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Mothers against decapentaplegic homolog 5

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SMAD5
Identifiers
AliasesSMAD5, DWFC, JV5-1, MADH5, SMAD family member 5
External IDsOMIM:603110;MGI:1328787;HomoloGene:4313;GeneCards:SMAD5;OMA:SMAD5 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SMAD5
Genomic location for SMAD5
Band5q31.1Start136,132,845bp[1]
End136,188,747bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for SMAD5
Genomic location for SMAD5
Band13 B1|13 30.12 cMStart56,850,823bp[2]
End56,890,190bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of paranasal sinus

  • caput epididymis

  • tail of epididymis

  • lactiferous duct

  • corpus epididymis

  • nipple

  • germinal epithelium

  • superficial temporal artery

  • Achilles tendon

  • skin of hip
Top expressed in
  • genital tubercle

  • ventricular zone

  • tail of embryo

  • mandibular prominence

  • maxillary prominence

  • Paneth cell

  • stroma of kidney

  • ureter

  • medial ganglionic eminence

  • hair follicle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4090

17129

Ensembl

ENSG00000113658

ENSMUSG00000021540

UniProt

Q99717

P97454

RefSeq (mRNA)

NM_005903
NM_001001419
NM_001001420

NM_001164041
NM_001164042
NM_008541

RefSeq (protein)

NP_001001419
NP_001001420
NP_005894

NP_001157513
NP_001157514
NP_032567

Location (UCSC)Chr 5: 136.13 – 136.19 MbChr 13: 56.85 – 56.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mothers against decapentaplegic homolog 5 also known asSMAD5 is aprotein that in humans is encoded by theSMAD5gene.[5]

SMAD5, as its name describes, is a homolog of theDrosophila gene: "Mothers against decapentaplegic", based on a tradition of such unusual naming within the gene research community.[6] It belongs to theSMAD family of proteins, which belong to theTGFβ superfamily of modulators. Like many other TGFβ family members SMAD5 is involved incell signalling and modulates signals ofbone morphogenetic proteins (BMP's). The binding of ligands causes theoligomerization andphosphorylation of the SMAD5 protein. SMAD5 is areceptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase. It may play a role in the pathway where TGFβ is an inhibitor ofhematopoietic progenitor cells.

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000113658Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000021540Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B (July 1996). "Mad-related genes in the human".Nat. Genet.13 (3):347–9.doi:10.1038/ng0796-347.PMID 8673135.S2CID 10124489.
  6. ^"Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
TGF beta superfamily of ligands
Ligand ofACVR orTGFBR
Ligand ofBMPR
TGF beta receptors
(Activin,BMP,family)
TGFBR1:
TGFBR2:
TGFBR3:
Transducers/SMAD
Ligand inhibitors
Coreceptors
Other
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
Type I
ALK1 (ACVRL1)
ALK2 (ACVR1A)
ALK3 (BMPR1A)
ALK4 (ACVR1B)
ALK5 (TGFβR1)
ALK6 (BMPR1B)
ALK7 (ACVR1C)
Type II
TGFβR2
BMPR2
ACVR2A (ACVR2)
ACVR2B
AMHR2 (AMHR)
Type III
TGFβR3 (β-glycan)
Unsorted


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