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ANGPT1 angiopoietin 1 [ Homo sapiens (human) ]

Gene ID: 284, updated on 20-Dec-2019

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
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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]
Expression
Broad expression in fat (RPKM 19.0), lung (RPKM 14.2) and 20 other tissues See more
Orthologs

Genomic context

See ANGPT1 in Genome Data Viewer
Location:
8q23.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (107249482..107497918, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (108261710..108510254, 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

NHGRI GWAS Catalog

Description
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA 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
receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
Tie signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
activation of transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
glomerulus vasculature development ISS
Inferred from Sequence or Structural Similarity
more info
 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
heparin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cytokine secretion involved in immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of vascular permeability IDA
Inferred from Direct Assay
more info
PubMed 
positive chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of blood vessel endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell adhesion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of receptor internalization IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to cell surface IDA
Inferred from Direct Assay
more info
PubMed 
regulation of I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
NOT regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of macrophage migration inhibitory factor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
regulation of skeletal muscle satellite cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    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 ...
    cl25732
    Location:81256
    SMC_N; RecF/RecN/SMC N terminal domain
  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 ...
    cl25732
    Location:81256
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001314051.1NP_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)
    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 109.20191205

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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