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ACVR1B

From Wikipedia, the free encyclopedia
Protein-coding gene in humans
ACVR1B
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

3H9R,3MTF,3OOM,3Q4U,4BGG,4C02,4DYM

Identifiers
AliasesACVR1B, ACTRIB, ACVRLK4, ALK4, SKR2, activin A receptor type 1B
External IDsOMIM:601300;MGI:1338944;HomoloGene:20906;GeneCards:ACVR1B;OMA:ACVR1B - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for ACVR1B
Genomic location for ACVR1B
Band12q13.13Start51,951,699bp[1]
End51,997,078bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for ACVR1B
Genomic location for ACVR1B
Band15 F1|15 56.48 cMStart101,071,948bp[2]
End101,111,565bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • middle temporal gyrus

  • pancreatic ductal cell

  • renal medulla

  • Brodmann area 23

  • beta cell

  • lateral nuclear group of thalamus

  • parotid gland

  • kidney tubule

  • Brodmann area 10
Top expressed in
  • transitional epithelium of urinary bladder

  • epithelium of stomach

  • hair follicle

  • skin of external ear

  • olfactory tubercle

  • prefrontal cortex

  • Paneth cell

  • nucleus accumbens

  • ventromedial nucleus

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

91

11479

Ensembl

ENSG00000135503

ENSMUSG00000000532

UniProt

P36896

Q61271

RefSeq (mRNA)

NM_004302
NM_020327
NM_020328

NM_007395

RefSeq (protein)

NP_004293
NP_064732
NP_064733

NP_031421

Location (UCSC)Chr 12: 51.95 – 52 MbChr 15: 101.07 – 101.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Activin receptor type-1B is aprotein that in humans is encoded by theACVR1Bgene.[5][6]

ACVR1B orALK-4 acts as a transducer ofactivin or activin-like ligands (e.g.,inhibin) signals. Activin binds to eitherACVR2A orACVR2B and then forms a complex with ACVR1B. These go on to recruit theR-SMADsSMAD2 orSMAD3.[7] ACVR1B also transduces signals ofnodal,GDF-1, andVg1; however, unlike activin, they require other coreceptor molecules such as the proteinCripto.[8]

Function

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Activins are dimeric growth and differentiation factors which belong to thetransforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting inphosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons.Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed.[6]

Interactions

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ACVR1B has been shown tointeract with

References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000135503Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000000532Ensembl, 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. ^ten Dijke P, Ichijo H, Franzén P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K (October 1993). "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity".Oncogene.8 (10):2879–87.PMID 8397373.
  6. ^ab"Entrez Gene: ACVR1B activin A receptor, type IB".
  7. ^Inman GJ, Nicolás FJ, Callahan JF, Harling JD, Gaster LM, Reith AD, Laping NJ, Hill CS (2002). "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7".Mol. Pharmacol.62 (1):65–74.doi:10.1124/mol.62.1.65.PMID 12065756.S2CID 15185199.
  8. ^Harrison CA, Gray PC, Koerber SC, Fischer W, Vale W (2003)."Identification of a functional binding site for activin on the type I receptor ALK4".J. Biol. Chem.278 (23):21129–35.doi:10.1074/jbc.M302015200.PMID 12665502.
  9. ^abDe Winter JP, De Vries CJ, Van Achterberg TA, Ameerun RF, Feijen A, Sugino H, De Waele P, Huylebroeck D, Verschueren K, Van Den Eijden-Van Raaij AJ (May 1996). "Truncated activin type II receptors inhibit bioactivity by the formation of heteromeric complexes with activin type I. receptors".Exp. Cell Res.224 (2):323–34.doi:10.1006/excr.1996.0142.PMID 8612709.
  10. ^Lebrun JJ, Takabe K, Chen Y, Vale W (January 1999)."Roles of pathway-specific and inhibitory Smads in activin receptor signaling".Mol. Endocrinol.13 (1):15–23.doi:10.1210/mend.13.1.0218.PMID 9892009.S2CID 26825706.
  11. ^Attisano L, Wrana JL, Montalvo E, Massagué J (March 1996)."Activation of signalling by the activin receptor complex".Mol. Cell. Biol.16 (3):1066–73.doi:10.1128/MCB.16.3.1066.PMC 231089.PMID 8622651.

External links

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Further reading

[edit]
PDB gallery
  • 1rw8: Crystal Structure of TGF-beta receptor I kinase with ATP site inhibitor
    1rw8: Crystal Structure of TGF-beta receptor I kinase with ATP site inhibitor
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
Non-specific serine/threonine protein kinases (EC 2.7.11.1)
Pyruvate dehydrogenase kinase (EC 2.7.11.2)
Dephospho-(reductase kinase) kinase (EC 2.7.11.3)
3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase (EC 2.7.11.4)
(isocitrate dehydrogenase (NADP+)) kinase (EC 2.7.11.5)
(tyrosine 3-monooxygenase) kinase (EC 2.7.11.6)
Myosin-heavy-chain kinase (EC 2.7.11.7)
Fas-activated serine/threonine kinase (EC 2.7.11.8)
Goodpasture-antigen-binding protein kinase (EC 2.7.11.9)
  • -
IκB kinase (EC 2.7.11.10)
cAMP-dependent protein kinase (EC 2.7.11.11)
cGMP-dependent protein kinase (EC 2.7.11.12)
Protein kinase C (EC 2.7.11.13)
Rhodopsin kinase (EC 2.7.11.14)
Beta adrenergic receptor kinase (EC 2.7.11.15)
G-protein coupled receptor kinases (EC 2.7.11.16)
Ca2+/calmodulin-dependent (EC 2.7.11.17)
Myosin light-chain kinase (EC 2.7.11.18)
Phosphorylase kinase (EC 2.7.11.19)
Elongation factor 2 kinase (EC 2.7.11.20)
Polo kinase (EC 2.7.11.21)
Serine/threonine-specific protein kinases (EC 2.7.11.21-EC 2.7.11.30)
Polo kinase (EC 2.7.11.21)
Cyclin-dependent kinase (EC 2.7.11.22)
(RNA-polymerase)-subunit kinase (EC 2.7.11.23)
Mitogen-activated protein kinase (EC 2.7.11.24)
MAP3K (EC 2.7.11.25)
Tau-protein kinase (EC 2.7.11.26)
(acetyl-CoA carboxylase) kinase (EC 2.7.11.27)
  • -
Tropomyosin kinase (EC 2.7.11.28)
  • -
Low-density-lipoprotein receptor kinase (EC 2.7.11.29)
  • -
Receptor protein serine/threonine kinase (EC 2.7.11.30)
MAP2K
Activity
Regulation
Classification
Kinetics
Types
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
Portal:
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