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ANGPT1 angiopoietin 1 [ Homo sapiens (human) ]

Gene ID: 284, updated on 4-Jan-2025

Summary

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Angioedema, hereditary, 5
MedGen: C5543508 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding PubMed 
enables protein binding PubMed 
enables receptor ligand activity PubMed 
enables receptor tyrosine kinase binding  
enables receptor tyrosine kinase binding PubMed 
Items 1 - 25 of 40
Process Evidence Code Pubs
involved_in Tie signaling pathway  
involved_in Tie signaling pathway PubMed 
involved_in activation of transmembrane receptor protein tyrosine kinase activity PubMed 
involved_in angiogenesis  
involved_in blood coagulation  
involved_in cell-substrate adhesion  
involved_in glomerulus vasculature development  
involved_in hemopoiesis  
involved_in heparin biosynthetic process PubMed 
involved_in in utero embryonic development  
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of cell adhesion PubMed 
involved_in negative regulation of cytokine production involved in immune response  
involved_in negative regulation of endothelial cell apoptotic process PubMed 
involved_in negative regulation of neuron apoptotic process  
involved_in negative regulation of protein import into nucleus  
involved_in negative regulation of vascular permeability PubMed 
involved_in neuron apoptotic process  
involved_in positive chemotaxis PubMed 
acts_upstream_of_or_within_positive_effect positive regulation of ERK1 and ERK2 cascade PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade PubMed 
involved_in positive regulation of blood vessel endothelial cell migration PubMed 
involved_in positive regulation of blood-brain barrier permeability PubMed 
involved_in positive regulation of cell adhesion  
involved_in positive regulation of coagulation PubMed 
involved_in positive regulation of endothelial cell migration PubMed 
involved_in positive regulation of gene expression PubMed 
involved_in positive regulation of peptidyl-tyrosine phosphorylation PubMed 
acts_upstream_of_or_within_positive_effect positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of protein phosphorylation PubMed 
involved_in positive regulation of protein ubiquitination PubMed 
involved_in positive regulation of receptor internalization PubMed 
involved_in protein localization to cell surface PubMed 
involved_in regulation of canonical NF-kappaB signal transduction  
NOT involved_in regulation of endothelial cell proliferation PubMed 
involved_in regulation of macrophage migration inhibitory factor signaling pathway  
involved_in regulation of skeletal muscle satellite cell proliferation PubMed 
involved_in regulation of tumor necrosis factor production  
involved_in sprouting angiogenesis PubMed 
Items 1 - 25 of 40
Component Evidence Code Pubs
is_active_in collagen-containing extracellular matrix  
located_in extracellular exosome PubMed 
located_in extracellular region  
is_active_in extracellular space  
located_in extracellular space PubMed 
located_in membrane raft PubMed 
located_in microvillus PubMed 
located_in plasma membrane PubMed 

NCBI Reference Sequences (RefSeq)

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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, Q5HYA0
    UniProtKB/TrEMBL
    B4E3G9
    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/TrEMBL
    B4E3G9
    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/TrEMBL
    B4DTQ9, E7ERK4
    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: 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_047421699.1XP_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_054360302.1XP_054216277.1  angiopoietin-1 isoform X1

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