Homo sapiens Gene: ACVRL1
Summary
InnateDB Gene IDBG-33826.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACVRL1
Gene Name activin A receptor type II-like 1
Synonyms ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I;
Species Homo sapiens
Ensembl Gene ENSG00000139567
Encoded Proteins
activin A receptor type II-like 1
activin A receptor type II-like 1
activin A receptor type II-like 1
activin A receptor type II-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:51906908-51923361
Strand Forward strand
Band q13.13
Transcripts
ENST00000388922 ENSP00000373574
ENST00000419526 ENSP00000392492
ENST00000551576 ENSP00000455848
ENST00000547400 ENSP00000446724
ENST00000550683 ENSP00000447884
ENST00000552678 ENSP00000457394
ENST00000547632
ENST00000550084
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 31 [view]
Protein-Protein 31 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004675 transmembrane receptor protein serine/threonine kinase activity
GO:0004702 receptor signaling protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005025 transforming growth factor beta receptor activity, type I
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016361 activin receptor activity, type I
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0019901 protein kinase binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048185 activin binding
GO:0050431 transforming growth factor beta binding
Biological Process
GO:0001525 angiogenesis
GO:0001701 in utero embryonic development
GO:0001936 regulation of endothelial cell proliferation
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001946 lymphangiogenesis
GO:0001955 blood vessel maturation
GO:0001974 blood vessel remodeling
GO:0002043 blood vessel endothelial cell proliferation involved in sprouting angiogenesis
GO:0006275 regulation of DNA replication
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0007162 negative regulation of cell adhesion
GO:0007165 signal transduction
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0008015 blood circulation
GO:0008217 regulation of blood pressure
GO:0008285 negative regulation of cell proliferation
GO:0010596 negative regulation of endothelial cell migration
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0023014 signal transduction by phosphorylation
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0030509 BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0032332 positive regulation of chondrocyte differentiation
GO:0032924 activin receptor signaling pathway
GO:0035313 wound healing, spreading of epidermal cells
GO:0043535 regulation of blood vessel endothelial cell migration
GO:0043537 negative regulation of blood vessel endothelial cell migration
GO:0045602 negative regulation of endothelial cell differentiation
GO:0045603 positive regulation of endothelial cell differentiation
GO:0045766 positive regulation of angiogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048514 blood vessel morphogenesis
GO:0051291 protein heterooligomerization
GO:0051895 negative regulation of focal adhesion assembly
GO:0060836 lymphatic endothelial cell differentiation
GO:0060840 artery development
GO:0060841 venous blood vessel development
GO:0061154 endothelial tube morphogenesis
GO:0061298 retina vasculature development in camera-type eye
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0071773 cellular response to BMP stimulus
GO:2000279 negative regulation of DNA biosynthetic process
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
KEGG
INOH
TGF-beta signaling pathway
BMP2 signaling pathway
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID BIOCARTA
PID NCI
ALK1 pathway
ALK1 signaling events
Cross-References
SwissProt P37023
TrEMBL B4DUF0 D9IPD9 E7EN07 F8W0N2 G3V1W8
UniProt Splice Variant
Entrez Gene 94
UniGene Hs.591026 Hs.600319
RefSeq NM_000020 NM_001077401 XM_005269235
HUGO HGNC:175
OMIM 601284
CCDS CCDS31804
HPRD
IMGT
EMBL AC025259 AK300619 BC042637 CH471111 HM161905 HM161906 L17075 U77707 U77708 U77709 U77710 U77711 U77712 U77713 Z22533
GenPept AAA16160 AAB61900 AAH42637 ADJ79922 ADJ79923 BAG62312 CAA80255 EAW58213 EAW58214
RNA Seq Atlas 102723650 94