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Aliases for SMAD5 Gene

Aliases for SMAD5 Gene

  • SMAD Family Member 5 2 3 4
  • MADH5 3 4
  • JV5-1 3 4
  • MAD, Mothers Against Decapentaplegic Homolog 5 (Drosophila) 2
  • Mothers Against Decapentaplegic, Drosophila, Homolog Of, 5 3
  • SMAD, Mothers Against DPP Homolog 5 (Drosophila) 2
  • MAD, Mothers Against Decapentaplegic Homolog 5 3
  • Mothers Against Decapentaplegic Homolog 5 3
  • SMAD, Mothers Against DPP Homolog 5 3
  • SMA- And MAD-Related Protein 5 3
  • Mothers Against DPP Homolog 5 4
  • MAD Homolog 5 4
  • MADH5, 6
  • SMAD 5 4
  • HSmad5 4
  • Smad5 4
  • DWFC 3

External Ids for SMAD5 Gene

Previous Symbols for SMAD5 Gene

  • MADH5

Summaries for SMAD5 Gene

Entrez Gene Summary for SMAD5 Gene

  • 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]

GeneCards Summary for SMAD5 Gene

SMAD5 (SMAD Family Member 5) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and ERK Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and receptor signaling protein activity. An important paralog of this gene is SMAD1.

UniProtKB/Swiss-Prot for SMAD5 Gene

  • Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD)

Gene Wiki entry for SMAD5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD5 Gene

Genomics for SMAD5 Gene

Genomic Location for SMAD5 Gene

Start:
136,132,845 bp from pter
End:
136,188,747 bp from pter
Size:
55,903 bases
Orientation:
Plus strand

Genomic View for SMAD5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMAD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAD5 Gene

Regulatory Elements for SMAD5 Gene

Proteins for SMAD5 Gene

  • Protein details for SMAD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99717-SMAD5_HUMAN
    Recommended name:
    Mothers against decapentaplegic homolog 5
    Protein Accession:
    Q99717
    Secondary Accessions:
    • O14688
    • Q15798
    • Q9UQA1

    Protein attributes for SMAD5 Gene

    Size:
    465 amino acids
    Molecular mass:
    52258 Da
    Quaternary structure:
    • May form trimers with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit and SMURF1. Interacts with SUV39H1 and SUV39H2. Interacts (via MH2 domain) with LEMD3. Interacts with WWP1.

neXtProt entry for SMAD5 Gene

Proteomics data for SMAD5 Gene at MOPED

Post-translational modifications for SMAD5 Gene

  • Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase
  • Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys418

No data available for DME Specific Peptides for SMAD5 Gene

Domains for SMAD5 Gene

Gene Families for SMAD5 Gene

HGNC:

Suggested Antigen Peptide Sequences for SMAD5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99717

UniProtKB/Swiss-Prot:

SMAD5_HUMAN
Domain:
  • Contains 1 MH1 (MAD homology 1) domain.:
    • Q99717
  • Contains 1 MH2 (MAD homology 2) domain.:
    • Q99717
Family:
  • Belongs to the dwarfin/SMAD family.:
    • Q99717
genes like me logo Genes that share domains with SMAD5: view

Function for SMAD5 Gene

Molecular function for SMAD5 Gene

UniProtKB/Swiss-Prot Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD)

Gene Ontology (GO) - Molecular Function for SMAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005057 receptor signaling protein activity NAS 8673135
GO:0005515 protein binding IPI 15647271
GO:0030618 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS 19018011
genes like me logo Genes that share ontologies with SMAD5: view
genes like me logo Genes that share phenotypes with SMAD5: view

Animal Models for SMAD5 Gene

MGI Knock Outs for SMAD5:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SMAD5 Gene

Localization for SMAD5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAD5 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMAD5 Gene COMPARTMENTS Subcellular localization image for SMAD5 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
plasma membrane 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 9759503
GO:0005634 nucleus TAS 19018011
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SMAD5: view

Pathways for SMAD5 Gene

genes like me logo Genes that share pathways with SMAD5: view

Pathways by source for SMAD5 Gene

1 Sino Biological pathway for SMAD5 Gene
2 R&D Systems pathways for SMAD5 Gene
1 Cell Signaling Technology pathway for SMAD5 Gene

Gene Ontology (GO) - Biological Process for SMAD5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification --
GO:0001657 ureteric bud development IEA --
GO:0001880 Mullerian duct regression IEA --
GO:0002051 osteoblast fate commitment IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with SMAD5: view

Compounds for SMAD5 Gene

(2) Novoseek inferred chemical compound relationships for SMAD5 Gene

Compound -log(P) Hits PubMed IDs
threonine 41.1 2
serine 35.6 5
genes like me logo Genes that share compounds with SMAD5: view

Transcripts for SMAD5 Gene

Unigene Clusters for SMAD5 Gene

SMAD family member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: -
SP2:
SP3: - - - - - - - - - -
SP4: -
SP5: -
SP6:
SP7: - -

Relevant External Links for SMAD5 Gene

GeneLoc Exon Structure for
SMAD5
ECgene alternative splicing isoforms for
SMAD5

Expression for SMAD5 Gene

mRNA expression in normal human tissues for SMAD5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMAD5 Gene

SOURCE GeneReport for Unigene cluster for SMAD5 Gene Hs.167700

mRNA Expression by UniProt/SwissProt for SMAD5 Gene

Q99717-SMAD5_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with SMAD5: view

No data available for mRNA differential expression in normal tissues for SMAD5 Gene

Orthologs for SMAD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMAD5 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia SMAD5 35
  • 95.77 (n)
  • 100 (a)
SMAD5 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMAD5 35
  • 95.63 (n)
  • 100 (a)
SMAD5 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smad5 35
  • 91.68 (n)
  • 98.92 (a)
Smad5 16
Smad5 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMAD5 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMAD5 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smad5 35
  • 89.32 (n)
  • 99.57 (a)
chicken
(Gallus gallus)
Aves SMAD5 35
  • 85.52 (n)
  • 96.77 (a)
SMAD5 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAD5 36
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii madh5 35
smad5 35
  • 77.14 (n)
  • 91.21 (a)
smad5 36
  • 91 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mad 36
  • 64 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sma-2 36
  • 56 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3946 35
Species with no ortholog for SMAD5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SMAD5 Gene

ENSEMBL:
Gene Tree for SMAD5 (if available)
TreeFam:
Gene Tree for SMAD5 (if available)

Paralogs for SMAD5 Gene

Paralogs for SMAD5 Gene

genes like me logo Genes that share paralogs with SMAD5: view

Variants for SMAD5 Gene

Sequence variations from dbSNP and Humsavar for SMAD5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1190 -- 136,182,052(-) TTAAG(A/C)ATTTT utr-variant-3-prime
rs7031 -- 136,182,554(+) TTGTT(G/T)TGCTT utr-variant-3-prime
rs746993 -- 136,147,332(-) TTATA(A/C)CACTT intron-variant
rs746994 -- 136,147,324(-) CTTAA(C/T)GTATG intron-variant
rs875414 -- 136,162,553(+) GTGCT(A/G)ATTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMAD5 Gene

Variant ID Type Subtype PubMed ID
dgv1853e1 CNV Complex 17122850
nsv882932 CNV Loss 21882294
nsv508381 CNV Loss 20534489
nsv819700 CNV Loss 19587683

Relevant External Links for SMAD5 Gene

HapMap Linkage Disequilibrium report
SMAD5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD5 Gene

Disorders for SMAD5 Gene

(1) University of Copenhagen DISEASES for SMAD5 Gene

(4) Novoseek inferred disease relationships for SMAD5 Gene

Disease -log(P) Hits PubMed IDs
leukemia 0 2
colorectal cancer 0 2
tumors 0 1
cancer 0 2

Relevant External Links for SMAD5

Genetic Association Database (GAD)
SMAD5
Human Genome Epidemiology (HuGE) Navigator
SMAD5
genes like me logo Genes that share disorders with SMAD5: view

No data available for UniProtKB/Swiss-Prot for SMAD5 Gene

Publications for SMAD5 Gene

  1. Smad5 and DPC4 are key molecules in mediating BMP-2-induced osteoblastic differentiation of the pluripotent mesenchymal precursor cell line C2C12. (PMID: 9442019) Nishimura R. … Yoneda T. (J. Biol. Chem. 1998) 3 4 23
  2. Suv39h histone methyltransferases interact with Smads and cooperate in BMP-induced repression. (PMID: 15107829) Frontelo P. … Lechleider R.J. (Oncogene 2004) 3 4 23
  3. Smad5, a tumor suppressor candidate at 5q31.1, is hemizygously lost and not mutated in the retained allele in human leukemia cell line HL60. (PMID: 9264367) Zavadil J. … Michalova K. (Leukemia 1997) 3 4 23
  4. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J. … Mosser J. (Am. J. Hum. Genet. 2007) 3 23 48
  5. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PMID: 19211612) Shintani M. … Matsuoka R. (J. Med. Genet. 2009) 3 23 48

Products for SMAD5 Gene

Sources for SMAD5 Gene

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