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    ANGPT1 angiopoietin 1 [ Homo sapiens (human) ]

    Gene ID: 284, updated on 5-Jan-2022

    Summary

    Official Symbol
    ANGPT1provided by HGNC
    Official Full Name
    angiopoietin 1provided by HGNC
    Primary source
    HGNC:HGNC:484
    See related
    Ensembl:ENSG00000154188 MIM:601667
    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
    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
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    Genomic context

    See ANGPT1 in Genome Data Viewer
    Location:
    8q23.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (107249482..107497918, complement)
    105.20201022 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 phosphoglycerate mutase 1 pseudogene 13 Neighboring gene uncharacterized LOC105375703

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Angioedema, hereditary, 5
    MedGen: CN301157 OMIM: 619361 GeneReviews: Not available
    Compare labs

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables receptor tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Tie signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in cell differentiation 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 protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of vascular permeability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive chemotaxis 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 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-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein kinase B signaling 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 I-kappaB kinase/NF-kappaB signaling 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 protein binding 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
    PubMed 
    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
    PubMed 
    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 

    NCBI Reference Sequences (RefSeq)

    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_001146.5NP_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
      Related
      ENSP00000428340.1, ENST00000517746.6
      Conserved Domains (2) summary
      COG1196
      Location:81280
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00087
      Location:281496
      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_001199859.3NP_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/Swiss-Prot
      Q15389
      Related
      ENSP00000297450.3, ENST00000297450.7
      Conserved Domains (2) summary
      cd00087
      Location:280495
      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:105258
      Mplasa_alph_rch; helix-rich Mycoplasma protein
    3. NM_001314051.2NP_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/Swiss-Prot
      Q15389
      UniProtKB/TrEMBL
      B4DTQ9
      Related
      ENSP00000430750.1, ENST00000520734.5
      Conserved Domains (2) summary
      cd00087
      Location:81296
      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:250
      SHE3; SWI5-dependent HO expression protein 3

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

    RNA

    1. XR_928319.2 RNA Sequence

    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.
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