ACVRL1

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 (Chromosome progress)

Cytoband

q13.13

Chromosome location (bp)

52300692 - 52317145

Ensembl

ENSG00000139567 (version 73.37)

Entrez gene

94

UniProt

P37023 (UniProt - Evidence at protein level)

neXtProt

NX_P37023

Antibodypedia

ACVRL1 antibodies
 

PROTEIN VIEW

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

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 » 329 37.2 Yes 0
ACVRL1-005 ENSP00000455848
ENST00000551576
D9IPD9
Show all »
Show » 89 9.9 Yes 0
ACVRL1-006 ENSP00000446724
ENST00000547400
F8W0N2
Show all »
Show » 159 17.8 Yes 0
ACVRL1-008 ENSP00000457394
ENST00000552678
Show » 163 18.4 No 0