• Gene id: 284

Gene Summary

• Gene Symbol: ANGPT1   Gene   UCSC   Ensembl
• Aliases: AGP1, AGPT, ANG1
• Gene name: angiopoietin 1
• Alternate names: angiopoietin-1, ANG-1,
• Gene location: 8q23.1 (107497917: 107249481)     Exons: 1     NC_000008.11
• Gene summary(Entrez): 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-
• OMIM: 601667

SNPs

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: Q15389  
  • Name: Angiopoietin 1 (ANG 1)
  • Length: 498  
  • Mass: 57513
• Sequence:

  MTVFLSFAFLAAILTHIGCSNQRRSPENSGRRYNRIQHGQCAYTFILPEHDGNCRESTTDQYNTNALQRDAPHVE
  PDFSSQKLQHLEHVMENYTQWLQKLENYIVENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTAEQTRKLTDVET
  QVLNQTSRLEIQLLENSLSTYKLEKQLLQQTNEILKIHEKNSLLEHKILEMEGKHKEELDTLKEEKENLQGLVTR
  QTYIIQELEKQLNRATTNNSVLQKQQLELMDTVHNLVNLCTKEGVLLKGGKREEEKPFRDCADVYQAGFNKSGIY
  TIYINNMPEPKKVFCNMDVNGGGWTVIQHREDGSLDFQRGWKEYKMGFGNPSGEYWLGNEFIFAITSQRQYMLRI
  ELMDWEGNRAYSQYDRFHIGNEKQNYRLYLKGHTGTAGKQSSLILHGADFSTKDADNDNCMCKCALMLTGGWWFD
  ACGPSNLNGMFYTAGQNHGKLNGIKWHYFKGPSYSLRSTTMMIRPLDF

• Structural information:
  • Protein Domains: (277..49-)
    (/note="Fibrinogen-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00739"-)
  • Interpro: IPR028843  IPR036056  IPR014716  IPR014715  IPR002181   IPR020837  
  • Prosite: PS00514 PS51406
  • CDD: cd00087
  • PDB: 4EPU 4JYO 4K0V
  • PDBsum: 4EPU 4JYO 4K0V
  • STRING: ENSP00000428340
• Other Databases: GeneCards:  ANGPT1  Malacards:  ANGPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905605	positive regulation of blood-brain barrier permeability	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0001525	angiogenesis	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0031589	cell-substrate adhesion	IBA	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0030971	receptor tyrosine kinase binding	IBA	molecular function
GO:0048014	Tie signaling pathway	IBA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0048014	Tie signaling pathway	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0043116	negative regulation of vascular permeability	IEA	biological process
GO:0042308	negative regulation of protein import into nucleus	IEA	biological process
GO:0032680	regulation of tumor necrosis factor production	IEA	biological process
GO:0031589	cell-substrate adhesion	IEA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:2000446	regulation of macrophage migration inhibitory factor signaling pathway	IEA	biological process
GO:0072012	glomerulus vasculature development	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043393	regulation of protein binding	IEA	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0002740	negative regulation of cytokine production involved in immune response	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IDA	biological process
GO:0043116	negative regulation of vascular permeability	IDA	biological process
GO:0043116	negative regulation of vascular permeability	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0002040	sprouting angiogenesis	IDA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0045121	membrane raft	IDA	cellular component
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IDA	biological process
GO:0005902	microvillus	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0002040	sprouting angiogenesis	IDA	biological process
GO:0001936	regulation of endothelial cell proliferation	IDA	NOT|biological process
GO:2000352	negative regulation of endothelial cell apoptotic process	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0048014	Tie signaling pathway	IDA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0014842	regulation of skeletal muscle satellite cell proliferation	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IDA	biological process
GO:0050918	positive chemotaxis	IDA	biological process
GO:0048014	Tie signaling pathway	IDA	biological process
GO:0034394	protein localization to cell surface	IDA	biological process
GO:0030210	heparin biosynthetic process	IDA	biological process
GO:0007162	negative regulation of cell adhesion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0072012	glomerulus vasculature development	ISS	biological process
GO:0030971	receptor tyrosine kinase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030971	receptor tyrosine kinase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04066	HIF-1 signaling pathway
hsa05323	Rheumatoid arthritis

Diseases

Associated diseases	References
Prostate cancer	PMID:11326698
Hypertension	PMID:16942942
Hypertension	PMID:18285514
Brain ischemia	PMID:17637706
Ovarian cancer	PMID:12138242
Transitional cell carcinoma	PMID:15517881
Endometrial adenocarcinoma	PMID:17295646
renal cell carcinoma	PMID:17505508
Diabetic retinopathy	PMID:12000720
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R