ubiquitous.
• Sequence:

  MTSMASLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSSPGQPSKCVTIPRSLDGR
  LQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLDICEFPFGSKQKEVCINPYHYKRVESPVLPPVLVPRHNEFNPQ
  HSLLVQFRNLSHNEPHMPQNATFPDSFHQPNNTPFPLSPNSPYPPSPASSTYPNSPASSGPGSPFQLPADTPPPA
  YMPPDDQMGQDNSQPMDTSNNMIPQIMPSISSRDVQPVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFT
  DPSNNKSRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNCNFHHGFHPTTVCKIP
  SSCSLKIFNNQEFAQLLAQSVNHGFEAVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKV
  LTQMGSPLNPISSVS

• Structural information:
  • Protein Domains: (13..13-)
    (/note="MH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00438-)
    (271..46-)
    (/note="MH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00439"-)
  • Interpro: IPR013790  IPR003619  IPR013019  IPR017855  IPR001132   IPR008984  IPR036578  
  • Prosite: PS51075 PS51076
  • PDB: 6FZS 6TCE
  • PDBsum: 6FZS 6TCE
  • DIP: 57571
  • STRING: ENSP00000441954
• Other Databases: GeneCards:  SMAD5  Malacards:  SMAD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001503	ossification	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002051	osteoblast fate commitment	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001880	Mullerian duct regression	IEA	biological process
GO:0060395	SMAD protein signal transduction	NAS	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	TAS	biological process
GO:0071141	SMAD protein complex	NAS	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0060395	SMAD protein signal transduction	ISS	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0017151	DEAD/H-box RNA helicase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	NAS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	NAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0009880	embryonic pattern specification	ISS	biological process
GO:0005634	nucleus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray