ACVRL1

GENERAL INFORMATION

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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

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RNA tissue category

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

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissue types.

ANTIBODY RELIABILITY

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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.

Data reliability

Uncertain based on 1 antibody.
HPA007041
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

94

UniProt

P37023 (UniProt - Evidence at protein level)

neXtProt

NX_P37023

Antibodypedia

ACVRL1 antibodies


PROTEIN BROWSER

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ENST00000388922
 
ENST00000419526
 
ENST00000547400
 
ENST00000550683
 
ENST00000551576
 
ENST00000552678
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACVRL1-001 ENSP00000373574
ENST00000388922
P37023
Show all »
Show » Show » 503 56.1 Yes 1
ACVRL1-002 ENSP00000447884
ENST00000550683
G3V1W8
Show all »
Show » Show » 517 57.5 Yes 1
ACVRL1-003 ENSP00000392492
ENST00000419526
E7EN07
Show all »
Show » Show » 329 37.2 Yes 0
ACVRL1-005 ENSP00000455848
ENST00000551576
D9IPD9
Show all »
Show » Show » 89 9.9 Yes 0
ACVRL1-006 ENSP00000446724
ENST00000547400
F8W0N2
Show all »
Show » Show » 159 17.8 Yes 0
ACVRL1-008 ENSP00000457394
ENST00000552678
Show » Show » 163 18.4 No 0