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ACVR1C

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ACVR1C
Identifiers
AliasesACVR1C, ACVRLK7, ALK7, activin A receptor type 1C
External IDsOMIM:608981;MGI:2661081;HomoloGene:26724;GeneCards:ACVR1C;OMA:ACVR1C - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ACVR1C
Genomic location for ACVR1C
Band2q24.1Start157,526,767bp[1]
End157,628,864bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for ACVR1C
Genomic location for ACVR1C
Band2|2 C1.1Start58,157,465bp[2]
End58,247,907bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • jejunal mucosa

  • adipose tissue

  • secondary oocyte

  • endothelial cell

  • islet of Langerhans

  • subcutaneous adipose tissue

  • testicle

  • buccal mucosa cell

  • lactiferous gland

  • abdominal fat
Top expressed in
  • brown adipose tissue

  • white adipose tissue

  • intercostal muscle

  • subcutaneous adipose tissue

  • Paneth cell

  • dorsal striatum

  • lumbar subsegment of spinal cord

  • substantia nigra

  • mammary gland

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

130399

269275

Ensembl

ENSG00000123612

ENSMUSG00000026834

UniProt

Q8NER5

Q8K348

RefSeq (mRNA)

NM_145259
NM_001111031
NM_001111032
NM_001111033

NM_001033369
NM_001111030

RefSeq (protein)

NP_001104501
NP_001104502
NP_001104503
NP_660302

NP_001028541
NP_001104500

Location (UCSC)Chr 2: 157.53 – 157.63 MbChr 2: 58.16 – 58.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Theactivin A receptor also known asACVR1C orALK-7 is a protein that in humans is encoded by the ACVR1Cgene.[5] ACVR1C is a type I receptor for theTGFB family of signaling molecules.[5]

ACVR1C transduces signals ofNodal.Nodal binds toACVR2B and then forms a complex with ACVR1C. These go on to recruit theR-SMADsSMAD2 orSMAD3.[6]

Upon ligand binding, type I receptorsphosphorylate cytoplasmicSMAD familytranscription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors.[5]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000123612Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000026834Ensembl, 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. ^abcBondestam J, Huotari MA, Morén A, Ustinov J, Kaivo-Oja N, Kallio J, Horelli-Kuitunen N, Aaltonen J, Fujii M, Moustakas A, Ten Dijke P, Otonkoski T, Ritvos O (2001). "cDNA cloning, expression studies and chromosome mapping of human type I serine/threonine kinase receptor ALK7 (ACVR1C)".Cytogenet. Cell Genet.95 (3–4):157–62.doi:10.1159/000059339.PMID 12063393.S2CID 30962803.
  6. ^Inman GJ, Nicolás FJ, Callahan JF, Harling JD, Gaster LM, Reith AD, Laping NJ, Hill CS (July 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.

External links

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Further reading

[edit]
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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