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This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]
ANGPT1 (Angiopoietin 1) is a Protein Coding gene. Diseases associated with ANGPT1 include Angpt1-Related Hereditary Angioedema With Normal C1inh and Hereditary Angioedema. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and receptor tyrosine kinase binding. An important paralog of this gene is ANGPT2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J107494 | Promoter/Enhancer | 2.2 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 258.6 | +1.6 | 1631 | 4.4 | CTCF ZNF395 REST RAD21 ZNF316 FOSL1 PRDM6 ZKSCAN1 NFE2 ATF1 | ANGPT1 HSALNG0067635 lnc-ABRA-2 ABRA | |
GH08J107499 | Enhancer | 0.6 | ENCODE | 250.7 | -1.5 | -1463 | 0.4 | CTCF RAD21 HDAC2 ZNF143 ZMYM3 CHD4 KDM1A BCOR SMARCA5 ZNF580 | ANGPT1 ENSG00000286766 HSALNG0067635 RSPO2 | |
GH08J107321 | Promoter/Enhancer | 0.5 | EPDnew Ensembl | 250.1 | +176.4 | 176433 | 0.8 | lnc-ABRA-2 ANGPT1 piR-56037-092 ABRA | ||
GH08J107334 | Promoter/Enhancer | 1.1 | Ensembl dbSUPER | 10.4 | +161.9 | 161854 | 1.6 | MNT IKZF1 ARNT GTF2E2 TRIM25 TAF9B SKIL NKRF PRDM10 SUPT5H | ANGPT1 lnc-ABRA-2 HSALNG0067635 ABRA | |
GH08J107331 | Enhancer | 0.8 | ENCODE dbSUPER | 10.4 | +165.9 | 165850 | 1.3 | ZNF395 GTF2E2 ZNF316 SPI1 MAFG MAFF ZNF584 ZNF639 CEBPB MAFK | ANGPT1 lnc-ABRA-2 HSALNG0067635 ABRA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | -- |
GO:0030971 | receptor tyrosine kinase binding | IEA,IPI | 8980223 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 8980223 |
GO:0005886 | plasma membrane | IDA | 19424712 |
GO:0005902 | microvillus | IDA | 19424712 |
GO:0045121 | membrane raft | IDA | 19615361 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
|
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
|
3 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
|
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.40
|
4 | Immune response IL-23 signaling pathway |
Development Angiopoietin - Tie2 signaling
.38
Angiopoietin-TIE2 Signaling
.36
|
|
5 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0001525 | angiogenesis | IEA,IBA | 21873635 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001933 | negative regulation of protein phosphorylation | IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IMP | 19148554 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | ^ | 11 | ^ | 12a | · | 12b | · | 12c | · | 12d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANGPT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANGPT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ANGPT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Angpt1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ANGPT1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Angpt1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ANGPT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ANG-1 31 |
|
OneToOne | |
ANGPT1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | ANGPT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | angpt1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | angpt1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10359 32 |
|
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
979220 | Uncertain Significance: Hereditary angioedema type 3 | 107,284,777(-) |
C/G NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His) |
MISSENSE | |
rs146465357 | Conflicting Interpretations: Hereditary angioedema type 3; not provided | 107,284,736(-) |
C/T NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln) |
MISSENSE | |
rs147086219 | Benign: not provided | 107,497,331(-) |
C/T NM_001146.5(ANGPT1):c.228G>A (p.Pro76=) |
SYNONYMOUS | |
rs148142982 | Benign: not provided | 107,497,403(-) |
G/T NM_001146.5(ANGPT1):c.156C>A (p.Gly52=) |
SYNONYMOUS | |
rs749711766 | Likely Benign: not provided | 107,346,999(-) |
G/T NM_001146.5(ANGPT1):c.396C>A (p.Thr132=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
angpt1-related hereditary angioedema with normal c1inh |
|
|
hereditary angioedema |
|
|
angioedema |
|
|
lipodermatosclerosis |
|
|
adult respiratory distress syndrome |
|
|