Human Gene AGGF1 (ENST00000312916.12_4) from GENCODE V47lift37
  Description: angiogenic factor with G-patch and FHA domains 1 (from RefSeq NM_018046.5)
Gencode Transcript: ENST00000312916.12_4
Gencode Gene: ENSG00000164252.13_8
Transcript (Including UTRs)
   Position: hg19 chr5:76,326,229-76,361,059 Size: 34,831 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr5:76,326,592-76,359,077 Size: 32,486 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:76,326,229-76,361,059)mRNA (may differ from genome)Protein (714 aa)
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-  Comments and Description Text from UniProtKB
  ID: AGGF1_HUMAN
DESCRIPTION: RecName: Full=Angiogenic factor with G patch and FHA domains 1; AltName: Full=Angiogenic factor VG5Q; Short=hVG5Q; AltName: Full=G patch domain-containing protein 7; AltName: Full=Vasculogenesis gene on 5q protein;
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.
SUBUNIT: Interacts with the secreted angiogenic factor TNFSF12.
SUBCELLULAR LOCATION: Cytoplasm. Secreted. Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted.
TISSUE SPECIFICITY: Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.
DISEASE: Defects in AGGF1 are a cause of Klippel-Trenaunay syndrome (KTS) [MIM:149000]. KTS is a 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.
SIMILARITY: Contains 1 FHA domain.
SIMILARITY: Contains 1 G-patch domain.
SEQUENCE CAUTION: Sequence=AAH29382.2; Type=Erroneous termination; Positions=708; Note=Translated as Trp; Sequence=BAA91519.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AGGF1
Diseases sorted by gene-association score: klippel-trenaunay-weber syndrome* (354), venous malformations, multiple cutaneous and mucosal (12), metatypical basal cell carcinoma (11), bladder urothelial carcinoma (7), proteus syndrome, somatic (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.69 RPKM in Testis
Total median expression: 305.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -161.00363-0.444 Picture PostScript Text
3' UTR -448.101982-0.226 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000253 - FHA_dom
IPR000467 - G_patch_dom
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00498 - FHA domain
PF01585 - G-patch domain
PF12656 - G-patch domain
PF17780 - OCRE domain

SCOP Domains:
49879 - SMAD/FHA domain

ModBase Predicted Comparative 3D Structure on Q8N302
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0005515 protein binding

Biological Process:
GO:0001525 angiogenesis
GO:0001570 vasculogenesis
GO:0001938 positive regulation of endothelial cell proliferation
GO:0007155 cell adhesion
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0045766 positive regulation of angiogenesis

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC032844 - Homo sapiens angiogenic factor with G patch and FHA domains 1, mRNA (cDNA clone MGC:32998 IMAGE:5266978), complete cds.
BC002828 - Homo sapiens angiogenic factor with G patch and FHA domains 1, mRNA (cDNA clone IMAGE:3659316), complete cds.
U84971 - Homo sapiens fetal unknown mRNA, complete cds.
JD174589 - Sequence 155613 from Patent EP1572962.
AY500994 - Homo sapiens angiogenic factor VG5Q mRNA, complete cds.
JD153409 - Sequence 134433 from Patent EP1572962.
BC073864 - Homo sapiens angiogenic factor with G patch and FHA domains 1, mRNA (cDNA clone IMAGE:4498580).
JD271842 - Sequence 252866 from Patent EP1572962.
JD137786 - Sequence 118810 from Patent EP1572962.
JF432544 - Synthetic construct Homo sapiens clone IMAGE:100073767 angiogenic factor with G patch and FHA domains 1 (AGGF1) gene, encodes complete protein.
KJ902764 - Synthetic construct Homo sapiens clone ccsbBroadEn_12158 AGGF1 gene, encodes complete protein.
CU689558 - Synthetic construct Homo sapiens gateway clone IMAGE:100022692 5' read AGGF1 mRNA.
KJ899077 - Synthetic construct Homo sapiens clone ccsbBroadEn_08471 AGGF1 gene, encodes complete protein.
JD019035 - Sequence 59 from Patent EP1572962.
JD028323 - Sequence 9347 from Patent EP1572962.
JD033015 - Sequence 14039 from Patent EP1572962.
AK289394 - Homo sapiens cDNA FLJ75192 complete cds.
BX648120 - Homo sapiens mRNA; cDNA DKFZp686L1440 (from clone DKFZp686L1440).
BC015478 - Homo sapiens angiogenic factor with G patch and FHA domains 1, mRNA (cDNA clone IMAGE:3885345), partial cds.
AK001145 - Homo sapiens cDNA FLJ10283 fis, clone HEMBB1001339, weakly similar to DXS8237E PROTEIN.
JD309005 - Sequence 290029 from Patent EP1572962.
JD326193 - Sequence 307217 from Patent EP1572962.
JD411122 - Sequence 392146 from Patent EP1572962.
BC029382 - Homo sapiens angiogenic factor with G patch and FHA domains 1, mRNA (cDNA clone IMAGE:4252711), partial cds.
AK097255 - Homo sapiens cDNA FLJ39936 fis, clone SPLEN2021795.
JD548774 - Sequence 529798 from Patent EP1572962.
JD020774 - Sequence 1798 from Patent EP1572962.
JD032951 - Sequence 13975 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N302 (Reactome details) participates in the following event(s):

R-HSA-6802927 BRAF and RAF fusion mutant dimers are phosphorylated
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: AGGF1_HUMAN, ENST00000312916.1, ENST00000312916.10, ENST00000312916.11, ENST00000312916.2, ENST00000312916.3, ENST00000312916.4, ENST00000312916.5, ENST00000312916.6, ENST00000312916.7, ENST00000312916.8, ENST00000312916.9, GPATC7, GPATCH7, NM_018046, O00581, Q53YS3, Q8N302, Q9BU84, Q9NW66, uc317phk.1, uc317phk.2, VG5Q
UCSC ID: ENST00000312916.12_4
RefSeq Accession: NM_018046.5
Protein: Q8N302 (aka AGGF1_HUMAN or VG5Q_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.