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    ANGPT1 angiopoietin 1 [ Homo sapiens (human) ]

    Gene ID: 284, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ANGPT1provided by HGNC
    Official Full Name
    angiopoietin 1provided by HGNC
    Primary source
    HGNC:HGNC:484
    See related
    Ensembl:ENSG00000154188 MIM:601667; AllianceGenome:HGNC:484
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGP1; AGPT; ANG1; HAE5; AGPT-1
    Summary
    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]
    Expression
    Broad expression in fat (RPKM 19.0), lung (RPKM 14.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANGPT1 in Genome Data Viewer
    Location:
    8q23.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (107249482..107497918, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (108377097..108625564, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (108261710..108510146, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375701 Neighboring gene high mobility group box 1 pseudogene 46 Neighboring gene uncharacterized LOC124902067 Neighboring gene MPRA-validated peak7142 silencer Neighboring gene MPRA-validated peak7143 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:108441063-108441564 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:108441565-108442064 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:108452124-108452320 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:108456962-108457507 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:108457806-108458328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:108458329-108458849 Neighboring gene MPRA-validated peak7144 silencer Neighboring gene phosphoglycerate mutase 1 pseudogene 13 Neighboring gene uncharacterized LOC105375703

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Potential of l-thyroxine to differentiate osteoblast-like cells via Angiopoietin1. Park SH, et al. Biochem Biophys Res Commun, 2016 Sep 23. PMID 27569283
    2. The enigmatic role of angiopoietin-1 in tumor angiogenesis. Metheny-Barlow LJ, et al. Cell Res, 2003 Oct. PMID 14672554
    3. Recombinant human angiopoietin-1 ameliorates the expressions of ZO-1, occludin, VE-cadherin, and PKCα signaling after focal cerebral ischemia/reperfusion in rats. Yu H, et al. J Mol Neurosci, 2012 Jan. PMID 21710361
    4. Expression of angiopoietic factors in normal and type-I diabetes human placenta: a pilot study. Janota J, et al. Eur J Obstet Gynecol Reprod Biol, 2003 Dec 10. PMID 14597243
    5. Amplification of chromosome 8q21-qter associated with the acquired paclitaxel resistance of nasopharyngeal carcinoma cells. Li W, et al. Int J Clin Exp Pathol, 2015. PMID 26722421, Free PMC Article

    See all (331) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids.
      Title: Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids.
    2. Polymorphisms in TIE2 and ANGPT-1 genes are associated with protection against diabetic retinopathy in a Brazilian population.
      Title: Polymorphisms in TIE2 and ANGPT-1 genes are associated with protection against diabetic retinopathy in a Brazilian population.
    3. Increased Angiopoietin-1 and -2 levels in human vitreous are associated with proliferative diabetic retinopathy.
      Title: Increased Angiopoietin-1 and -2 levels in human vitreous are associated with proliferative diabetic retinopathy.
    4. Intracellular angiopoietin-1 promotes TKI-resistance via activation of JAK/STAT5 pathway in chronic myeloid leukemia.
      Title: Intracellular angiopoietin-1 promotes TKI-resistance via activation of JAK/STAT5 pathway in chronic myeloid leukemia.
    5. Prognostic value of tumour tissue ANG-1 expression and Ang-1 concentration in patients with non-small-cell lung cancer.
      Title: Prognostic value of tumour tissue ANG-1 expression and Ang-1 concentration in patients with non-small-cell lung cancer.
    6. Preliminary observations on ANGPT1 and ANGPT2 polymorphisms in systemic sclerosis: ANGPT2 rs2442598 and rs3739390 are associated with disease susceptibility and diffuse disease subtype.
      Title: Preliminary observations on ANGPT1 and ANGPT2 polymorphisms in systemic sclerosis: ANGPT2 rs2442598 and rs3739390 are associated with disease susceptibility and diffuse disease subtype.
    7. Effect of HIV-1 Infection on Angiopoietin 1 and 2 Levels and Measures of Microvascular and Macrovascular Endothelial Dysfunction.
      Title: Effect of HIV-1 Infection on Angiopoietin 1 and 2 Levels and Measures of Microvascular and Macrovascular Endothelial Dysfunction.
    8. Diagnostic and prognostic significance of serum angiopoietin-1 and -2 concentrations in patients with pulmonary hypertension.
      Title: Diagnostic and prognostic significance of serum angiopoietin-1 and -2 concentrations in patients with pulmonary hypertension.
    9. Serum Angiopoietin-1 and -2 and VEGF are associated with severe disease in vivax malaria.
      Title: Serum Angiopoietin-1 and -2 and VEGF are associated with severe disease in vivax malaria.
    10. Intrinsic differences in the mechanisms of Tie2 binding to angiopoietins exploited by directed evolution to create an Ang2-selective ligand trap.
      Title: Intrinsic differences in the mechanisms of Tie2 binding to angiopoietins exploited by directed evolution to create an Ang2-selective ligand trap.
    Submit: New GeneRIF Correction See all GeneRIFs (282)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Angioedema, hereditary, 5
    MedGen: C5543508 OMIM: 619361 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of angiopoietin 1 (ANGPT1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables receptor tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables receptor tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Tie signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Tie signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activation of transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glomerulus vasculature development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cytokine production involved in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of endothelial cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of vascular permeability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of blood vessel endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of blood-brain barrier permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of coagulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of receptor internalization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of macrophage migration inhibitory factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of skeletal muscle satellite cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of tumor necrosis factor production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    angiopoietin-1
    Names
    ANG-1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029405.1 RefSeqGene

      Range
      5109..253545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146.5 → NP_001137.2  angiopoietin-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001137.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AP000428, BC152419, BX648814
      Consensus CDS
      CCDS6306.1
      UniProtKB/Swiss-Prot
      Q15389, Q5HYA0
      UniProtKB/TrEMBL
      B4E3G9
      Related
      ENSP00000428340.1, ENST00000517746.6
      Conserved Domains (2) summary
      COG1196
      Location:81 → 280
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00087
      Location:281 → 496
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

    2. NM_001199859.3 → NP_001186788.1  angiopoietin-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001186788.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1, which results in an isoform (2) that is one amino acid shorter than isoform 1.
      Source sequence(s)
      AB084454, AP000428, BX648814
      Consensus CDS
      CCDS56551.1
      UniProtKB/TrEMBL
      B4E3G9
      Related
      ENSP00000297450.3, ENST00000297450.7
      Conserved Domains (2) summary
      cd00087
      Location:280 → 495
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
      TIGR04523
      Location:105 → 258
      Mplasa_alph_rch; helix-rich Mycoplasma protein

    3. NM_001314051.2 → NP_001300980.1  angiopoietin-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC091010, AK300319, AP000428, BC152411
      Consensus CDS
      CCDS83313.1
      UniProtKB/TrEMBL
      B4DTQ9, E7ERK4
      Related
      ENSP00000430750.1, ENST00000520734.5
      Conserved Domains (2) summary
      cd00087
      Location:81 → 296
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
      pfam17078
      Location:2 → 50
      SHE3; SWI5-dependent HO expression protein 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      107249482..107497918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421699.1 → XP_047277655.1  angiopoietin-1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      108377097..108625564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360302.1 → XP_054216277.1  angiopoietin-1 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139290.1: Suppressed sequence

      Description
      NM_139290.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15389.2 GenPept UniProtKB/Swiss-Prot:Q15389

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Molecular Biology Databases
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