AGGF1
Angiogenic factor with G patch and FHA domains 1
Also known as: AGGF1_HUMAN, FLJ10283, GPATC7, GPATCH7, HSU84971, VG5Q
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N302
- Gene
- AGGF1
- Ensembl
- ENSG00000164252
- Chromosome
- 5
- Canonical length
- 714 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
714 residues, UniProt reviewed canonical sequence.
>Q8N302|AGGF1
1 MASEAPSPPR SPPPPTSPEP ELAQLRRKVE KLERELRSCK RQVREIEKLL HHTERLYQNA
61 ESNNQELRTQ VEELSKILQR GRNEDNKKSD VEVQTENHAP WSISDYFYQT YYNDVSLPNK
121 VTELSDQQDQ AIETSILNSK DHLQVENDAY PGTDRTENVK YRQVDHFASN SQEPASALAT
181 EDTSLEGSSL AESLRAAAEA AVSQTGFSYD ENTGLYFDHS TGFYYDSENQ LYYDPSTGIY
241 YYCDVESGRY QFHSRVDLQP YPTSSTKQSK DKKLKKKRKD PDSSATNEEK DLNSEDQKAF
301 SVEHTSCNEE ENFANMKKKA KIGIHHKNSP PKVTVPTSGN TIESPLHENI SNSTSFKDEK
361 IMETDSEPEE GEITDSQTED SYDEAITSEG NVTAEDSEDE DEDKIWPPCI RVIVIRSPVL
421 QIGSLFIITA VNPATIGREK DMEHTLRIPE VGVSKFHAEI YFDHDLQSYV LVDQGSQNGT
481 IVNGKQILQP KTKCDPYVLE HGDEVKIGET VLSFHIHPGS DTCDGCEPGQ VRAHLRLDKK
541 DESFVGPTLS KEEKELERRK ELKKIRVKYG LQNTEYEDEK TLKNPKYKDR AGKRREQVGS
601 EGTFQRDDAP ASVHSEITDS NKGRKMLEKM GWKKGEGLGK DGGGMKTPIQ LQLRRTHAGL
661 GTGKPSSFED VHLLQNKNKK NWDKARERFT ENFPETKPQK DDPGTMPWVK GTLELocalizationUniProt · AlphaFold · HPA
Whether an antibody against AGGF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- retina: 21 nTPM
- epididymis: 20 nTPM
- testis: 15 nTPM
- parathyroid gland: 15 nTPM
- thymus: 13 nTPM
- duodenum: 13 nTPM
Single-cell type
- oocytes: 9.2 nCPM
- monocyte progenitors: 5.7 nCPM
- kupffer cells: 5.1 nCPM
- erythrocyte progenitors: 4.9 nCPM
- late primary spermatocytes: 4.8 nCPM
- cardiomyocytes: 4.7 nCPM
Immune cell
- eosinophil: 29 nTPM
- basophil: 18 nTPM
- naive CD4 T-cell: 16 nTPM
- T-reg: 16 nTPM
- NK-cell: 15 nTPM
- gdT-cell: 15 nTPM
Brain region
- white matter: 26 nTPM
- thalamus: 25 nTPM
- midbrain: 25 nTPM
- medulla oblongata: 24 nTPM
- pons: 24 nTPM
- hypothalamus: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AGGF1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 114 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Non-syndromic syndactyly
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.58
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.17
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- cell adhesion
- positive regulation of angiogenesis
- positive regulation of endothelial cell proliferation
- vasculogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Forkhead-associated (FHA) domain
- G-patch domain
- SMAD/FHA domain superfamily
- OCRE domain
- FHA domain
- G-patch domain
- OCRE domain
- AGGF1, OCRE domain
- Angiogenic factor with G patch and FHA domains 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AGGF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AGGF1 as an antibody target. Whether an autoantibody or antibody against AGGF1 could matter depends on whether native AGGF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AGGF1 is annotated as secreted, so native AGGF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label AGGF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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