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Aliases for AGGF1 Gene

Aliases for AGGF1 Gene

  • Angiogenic Factor With G-Patch And FHA Domains 1 2 3 5
  • G Patch Domain-Containing Protein 7 3 4
  • Vasculogenesis Gene On 5q Protein 3 4
  • Angiogenic Factor VG5Q 3 4
  • GPATCH7 3 4
  • GPATC7 3 4
  • VG5Q 3 4
  • Angiogenic Factor With G Patch And FHA Domains 1 3
  • HSU84971 3
  • HUS84971 3
  • 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 Venous Malformations, Multiple Cutaneous And Mucosal. Among its related pathways are HIV Life Cycle. 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

Enhancers for AGGF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F077029 0.5 ENCODE 16.6 +1.4 1421 2.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 AGGF1 ENSG00000250615 SNORA47 ZBED3-AS1 CRHBP
GH05F076778 0.6 Ensembl ENCODE 12.2 -249.8 -249824 1.3 ZFP64 RAD21 ZNF138 ZNF354C ZNF202 ZNF680 ZNF654 OVOL3 REST ZNF518A RPL7P23 F2RL1 AGGF1 RAP1BL GC05P076755
GH05F077644 2.8 VISTA Ensembl ENCODE 12.2 +616.0 616039 1.6 HDGF YBX1 GLI4 ZNF2 ZNF416 ZNF143 KLF7 ZNF548 ZNF202 ZNF263 RPL7P23 AGGF1 AP3B1 OTP GC05M077675
GH05F077166 0.6 Ensembl ENCODE 10.4 +138.9 138929 3.3 TBP PKNOX1 KLF17 BRCA1 RFX5 ZNF366 RCOR1 KLF7 FOS ZNF263 AGGF1 PDE8B HMGB1P35
GH05F076616 0.5 ENCODE 10.3 -411.6 -411620 1.3 PKNOX1 JUND EHMT2 AGGF1 F2RL2 GC05P076611
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AGGF1 on UCSC Golden Path with GeneCards custom track

Promoters for AGGF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001283397 1350 2000 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for AGGF1 Gene

Chromosome:
5
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

Genes around AGGF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGGF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for AGGF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AGGF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for AGGF1

No data available for DME Specific Peptides for AGGF1 Gene

Domains & Families for AGGF1 Gene

Gene Families for AGGF1 Gene

Protein Domains for AGGF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N302

UniProtKB/Swiss-Prot:

AGGF1_HUMAN :
  • Contains 1 FHA domain.
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:0003723 RNA binding IBA --
GO:0005515 protein binding IPI 14961121
genes like me logo Genes that share ontologies with AGGF1: view

Phenotypes for AGGF1 Gene

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

Human Phenotype Ontology for AGGF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AGGF1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 4
cytosol 3
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AGGF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 14961121
GO:0005737 cytoplasm IEA,IDA 14961121
GO:0016607 nuclear speck IBA --
GO:0048471 perinuclear region of cytoplasm IDA 14961121
GO:0071011 precatalytic spliceosome IBA --
genes like me logo Genes that share ontologies with AGGF1: view

Pathways & Interactions for AGGF1 Gene

SuperPathways for AGGF1 Gene

SuperPathway Contained pathways
1 HIV Life Cycle
.45
genes like me logo Genes that share pathways with AGGF1: view

Pathways by source for AGGF1 Gene

2 Reactome pathways for AGGF1 Gene

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:0006397 mRNA processing IBA --
genes like me logo Genes that share ontologies with AGGF1: view

No data available for SIGNOR curated interactions for AGGF1 Gene

Transcripts for AGGF1 Gene

Unigene Clusters for AGGF1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for AGGF1 Gene

This gene is overexpressed in Cerebrospinal fluid (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGGF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AGGF1 Gene:

AGGF1

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 expression patterns with AGGF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia AGGF1 34 35
  • 90.72 (n)
cow
(Bos Taurus)
Mammalia AGGF1 34 35
  • 89.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aggf1 34
  • 79.34 (n)
mouse
(Mus musculus)
Mammalia Aggf1 34 16 35
  • 79.25 (n)
oppossum
(Monodelphis domestica)
Mammalia AGGF1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGGF1 34 35
  • 70.97 (n)
lizard
(Anolis carolinensis)
Reptilia AGGF1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aggf1 34
  • 64.03 (n)
Str.19637 34
zebrafish
(Danio rerio)
Actinopterygii aggf1 35
  • 42 (a)
OneToOne
Dr.17256 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.661 34
fruit fly
(Drosophila melanogaster)
Insecta CG8079 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55D9A.2 35
  • 23 (a)
OneToOne
Species where no ortholog for AGGF1 was found in the sources mined by GeneCards:
  • 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

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
rs34203073 Klippel-Trenaunay syndrome (KTS) [MIM:149000] 77,035,624(+) CTATC(A/G)AAACT reference, missense
rs10039814 -- 77,044,348(+) TTCCT(G/T)AGGAT intron-variant
rs10072933 -- 77,051,638(+) agtta(C/T)gtagt intron-variant
rs10474486 -- 77,033,737(+) ACATT(A/G)TCTCA intron-variant
rs10474487 -- 77,044,037(+) aagag(A/G)cgctc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1027236 CNV gain 25217958
nsv823102 CNV gain 20364138
nsv830355 CNV gain 17160897
nsv968212 CNV duplication 23825009

Variation tolerance for AGGF1 Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGGF1 Gene

Human Gene Mutation Database (HGMD)
AGGF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGGF1

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

Disorders for AGGF1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AGGF1 Gene - From: Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
klippel-trenaunay-weber syndrome
  • klippel-trenaunay syndrome
venous malformations, multiple cutaneous and mucosal
  • multiple cutaneous and mucosal venous malformations
metatypical basal cell carcinoma
  • basosquamous carcinoma of skin
bladder urothelial carcinoma
  • bladder transitional cell carcinoma
proteus syndrome, somatic
  • proteus syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AGGF1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AGGF1

Genetic Association Database (GAD)
AGGF1
Human Genome Epidemiology (HuGE) Navigator
AGGF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGGF1
genes like me logo Genes that share disorders with AGGF1: view

No data available for Genatlas for AGGF1 Gene

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 22 46 64
  2. 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 46 64
  3. 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 22 64
  4. Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function. (PMID: 19556247) Fan C. … Wang Q.K. (J. Biol. Chem. 2009) 3 22 64
  5. Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (PMID: 16443853) Barker K.T. … Harper J. (J. Med. Genet. 2006) 3 22 64

Products for AGGF1 Gene

Sources for AGGF1 Gene

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