AGGF1 Gene
protein-coding GIFtS: 53
GCID: GC05P076362
|
|
angiogenic factor with G patch and FHA domains 1
| |
Aliases
for AGGF1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Angiogenic Factor With G Patch And FHA Domains 11 2 | | Vasculogenesis Gene On 5q Protein2 3 | | VG5Q1 2 3 5 | | G Patch Domain-Containing Protein 72 3 | | GPATC71 2 3 | | FLJ102831 5 | | GPATCH71 2 3 | | HUS849712 5 | | HSU849711 2 | | HVG5Q1 | | Angiogenic Factor VG5Q2 3 | | |
Export aliases for AGGF1 gene to outside databasesPrevious GC identifer: GC05P071532 |
Summaries
for AGGF1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AGGF1:
This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene areassociated 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)
UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302Function: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells andpromote cell proliferation, suggesting that it may act in an autocrine fashion
Gene Wiki entry for AGGF1
|
Genomic Views
for AGGF1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AGGF1 gene promoter:
AML1a Pax-5 Nkx2-5 C/EBPalpha HNF-1A HEN1 POU2F1 POU2F1a HNF-1 En-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for AGGF1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGGF1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q13.3 Ensembl cytogenetic band: 5q13.3 HGNC cytogenetic band: 5q13.3AGGF1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P076362: view genomic region
(about GC identifiers)
Start:
|
76,325,076 bp from pter |
End:
|
76,361,059 bp from pter |
Size:
|
35,984 bases |
Orientation:
|
plus strand |
|
Proteins
for AGGF1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302 (See
protein sequence)Recommended Name: Angiogenic factor with G patch and FHA domains 1 Size: 714 amino acids; 80977 Da
Subunit: Interacts with the secreted angiogenic factor TNFSF12
Subcellular location: Cytoplasm. Secreted. Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, whenendothelial cell tube formation is initiated, it is secreted
Sequence caution: Sequence=AAH29382.2; Type=Erroneous termination; Positions=708; Note=Translated as Trp;Sequence=BAA91519.1; Type=Erroneous initiation;
Secondary accessions: O00581 Q53YS3 Q9BU84 Q9NW66Alternative splicing: 3 isoforms: Q8N302-1 Q8N302-2 Q8N302-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for AGGF1: NX_Q8N302
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8N302
AGGF1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060516.2
ENSEMBL proteins: ENSP00000316109 ENSP00000420874 ENSP00000424733
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
AGGF1 for ontologies About GeneDecksing
AGGF1 Antibody Products:
Assay Products for AGGF1: |
Protein
Domains /
Families
for AGGF1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AGGF1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8N302ProtoNet protein and cluster: Q8N302 2 Blocks protein families: IPB000253 Forkhead-associated (FHA) IPB000467 D111/G-patch domain
UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302Similarity: Contains 1 FHA domainSimilarity: Contains 1 G-patch domain |
Function
for AGGF1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302Function: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells andpromote cell proliferation, suggesting that it may act in an autocrine fashion
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AGGF1
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGGF1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
AGGF1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for AGGF1:
|
Pathways & Interactions
for AGGF1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AGGF1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
5/13 Interacting proteins for AGGF1 (Q8N3022, 3 ENSP000003161094) via UniProtKB, MINT, STRING, and/or I2D (see all 13)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
AGGF1 for ontologies About GeneDecksing
|
Drugs & Compounds
for AGGF1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AGGF1
Search CenterWatch for drugs/clinical trials and news about AGGF1
|
Transcripts
for AGGF1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AGGF1 gene: NM_018046.4 Unigene Cluster for AGGF1: Angiogenic factor with G patch and FHA domains 1 Hs.634849 [show with all ESTs]Unigene Representative Sequence: NM_0180464 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000503538 ENST00000312916(uc003ket.3 uc003keu.1) ENST00000502408
ENST00000506806(uc003kes.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AGGF1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AGGF1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Synthesis Service for AGGF1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGGF1 |
Additional cDNA sequence: AK001145.1 AK289394.1 AY500994.1 BC002828.2 BC015478.1 BC029382.1 BC032844.1 BC073864.1 BX648120.1 U84971.1 10 DOTS entries: DT.92040980 DT.100775620 DT.97786645 DT.75131502 DT.100775621 DT.308865 DT.120887337 DT.454597 DT.99938352 DT.99992984 24/177 AceView cDNA sequences (see all 177): BM998072 AI684006 AA548479 BC073864 AI142005 BE393942 AK097255 CK905615 BC002828 CB130693 AA262470 U84971 AA236887 BM745620 AA780163 BQ775503 AA565598 BQ083940 BQ083274 AI871734 BE349978 BM992941 BE674188 AI215746
GeneLoc Exon Structure
|
Expression
for AGGF1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AGGF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATAGCAAAT
About this image
See AGGF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AGGF1
SOURCE GeneReport for Unigene cluster: Hs.634849
UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302Tissue specificity: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts.Expressed in umbilical vein endothelial cells and microvascular endothelial cells
SABiosciences Expression via Pathway-Focused PCR Array including AGGF1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AGGF1
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGGF1 |
Orthologs
for AGGF1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for AGGF1 gene from 7/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Aggf11 , 5 |
angiogenic factor with G patch and FHA domains 11, 5 |
79.34(n)1
78.73(a)1 |
|
13 (49.41 cM)5
665491 NM_025630.21 NP_079906.21
953506835 |
chicken
(Gallus gallus) |
Aves |
AGGF11 |
angiogenic factor with G patch and FHA domains 1 |
70.7(n)
64.29(a) |
|
416364 XM_414679.3 XP_414679.3 |
lizard
(Anolis carolinensis) |
Reptilia |
AGGF16 |
-- |
56(a) |
1 ↔ 1 |
2(14036561-14054558) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.196372 |
Transcribed sequence with weak similarity to protein refNP_037435.1 (H.sapiens) fetal hypothetical protein [Homo sapiens] less |
77.98(n) |
|
BX781789.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.172562 |
Transcribed sequence with weak similarity to protein refNP_060516.1 (H.sapiens) hypothetical protein FLJ10283 [Homo sapiens] less |
74.06(n) |
|
AL911040.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG80791 |
CG8079 |
46.56(n)
36.28(a) |
|
36689 NM_166082.1 NP_725443.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
Y55D9A.21 |
Protein Y55D9A.2 |
41.68(n)
28.57(a) |
|
178216 NM_070013.3 NP_502414.1 |
ENSEMBL Gene Tree for AGGF1 (if available)
TreeFam Gene Tree for AGGF1 (if available) |
Paralogs
for AGGF1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AGGF1 gene
- RBM102 RBM62 RBM52
AGGF1 for paralogs About GeneDecksing
5/10 Pseudogenes.org Pseudogenes for AGGF1 (see all 10)
PGOHUM00000238971 PGOHUM00000248862 PGOHUM00000249103 PGOHUM00000249105 PGOHUM00000249107
|
Genomic Variants
for AGGF1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AGGF1 (76325076 - 76361059 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AGGF1: --
Human Gene Mutation Database (HGMD): AGGF1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AGGF1 |
|
Disorders
/ Diseases
for AGGF1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AGGF1 for disorders About GeneDecksing
OMIM gene information: 608464
OMIM disorders: --
UniProtKB/Swiss-Prot: AGGF1_HUMAN, Q8N302
Defects in AGGF1 are a cause of Klippel-Trenaunay syndrome (KTS) [MIM:149000]. KTS is a congenital diseasecharacterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bonyand soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and softtissues
5  diseases for AGGF1: About MalaCardsklippel-trenaunay syndrome klippel-trenaunay syndrome (kts) proteus syndrome overgrowth syndrome
neuroblastoma
3 diseases from the University of Copenhagen DISEASES database for AGGF1:Klippel-Trenaunay syndrome Coats disease Proteus syndrome 2 Novoseek disease relationships for AGGF1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: AGGF1 (2 documents)
Export disorders for AGGF1 gene to outside databases
|
Publications
for AGGF1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AGGF1 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with AGGF1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. (PubMed id 14961121)1, 2, 9 Tian X.-L.... Wang Q. (2004)
- The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. (PubMed id 17103452)1, 3, 9 Gutierrez S....Lapunzina P. (2006)
- Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. (PubMed id 18564129)1, 3 Hu Y....Wang Q.K. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Novel roles of GATA1 in regulation of angiogenic fact or AGGF1 and endothelial cell function. (PubMed id 19556247)1, 9 Fan C....Wang Q.K. (2009)
- Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? (PubMed id 16443853)1, 9 Barker K.T....Harper J. (2006)
- OCRE: a novel domain made of imperfect, aromatic-rich octamer repeats. (PubMed id 15486042)1, 9 Callebaut I. and Mornon J.P. (2005)
- Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. (PubMed id 15905966)1, 9 Timur A.A....Wang Q. (2005)
|
External Searches for AGGF1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AGGF1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AGGF1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AGGF1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AGGF1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AGGF1 gene:
Search GeneIP for patents involving AGGF1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AGGF1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGGF1 |
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