ANGPT1 angiopoietin 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	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 EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Angpt1 (e-PCR), detects polymorphism
- UniSTS:471085

D11S3114 (e-PCR)
- UniSTS:152207

RH121046 (e-PCR)
- UniSTS:132267

Agpt (e-PCR), detects polymorphism
- UniSTS:166624

RH25244 (e-PCR)
- UniSTS:16614

RH17369 (e-PCR)
- UniSTS:81911

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 more info	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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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

NG_029405.1 RefSeqGene

Range

5109..253545

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

107249482..107497918 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

108377097..108625564 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.