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Aliases for AGGF1 Gene

Aliases for AGGF1 Gene

  • Angiogenic Factor With G Patch And FHA Domains 1 2 3
  • VG5Q 3 4 6
  • G Patch Domain-Containing Protein 7 3 4
  • Vasculogenesis Gene On 5q Protein 3 4
  • Angiogenic Factor VG5Q 3 4
  • HUS84971 3 6
  • GPATCH7 3 4
  • GPATC7 3 4
  • HSU84971 3
  • FLJ10283 6
  • HVG5Q 4

External Ids for AGGF1 Gene

Previous GeneCards Identifiers for AGGF1 Gene

  • GC05P076362
  • GC05P071532

Summaries for AGGF1 Gene

Entrez Gene Summary for AGGF1 Gene

  • 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 by RefSeq, Sep 2010]

GeneCards Summary for AGGF1 Gene

AGGF1 (Angiogenic Factor With G Patch And FHA Domains 1) is a Protein Coding gene. Diseases associated with AGGF1 include klippel-trenaunay-weber syndrome and coats disease. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for AGGF1 Gene

  • Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.

Gene Wiki entry for AGGF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGGF1 Gene

Genomics for AGGF1 Gene

Regulatory Elements for AGGF1 Gene

Genomic Location for AGGF1 Gene

Start:
77,029,251 bp from pter
End:
77,065,234 bp from pter
Size:
35,984 bases
Orientation:
Plus strand

Genomic View for AGGF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AGGF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGGF1 Gene

Proteins for AGGF1 Gene

  • Protein details for AGGF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N302-AGGF1_HUMAN
    Recommended name:
    Angiogenic factor with G patch and FHA domains 1
    Protein Accession:
    Q8N302
    Secondary Accessions:
    • O00581
    • Q53YS3
    • Q9BU84
    • Q9NW66

    Protein attributes for AGGF1 Gene

    Size:
    714 amino acids
    Molecular mass:
    80977 Da
    Quaternary structure:
    • Interacts with the secreted angiogenic factor TNFSF12.
    SequenceCaution:
    • Sequence=AAH29382.2; Type=Erroneous termination; Positions=708; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=BAA91519.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGGF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGGF1 Gene

Proteomics data for AGGF1 Gene at MOPED

Post-translational modifications for AGGF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGGF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AGGF1 Gene

Domains for AGGF1 Gene

Gene Families for AGGF1 Gene

HGNC:
  • GPATCH :G patch domain containing

Protein Domains for AGGF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N302

UniProtKB/Swiss-Prot:

AGGF1_HUMAN :
  • Q8N302
Domain:
  • Contains 1 FHA domain.
  • Contains 1 G-patch domain.
genes like me logo Genes that share domains with AGGF1: view

Function for AGGF1 Gene

Molecular function for AGGF1 Gene

UniProtKB/Swiss-Prot Function: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.

Gene Ontology (GO) - Molecular Function for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 14961121
genes like me logo Genes that share ontologies with AGGF1: view

Phenotypes for AGGF1 Gene

GenomeRNAi human phenotypes for AGGF1:
genes like me logo Genes that share phenotypes with AGGF1: view

miRNA for AGGF1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AGGF1 Gene

Localization for AGGF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGGF1 Gene

Cytoplasm. Secreted. Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AGGF1 Gene COMPARTMENTS Subcellular localization image for AGGF1 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 14961121
GO:0005737 cytoplasm IDA 14961121
GO:0048471 perinuclear region of cytoplasm IDA 14961121
genes like me logo Genes that share ontologies with AGGF1: view

Pathways for AGGF1 Gene

SuperPathways for AGGF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001570 vasculogenesis TAS 15905966
GO:0001938 positive regulation of endothelial cell proliferation IDA 14961121
GO:0006396 RNA processing TAS 15486042
GO:0007155 cell adhesion IDA 14961121
genes like me logo Genes that share ontologies with AGGF1: view

No data available for Pathways by source for AGGF1 Gene

Transcripts for AGGF1 Gene

Unigene Clusters for AGGF1 Gene

Angiogenic factor with G patch and FHA domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGGF1 Gene

No ASD Table

Relevant External Links for AGGF1 Gene

GeneLoc Exon Structure for
AGGF1
ECgene alternative splicing isoforms for
AGGF1

Expression for AGGF1 Gene

mRNA expression in normal human tissues for AGGF1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for AGGF1 Gene

SOURCE GeneReport for Unigene cluster for AGGF1 Gene Hs.634849

mRNA Expression by UniProt/SwissProt for AGGF1 Gene

Q8N302-AGGF1_HUMAN
Tissue specificity: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.
genes like me logo Genes that share expressions with AGGF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AGGF1 Gene

Orthologs for AGGF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGGF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGGF1 35
  • 99.44 (n)
  • 98.74 (a)
AGGF1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AGGF1 35
  • 89.6 (n)
  • 88.39 (a)
AGGF1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGGF1 35
  • 90.72 (n)
  • 88.17 (a)
AGGF1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aggf1 35
  • 79.25 (n)
  • 78.37 (a)
Aggf1 16
Aggf1 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AGGF1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aggf1 35
  • 79.34 (n)
  • 78.88 (a)
chicken
(Gallus gallus)
Aves AGGF1 35
  • 70.97 (n)
  • 65.05 (a)
AGGF1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGGF1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aggf1 35
  • 64.03 (n)
  • 59.61 (a)
Str.19637 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.661 35
zebrafish
(Danio rerio)
Actinopterygii aggf1 36
  • 42 (a)
OneToOne
Dr.17256 35
fruit fly
(Drosophila melanogaster)
Insecta CG8079 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55D9A.2 36
  • 23 (a)
OneToOne
Species with no ortholog for AGGF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGGF1 Gene

ENSEMBL:
Gene Tree for AGGF1 (if available)
TreeFam:
Gene Tree for AGGF1 (if available)

Paralogs for AGGF1 Gene

genes like me logo Genes that share paralogs with AGGF1: view

No data available for Paralogs for AGGF1 Gene

Variants for AGGF1 Gene

Sequence variations from dbSNP and Humsavar for AGGF1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs2545 -- 77,064,991(-) CTTTA(A/G)ATCTG utr-variant-3-prime
rs995743 -- 77,047,004(-) TCTCA(A/G)TTACA intron-variant
rs1428354 -- 77,034,531(+) TAGCT(C/T)ATAGT intron-variant
rs1428355 -- 77,034,576(+) CTAAT(A/G)TTGCG intron-variant
rs1582929 -- 77,057,225(-) ctaac(G/T)tgtaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AGGF1 Gene

Variant ID Type Subtype PubMed ID
nsv830355 CNV Gain 17160897
nsv823102 CNV Gain 20364138
nsv882212 CNV Gain 21882294

Relevant External Links for AGGF1 Gene

HapMap Linkage Disequilibrium report
AGGF1
Human Gene Mutation Database (HGMD)
AGGF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGGF1 Gene

Disorders for AGGF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for AGGF1 Gene including...

Search for AGGF1 Gene in MalaCards »

UniProtKB/Swiss-Prot

AGGF1_HUMAN
  • Klippel-Trenaunay syndrome (KTS) [MIM:149000]: Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. {ECO:0000269 PubMed:14961121}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for AGGF1 Gene

(2) Novoseek inferred disease relationships for AGGF1 Gene

Disease -log(P) Hits PubMed IDs
klippel-trenaunay syndrome 89.5 4
vascular diseases 43.2 2

Relevant External Links for AGGF1

Genetic Association Database (GAD)
AGGF1
Human Genome Epidemiology (HuGE) Navigator
AGGF1
genes like me logo Genes that share disorders with AGGF1: view

Publications for AGGF1 Gene

  1. The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. (PMID: 17103452) Gutierrez S. … Lapunzina P. (Am. J. Med. Genet. A 2006) 2 3 23 48
  2. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. (PMID: 14961121) Tian X.-L. … Wang Q. (Nature 2004) 3 4 23
  3. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. (PMID: 18564129) Hu Y. … Wang Q.K. (Ann. Hum. Genet. 2008) 2 3 48
  4. OCRE: a novel domain made of imperfect, aromatic-rich octamer repeats. (PMID: 15486042) Callebaut I. … Mornon J.P. (Bioinformatics 2005) 3 23
  5. Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. (PMID: 15905966) Timur A.A. … Wang Q. (Cell. Mol. Life Sci. 2005) 3 23

Products for AGGF1 Gene

Sources for AGGF1 Gene

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