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Gene name

Class

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Chromosome

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In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

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Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

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Antibodies

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ACVRL1
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene namei

Gene name according to HGNC.

ACVRL1

Gene descriptioni

Gene description according to HGNC.

Activin A receptor type II-like 1

Protein classi

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

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

Predicted localizationi

Protein localization predicted from several bioinformatic algorithms.

Read more

Intracellular,Membrane,Secreted

Number of transcriptsi

Number of protein-coding transcribed from this gene as defined by Ensembl.

6
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue categoryi

The RNA tissue category is based on mRNA expression levels in the analyzed tissues (RNA assay description). The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected. RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as well as RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project.

Read more

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

Protein evidencei

Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.

Evidence at protein level

Protein expressioni

A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based annotation.

"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.

Read more

Cytoplasmic expression in several tissue types.

DATA RELIABILITY

Data reliability
descriptioni

Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.

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

Reliability scorei

Reliability score (score description), divided into Supported, Approved, or Uncertain, is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.

Read more

Approved based on 1 antibody.
HPA007041
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARYi

Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.

RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.

Read more
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEWi

Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.

For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEWi

RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.

HPA dataseti

HPA dataset
RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.

RNA tissue category HPA
HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (placenta)
GTEx dataseti

GTEx dataset
RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.

RNA tissue category GTEx
GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataseti

FANTOM5 dataset
Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.

RNA tissue category FANTOM5
FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

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 BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.

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

PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.

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
Show all
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]
Show all
503 aa
56.1 kDa
Yes 1
ACVRL1-002
ENSP00000447884
ENST00000550683
G3V1W8 [Direct mapping]
Serine/threonine-protein kinase receptor
Show all
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
Show all
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
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: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

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