ACVR1

GENE INFORMATION

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Gene name

ACVR1 (HGNC Symbol)

Synonyms

ACVR1A, ACVRLK2, ALK2, SKR1

Description

activin A receptor, type I (HGNC Symbol)

Entrez gene summary

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

Chromosome

2 (Chromosome progress)

Cytoband

q24.1

Chromosome location (bp)

158592958 - 158732374

Ensembl

ENSG00000115170 (version 73.37)

Entrez gene

90

UniProt

Q04771 (UniProt - Evidence at protein level)

neXtProt

NX_Q04771

Antibodypedia

ACVR1 antibodies
 

PROTEIN VIEW

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ACVR1-001
 
ACVR1-002
 
ACVR1-003
 
ACVR1-004
 
ACVR1-005
 
ACVR1-006
 
ACVR1-007
 
ACVR1-009
 
ACVR1-201
 
 
 
 
 

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)

ACVR1-001 ENSP00000263640
ENST00000263640
Q04771
Show all »
Show » Show » 509 57.2 Yes 1
ACVR1-002 ENSP00000440091
ENST00000539637
F5GY91
Show all »
Show » Show » 73 8.1 Yes 0
ACVR1-003 ENSP00000387273
ENST00000409283
Q04771
Show all »
Show » Show » 509 57.2 Yes 1
ACVR1-004 ENSP00000400767
ENST00000424669
C9J1R3
Show all »
Show » Show » 71 7.8 Yes 0
ACVR1-005 ENSP00000401189
ENST00000440523
C9JHJ7
Show all »
Show » Show » 87 9.6 Yes 0
ACVR1-006 ENSP00000399322
ENST00000413751
C9JW28
Show all »
Show » 21 2.2 No 0
ACVR1-007 ENSP00000403006
ENST00000412025
C9JHJ7
Show all »
Show » Show » 87 9.6 Yes 0
ACVR1-009 ENSP00000387127
ENST00000410057
Q04771
Show all »
Show » Show » 509 57.2 Yes 1
ACVR1-201 ENSP00000405004
ENST00000434821
Q04771
Show all »
Show » Show » 509 57.2 Yes 1