• Gene id: 55109

Gene Summary

• Gene Symbol: AGGF1   Gene   UCSC   Ensembl
• Aliases: GPATC7, GPATCH7, HSU84971, HUS84971, VG5Q
• Gene name: angiogenic factor with G-patch and FHA domains 1
• Alternate names: angiogenic factor with G patch and FHA domains 1, G patch domain-containing protein 7, angiogenic factor VG5Q, vasculogenesis gene on 5q protein,
• Gene location: 5q13.3 (77030403: 77065233)     Exons: 14     NC_000005.10
• Gene summary(Entrez): This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided
• OMIM: 608464

Protein Summary

• Protein general information: Q8N302  
  • Name: Angiogenic factor with G patch and FHA domains 1 (Angiogenic factor VG5Q) (hVG5Q) (G patch domain containing protein 7) (Vasculogenesis gene on 5q protein)
  • Length: 714  
  • Mass: 80977
  • Tissue specificity: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells. {ECO
• Sequence:

  MASEAPSPPRSPPPPTSPEPELAQLRRKVEKLERELRSCKRQVREIEKLLHHTERLYQNAESNNQELRTQVEELS
  KILQRGRNEDNKKSDVEVQTENHAPWSISDYFYQTYYNDVSLPNKVTELSDQQDQAIETSILNSKDHLQVENDAY
  PGTDRTENVKYRQVDHFASNSQEPASALATEDTSLEGSSLAESLRAAAEAAVSQTGFSYDENTGLYFDHSTGFYY
  DSENQLYYDPSTGIYYYCDVESGRYQFHSRVDLQPYPTSSTKQSKDKKLKKKRKDPDSSATNEEKDLNSEDQKAF
  SVEHTSCNEEENFANMKKKAKIGIHHKNSPPKVTVPTSGNTIESPLHENISNSTSFKDEKIMETDSEPEEGEITD
  SQTEDSYDEAITSEGNVTAEDSEDEDEDKIWPPCIRVIVIRSPVLQIGSLFIITAVNPATIGREKDMEHTLRIPE
  VGVSKFHAEIYFDHDLQSYVLVDQGSQNGTIVNGKQILQPKTKCDPYVLEHGDEVKIGETVLSFHIHPGSDTCDG
  CEPGQVRAHLRLDKKDESFVGPTLSKEEKELERRKELKKIRVKYGLQNTEYEDEKTLKNPKYKDRAGKRREQVGS
  EGTFQRDDAPASVHSEITDSNKGRKMLEKMGWKKGEGLGKDGGGMKTPIQLQLRRTHAGLGTGKPSSFEDVHLLQ
  NKNKKNWDKARERFTENFPETKPQKDDPGTMPWVKGTLE

• Structural information:
  • Protein Domains: (434..48-)
    (/note="FHA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00086-)
    (619..66-)
    (/note="G-patch-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00092"-)
  • Interpro: IPR035624  IPR000253  IPR000467  IPR041591  IPR008984  
  • Prosite: PS50006 PS50174
  • CDD: cd00060 cd16164
  • STRING: ENSP00000316109
• Other Databases: GeneCards:  AGGF1  Malacards:  AGGF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045766	positive regulation of angiogenesis	IBA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0001525	angiogenesis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007155	cell adhesion	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045766	positive regulation of angiogenesis	IDA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0005576	extracellular region	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0001570	vasculogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray