Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

94

Name

ACVRL1

Synonymous

ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I;activin A receptor type II-like 1;ACVRL1;activin A receptor type II-like 1

Definition

TGF-B superfamily receptor type I|activin A receptor, type II-like kinase 1|serine/threonine-protein kinase receptor R3

Position

12q13.13

Gene Type

protein-coding

Gene Regulation:

ENCODE RegulomeDB
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

ENCODE RegulomeDB   [Top]

There is no record for ACVRL1

Transcription Factors   [Top]

Regulation From TransFac database

BMP6(h) + ALK-1(h) + ActR-II(m) <==> BMP6(h):ALK-1(h):ActR-II(m) (binding)
BMP6(h) + ALK-1(h) + ActR-IIB(m) <==> BMP6(h):ALK-1(h):ActR-IIB(m) (binding)
BMP6(h) + ALK-1(h) + BMPR-II(h) <==> BMP6(h):ALK-1(h):BMPR-II(h) (binding)
TGFbeta1(pg) + TGFbetaR-II(h) + ALK-1(h) <==> TGFbeta1(pg):TGFbetaR-II(h):ALK-1(h) (binding)
activin A(h) + ActR-II(h) + ALK-1(h) <==> activin A(h):ActR-II(h):ALK-1(h) (binding)
activin A(h) + ActR-IIB(h) + ALK-1(h) <==> activin A(h):ActR-IIB(h):ALK-1(h) (binding)
TGFbeta1(v.s.) + TGFbetaR-II(h) + ALK-1(h) <==> TGFbeta1(v.s.):TGFbetaR-II(h):ALK-1(h) (binding)
ALK-1(h) + LXR-beta(h) <==> ALK-1(h):LXR-beta(h) (binding)
ACVRL1(h) --> ALK-1(h) (expression).
Smad1(h) + NTP --ALK-1(h)--> Smad1(h){p} + NDP (phosphorylation)
LXR-beta(h) + NTP --ALK-1(h)--> LXR-beta(h){p} + NDP (phosphorylation)
ACVRL1(h) --> ALK-1(h) (expression).

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0

Methylation Profile   [Top]

Chromosome

Location

Source

chr12

Promoter: 50585969 - 50587969Agilent_014791

chr12

Promoter: 50585969 - 50587969GSE27584

chr12

Promoter: 50585969 - 50587969Agilent_014791_44K


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