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ANGPT1 angiopoietin 1 [ Homo sapiens (human) ]

Gene ID: 284, updated on 28-Nov-2021

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
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

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)

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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
    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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