ANGPT1 Gene (Protein Coding)

Angiopoietin 1

GC08M107246
GIFtS:
47
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 ... See more...

Aliases for ANGPT1 Gene

Aliases for ANGPT1 Gene

  • Angiopoietin 1 2 3 5
  • Angiopoietin-1 3 4
  • ANG-1 3 4
  • KIAA0003 4
  • AGP1 3
  • AGPT 3
  • ANG1 3

External Ids for ANGPT1 Gene

Previous GeneCards Identifiers for ANGPT1 Gene

  • GC08M108328
  • GC08M107930
  • GC08M108218
  • GC08M108330
  • GC08M103581

Summaries for ANGPT1 Gene

Entrez Gene Summary for ANGPT1 Gene

  • 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]

GeneCards Summary for ANGPT1 Gene

ANGPT1 (Angiopoietin 1) is a Protein Coding gene. Diseases associated with ANGPT1 include Angpt1-Related Hereditary Angioedema With Normal C1inh and Lipodermatosclerosis. Among its related pathways are RET signaling and Immune response IL-23 signaling pathway. 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.

UniProtKB/Swiss-Prot Summary for ANGPT1 Gene

  • Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme.

Gene Wiki entry for ANGPT1 Gene

Additional gene information for ANGPT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANGPT1 Gene

Genomics for ANGPT1 Gene

GeneHancer (GH) Regulatory Elements for ANGPT1 Gene

Promoters and enhancers for ANGPT1 Gene
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 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 758.6 +1.6 1631 4.4 CTCF MAX RAD21 POU5F1 TEAD4 MAFK BACH1 PRDM1 REST ATF1 ANGPT1 lnc-ABRA-2
GH08J107499 Enhancer 0.5 ENCODE 750.6 -1.5 -1463 0.4 CTCF ZNF580 BCOR ZNF143 KDM1A ZMYM3 HDAC2 SMARCA5 ANGPT1 ENSG00000286766
GH08J107321 Promoter 0.3 EPDnew 750.1 +176.0 176042 0.1 lnc-ABRA-2 ANGPT1 piR-56037-092
GH08J107334 Promoter/Enhancer 1.1 Ensembl dbSUPER 10.4 +161.9 161854 1.6 SMARCE1 CC2D1A DACH1 GTF2F1 MLLT1 TRIM24 MTA1 IKZF1 GTF2E2 ATF1 ANGPT1 lnc-ABRA-2
GH08J107525 Enhancer 0.7 Ensembl 12.1 -27.6 -27646 0.2 SMARCE1 BCL6B SMARCA4 DPF2 HDAC1 LEF1 EP300 STAT1 FOSL1 NCOR1 ANGPT1 ENSG00000286766 piR-49156-036
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANGPT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANGPT1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • IRF-1
  • IRF-2
  • Lmo2
  • STAT3

Genomic Locations for ANGPT1 Gene

Genomic Locations for ANGPT1 Gene
chr8:107,249,482-107,498,055
(GRCh38/hg38)
Size:
248,574 bases
Orientation:
Minus strand
chr8:108,261,710-108,510,283
(GRCh37/hg19)
Size:
248,574 bases
Orientation:
Minus strand

Genomic View for ANGPT1 Gene

Genes around ANGPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANGPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANGPT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ANGPT1 Gene

Proteins for ANGPT1 Gene

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  • Protein details for ANGPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15389-ANGP1_HUMAN
    Recommended name:
    Angiopoietin-1
    Protein Accession:
    Q15389
    Secondary Accessions:
    • Q5HYA0

    Protein attributes for ANGPT1 Gene

    Size:
    498 amino acids
    Molecular mass:
    57513 Da
    Quaternary structure:
    • Homooligomer. Interacts with TEK/TIE2.
    Miscellaneous:
    • It may have a potential therapeutic utility since it can be used for specifically targeting tumor vasculature or for promoting angiogenic processes in certain organs such as an ischemic heart.
    SequenceCaution:
    • Sequence=BAA02793.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANGPT1 Gene

    Alternative splice isoforms for ANGPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANGPT1 Gene

Protein Expression for ANGPT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ANGPT1 Gene

Other Protein References for ANGPT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ANGPT1

Protein Products

No data available for DME Specific Peptides for ANGPT1 Gene

Domains & Families for ANGPT1 Gene

Gene Families for ANGPT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ANGPT1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANGPT1 Gene

GenScript: Design optimal peptide antigens:
  • Angiopoietin-1 (ANGP1_HUMAN)
  • cDNA FLJ56604, highly similar to Angiopoietin-1 (B4DTQ9_HUMAN)
genes like me logo Genes that share domains with ANGPT1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANGPT1 Gene

Function for ANGPT1 Gene

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Molecular function for ANGPT1 Gene

UniProtKB/Swiss-Prot Function:
Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme.
GENATLAS Biochemistry:
angiopoietin 1,75kDa,secreted ligand for the vascular endothelial restricted receptor tyrosine kinase TEK,including phosphorylation of TEK,widely expressed,involved in late stages of angiogenesis,promoting angiogenic remodeling as well as vessel maturation and stabilization

LifeMap Function Summary for ANGPT1 Gene

During embryonic development, ANGPT1 as signaling molecule is secreted from the following cells

Phenotypes From GWAS Catalog for ANGPT1 Gene

Gene Ontology (GO) - Molecular Function for ANGPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0030971 receptor tyrosine kinase binding IEA,IPI 8980223
genes like me logo Genes that share ontologies with ANGPT1: view
genes like me logo Genes that share phenotypes with ANGPT1: view

Animal Models for ANGPT1 Gene

MGI Knock Outs for ANGPT1:

Animal Model Products

CRISPR Products

miRNA for ANGPT1 Gene

miRTarBase miRNAs that target ANGPT1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANGPT1 Gene

Localization for ANGPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANGPT1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANGPT1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for ANGPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 8980223
GO:0005886 plasma membrane IDA 19424712
GO:0005902 microvillus IDA 19424712
GO:0045121 membrane raft IDA 19615361
genes like me logo Genes that share ontologies with ANGPT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANGPT1 Gene

Pathways & Interactions for ANGPT1 Gene

PathCards logo

SuperPathways for ANGPT1 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
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
Rac1/Pak1/p38/MMP-2 pathway
.35
Angiopoietin receptor Tie2-mediated signaling
.33
5 Akt Signaling
Akt Signaling
.60
p38 Signaling
.60
Tec Kinases Signaling
.55
genes like me logo Genes that share pathways with ANGPT1: view

Pathways by source for ANGPT1 Gene

26 Qiagen pathways for ANGPT1 Gene
  • Akt Signaling
  • all-trans-Retinoic Acid Signaling in Brain
  • Angiopoietin-TIE2 Signaling
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway

SIGNOR curated interactions for ANGPT1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ANGPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001525 angiogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001936 NOT regulation of endothelial cell proliferation IDA 8980223
genes like me logo Genes that share ontologies with ANGPT1: view

Drugs & Compounds for ANGPT1 Gene

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  1. Drug

(26) Drugs for ANGPT1 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trebananib Investigational Pharma inhibitor 33
AMG 386 Pharma inhibitor 0
Trebaninib Pharma inhibitor Tie2R inhibitor 0

(20) Additional Compounds for ANGPT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANGPT1: view

Transcripts for ANGPT1 Gene

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  1. CRISPR
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mRNA/cDNA for ANGPT1 Gene

(4) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(75) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANGPT1 Gene

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: -

Relevant External Links for ANGPT1 Gene

GeneLoc Exon Structure for
ANGPT1
ECgene alternative splicing isoforms for
ANGPT1

Expression for ANGPT1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANGPT1 Gene

mRNA expression in normal human tissues for ANGPT1 Gene
mRNA expression by BioGPS for ANGPT1 GenemRNA expression by GTEx for ANGPT1 Gene

mRNA differential expression in normal tissues according to GTEx for ANGPT1 Gene

This gene is overexpressed in Artery - Tibial (x5.9).

Protein differential expression in normal tissues from HIPED for ANGPT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.5), Serum (20.2), CD8 Tcells (16.7), and Platelet (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANGPT1 Gene



Protein tissue co-expression partners for ANGPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANGPT1 Gene:

ANGPT1

SOURCE GeneReport for Unigene cluster for ANGPT1 Gene:

Hs.369675

Evidence on tissue expression from TISSUES for ANGPT1 Gene

  • Lung(4.5)
  • Bone marrow(4.4)
  • Liver(4.3)
  • Intestine(4.2)
  • Heart(3.2)
  • Blood(2.7)
  • Muscle(2.7)
  • Kidney(2.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ANGPT1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANGPT1 Gene

Orthologs for ANGPT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANGPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ANGPT1 33 32
  • 98.52 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ANGPT1 33 32
  • 95.57 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ANGPT1 33 32
  • 94.37 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Angpt1 17 33 32
  • 91.83 (n)
oppossum
(Monodelphis domestica)
 Mammalia ANGPT1 33
  • 91 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Angpt1 32
  • 90.88 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ANGPT1 33
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ANG-1 33
  • 92 (a)
 OneToOne
ANGPT1 32
  • 83.87 (n)
lizard
(Anolis carolinensis)
 Reptilia ANGPT1 33
  • 89 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia angpt1 32
  • 76.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii angpt1 33 32 32
  • 66.12 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG10359 34
  • 41 (a)
Species where no ortholog for ANGPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANGPT1 Gene

ENSEMBL:
Gene Tree for ANGPT1 (if available)
TreeFam:
Gene Tree for ANGPT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANGPT1: view image

Paralogs for ANGPT1 Gene

Paralogs for ANGPT1 Gene

(19) SIMAP similar genes for ANGPT1 Gene using alignment to 4 proteins:

  • ANGP1_HUMAN
  • B4DTQ9_HUMAN
  • E5RFF4_HUMAN
  • E7ERK4_HUMAN
genes like me logo Genes that share paralogs with ANGPT1: view

Variants for ANGPT1 Gene

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Sequence variations from dbSNP and Humsavar for ANGPT1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000008147 -- 107,438,640(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000024132 -- 107,384,238(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000038760 -- 107,431,995(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000079926 -- 107,333,486(-) T/C intron_variant
rs1000092211 -- 107,312,955(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANGPT1 Gene

Variant ID Type Subtype PubMed ID
dgv12253n54 CNV loss 21841781
dgv12254n54 CNV loss 21841781
dgv12255n54 CNV loss 21841781
dgv12256n54 CNV loss 21841781
dgv12257n54 CNV loss 21841781
dgv1301e199 CNV deletion 23128226
esv1401355 CNV deletion 17803354
esv1949347 CNV deletion 18987734
esv2508144 CNV deletion 19546169
esv26424 CNV loss 19812545
esv2737409 CNV deletion 23290073
esv2737410 CNV deletion 23290073
esv2737411 CNV deletion 23290073
esv2737412 CNV deletion 23290073
esv2737413 CNV deletion 23290073
esv2764100 CNV gain 21179565
esv3543978 CNV deletion 23714750
esv3543981 CNV deletion 23714750
esv3618330 CNV loss 21293372
esv4787 CNV loss 18987735
esv5345 CNV loss 18987735
esv7074 CNV loss 19470904
esv7982 CNV gain 19470904
esv996692 CNV deletion 20482838
nsv1028726 CNV gain 25217958
nsv1074790 CNV deletion 25765185
nsv1112474 CNV deletion 24896259
nsv1148448 CNV deletion 26484159
nsv1153904 CNV deletion 26484159
nsv396231 CNV deletion 16902084
nsv396372 CNV deletion 16902084
nsv397529 CNV deletion 16902084
nsv512058 CNV loss 21212237
nsv524618 CNV loss 19592680
nsv611851 CNV gain 21841781
nsv611862 CNV loss 21841781
nsv611867 CNV loss 21841781
nsv819326 CNV loss 19587683
nsv824702 CNV loss 20364138
nsv957669 CNV deletion 24416366
nsv958479 CNV deletion 24416366

Variation tolerance for ANGPT1 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANGPT1 Gene

Human Gene Mutation Database (HGMD)
ANGPT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANGPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANGPT1 Gene

Disorders for ANGPT1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ANGPT1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
angpt1-related hereditary angioedema with normal c1inh
  • angpt1-related hae with normal c1 inhibitor
lipodermatosclerosis
  • acute lipodermatosclerosis
chorioangioma
  • placental hemangioma
macrophage activation syndrome
epileptic encephalopathy, childhood-onset
  • eeoc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANGPT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANGPT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANGPT1 Gene

Publications for ANGPT1 Gene

  1. A functional variant in the 3'-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211. (PMID: 20378606) Chen J … Hui R (Human molecular genetics 2010) 3 23 43 56
  2. Biological characterization of angiopoietin-3 and angiopoietin-4. (PMID: 15284220) Lee HJ … Koh GY (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004) 3 4 23 56
  3. Isolation of angiopoietin-1, a ligand for the TIE2 receptor, by secretion-trap expression cloning. (PMID: 8980223) Davis S … Yancopoulos GD (Cell 1996) 3 4 23 56
  4. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 43 56
  5. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PMID: 20346360) Roberts KE … Pulmonary Vascular Complications of Liver Disease Study Group (Gastroenterology 2010) 3 43 56

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