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ACVRL1

GENERAL INFORMATION

Gene name

 ACVRL1

Gene description

 Activin A receptor type II-like 1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Membrane,Secreted

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (placenta)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissue types.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.

Reliability score

 Approved based on 1 antibody.
HPA007041
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ACVRL1 (HGNC Symbol)

Synonyms

 ACVRLK1, ALK1, HHT, HHT2, ORW2

Description

 Activin A receptor type II-like 1 (HGNC Symbol)

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]

Chromosome

 12

Cytoband

 q13.13

Chromosome location (bp)

 51906908 - 51923361

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000139567 (version 83.38)

Entrez gene

 94

UniProt

 P37023 (UniProt - Evidence at protein level)

neXtProt

 NX_P37023

Antibodypedia

 ACVRL1 antibodies

PROTEIN BROWSER
ACVRL1-001
ACVRL1-002
ACVRL1-003
ACVRL1-005
ACVRL1-006
ACVRL1-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACVRL1-001
ENSP00000373574
ENST00000388922
P37023 [Direct mapping]
Serine/threonine-protein kinase receptor R3
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Enzymes
   ENZYME proteins
   Transferases
   Kinases
   TKL Ser/Thr protein kinases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
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: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: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:0005887 [integral component of plasma membrane]
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: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:0009986 [cell surface]
GO:0010596 [negative regulation of endothelial cell migration]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0016020 [membrane]
GO:0016361 [activin receptor activity, type I]
GO:0019901 [protein kinase binding]
GO:0023014 [signal transduction by protein phosphorylation]
GO:0030308 [negative regulation of cell growth]
GO:0030336 [negative regulation of cell migration]
GO:0030425 [dendrite]
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:0043025 [neuronal cell body]
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:0046332 [SMAD binding]
GO:0046872 [metal ion binding]
GO:0048185 [activin binding]
GO:0048514 [blood vessel morphogenesis]
GO:0050431 [transforming growth factor beta binding]
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]
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 503 aa
56.1 kDa 		Yes 1
ACVRL1-002
ENSP00000447884
ENST00000550683
G3V1W8 [Direct mapping]
Serine/threonine-protein kinase receptor
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004675 [transmembrane receptor protein serine/threonine kinase activity]
GO:0004702 [receptor signaling protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0023014 [signal transduction by protein phosphorylation]
GO:0046872 [metal ion binding]
Show all
 517 aa
57.5 kDa 		Yes 1
ACVRL1-003
ENSP00000392492
ENST00000419526
E7EN07 [Direct mapping]
Receptor protein serine/threonine kinase
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004702 [receptor signaling protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway]
GO:0016021 [integral component of membrane]
GO:0023014 [signal transduction by protein phosphorylation]
Show all
 329 aa
37.2 kDa 		Yes 0
ACVRL1-005
ENSP00000455848
ENST00000551576
D9IPD9 [Direct mapping]
Activin A receptor type II-like kinase 1 variant 3; Activin A receptor type II-like kinase 1 variant 4; Serine/threonine-protein kinase receptor R3
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004702 [receptor signaling protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway]
GO:0016020 [membrane]
GO:0023014 [signal transduction by protein phosphorylation]
Show all
 89 aa
9.9 kDa 		Yes 0
ACVRL1-006
ENSP00000446724
ENST00000547400
F8W0N2 [Direct mapping]
Receptor protein serine/threonine kinase
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004675 [transmembrane receptor protein serine/threonine kinase activity]
GO:0004702 [receptor signaling protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0023014 [signal transduction by protein phosphorylation]
Show all
 159 aa
17.8 kDa 		Yes 0
ACVRL1-008
ENSP00000457394
ENST00000552678
H3BTZ2 [Direct mapping]
Receptor protein serine/threonine kinase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004672 [protein kinase activity]
GO:0004702 [receptor signaling protein serine/threonine kinase activity]
GO:0005524 [ATP binding]
GO:0006468 [protein phosphorylation]
GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway]
GO:0016021 [integral component of membrane]
GO:0023014 [signal transduction by protein phosphorylation]
Show all
 163 aa
18.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.