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Protein

Angiogenic factor with G patch and FHA domains 1

Gene

AGGF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

  • angiogenesis Source: UniProtKB-KW
  • cell adhesion Source: UniProtKB
  • mRNA processing Source: GO_Central
  • positive regulation of angiogenesis Source: UniProtKB
  • positive regulation of endothelial cell proliferation Source: UniProtKB
  • regulation of RNA splicing Source: GO_Central
  • RNA processing Source: UniProtKB
  • vasculogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Angiogenesis, Differentiation

Enzyme and pathway databases

ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.

Names & Taxonomyi

Protein namesi
Recommended name:
Angiogenic factor with G patch and FHA domains 1
Alternative name(s):
Angiogenic factor VG5Q
Short name:
hVG5Q
G patch domain-containing protein 7
Vasculogenesis gene on 5q protein
Gene namesi
Name:AGGF1
Synonyms:GPATC7, GPATCH7, VG5Q
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:24684. AGGF1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular region Source: UniProtKB
  • nuclear speck Source: GO_Central
  • perinuclear region of cytoplasm Source: UniProtKB
  • precatalytic spliceosome Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Secreted

Pathology & Biotechi

Involvement in diseasei

Klippel-Trenaunay syndrome (KTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCongenital 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.
See also OMIM:149000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017901133E → K in KTS; in 5 patients; displays a stronger angiogenic activity. 1 PublicationCorresponds to variant rs34203073dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55109.
MalaCardsiAGGF1.
MIMi149000. phenotype.
OpenTargetsiENSG00000164252.
Orphaneti90308. Klippel-Trenaunay syndrome.
PharmGKBiPA134951291.

Polymorphism and mutation databases

BioMutaiAGGF1.
DMDMi45477317.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000644952 – 714Angiogenic factor with G patch and FHA domains 1Add BLAST713

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei7PhosphoserineCombined sources1
Modified residuei11PhosphoserineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei664N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8N302.
MaxQBiQ8N302.
PaxDbiQ8N302.
PeptideAtlasiQ8N302.
PRIDEiQ8N302.

PTM databases

iPTMnetiQ8N302.
PhosphoSitePlusiQ8N302.

Miscellaneous databases

PMAP-CutDBQ8N302.

Expressioni

Tissue specificityi

Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.1 Publication

Gene expression databases

BgeeiENSG00000164252.
CleanExiHS_AGGF1.
ExpressionAtlasiQ8N302. baseline and differential.
GenevisibleiQ8N302. HS.

Organism-specific databases

HPAiHPA043500.

Interactioni

Subunit structurei

Interacts with the secreted angiogenic factor TNFSF12.1 Publication

Protein-protein interaction databases

BioGridi120419. 30 interactors.
IntActiQ8N302. 21 interactors.
MINTiMINT-1475154.
STRINGi9606.ENSP00000316109.

Structurei

3D structure databases

ProteinModelPortaliQ8N302.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini434 – 487FHAPROSITE-ProRule annotationAdd BLAST54
Domaini619 – 665G-patchPROSITE-ProRule annotationAdd BLAST47

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili18 – 88Sequence analysisAdd BLAST71

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi12 – 15Poly-Pro4

Sequence similaritiesi

Contains 1 FHA domain.PROSITE-ProRule annotation
Contains 1 G-patch domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IQDU. Eukaryota.
ENOG410ZKVJ. LUCA.
GeneTreeiENSGT00730000111121.
HOGENOMiHOG000033843.
HOVERGENiHBG050465.
InParanoidiQ8N302.
OMAiDHFASNS.
OrthoDBiEOG091G07G4.
PhylomeDBiQ8N302.
TreeFamiTF315789.

Family and domain databases

Gene3Di2.60.200.20. 1 hit.
InterProiIPR000253. FHA_dom.
IPR000467. G_patch_dom.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamiPF00498. FHA. 1 hit.
PF01585. G-patch. 1 hit.
[Graphical view]
SMARTiSM00240. FHA. 1 hit.
SM00443. G_patch. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
PS50174. G_PATCH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N302-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASEAPSPPR SPPPPTSPEP ELAQLRRKVE KLERELRSCK RQVREIEKLL
60 70 80 90 100
HHTERLYQNA ESNNQELRTQ VEELSKILQR GRNEDNKKSD VEVQTENHAP
110 120 130 140 150
WSISDYFYQT YYNDVSLPNK VTELSDQQDQ AIETSILNSK DHLQVENDAY
160 170 180 190 200
PGTDRTENVK YRQVDHFASN SQEPASALAT EDTSLEGSSL AESLRAAAEA
210 220 230 240 250
AVSQTGFSYD ENTGLYFDHS TGFYYDSENQ LYYDPSTGIY YYCDVESGRY
260 270 280 290 300
QFHSRVDLQP YPTSSTKQSK DKKLKKKRKD PDSSATNEEK DLNSEDQKAF
310 320 330 340 350
SVEHTSCNEE ENFANMKKKA KIGIHHKNSP PKVTVPTSGN TIESPLHENI
360 370 380 390 400
SNSTSFKDEK IMETDSEPEE GEITDSQTED SYDEAITSEG NVTAEDSEDE
410 420 430 440 450
DEDKIWPPCI RVIVIRSPVL QIGSLFIITA VNPATIGREK DMEHTLRIPE
460 470 480 490 500
VGVSKFHAEI YFDHDLQSYV LVDQGSQNGT IVNGKQILQP KTKCDPYVLE
510 520 530 540 550
HGDEVKIGET VLSFHIHPGS DTCDGCEPGQ VRAHLRLDKK DESFVGPTLS
560 570 580 590 600
KEEKELERRK ELKKIRVKYG LQNTEYEDEK TLKNPKYKDR AGKRREQVGS
610 620 630 640 650
EGTFQRDDAP ASVHSEITDS NKGRKMLEKM GWKKGEGLGK DGGGMKTPIQ
660 670 680 690 700
LQLRRTHAGL GTGKPSSFED VHLLQNKNKK NWDKARERFT ENFPETKPQK
710
DDPGTMPWVK GTLE
Length:714
Mass (Da):80,977
Last modified:March 15, 2004 - v2
Checksum:i3CC88FBDA9853EF1
GO
Isoform 2 (identifier: Q8N302-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-109: EELSKILQRG...PWSISDYFYQ → RGPPQPRAPS...GLRTTVEYLK
     110-714: Missing.

Note: No experimental confirmation available.
Show »
Length:109
Mass (Da):12,459
Checksum:iD32F6109EEEA266C
GO
Isoform 3 (identifier: Q8N302-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-176: EPAS → VIKC
     177-714: Missing.

Note: No experimental confirmation available.
Show »
Length:176
Mass (Da):20,506
Checksum:i252CB70D137AA28B
GO

Sequence cautioni

The sequence AAH29382 differs from that shown. Reason: Erroneous termination at position 708. Translated as Trp.Curated
The sequence BAA91519 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti370E → G (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017901133E → K in KTS; in 5 patients; displays a stronger angiogenic activity. 1 PublicationCorresponds to variant rs34203073dbSNPEnsembl.1
Natural variantiVAR_037446180T → A.Corresponds to variant rs9715897dbSNPEnsembl.1
Natural variantiVAR_037447471L → P.1 PublicationCorresponds to variant rs17856835dbSNPEnsembl.1
Natural variantiVAR_017902698P → T.1 PublicationCorresponds to variant rs34400049dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00963172 – 109EELSK…DYFYQ → RGPPQPRAPSSPGEAFEARD SLGRGPWQGLRTTVEYLK in isoform 2. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_009632110 – 714Missing in isoform 2. 1 PublicationAdd BLAST605
Alternative sequenceiVSP_009633173 – 176EPAS → VIKC in isoform 3. 1 Publication4
Alternative sequenceiVSP_009634177 – 714Missing in isoform 3. 1 PublicationAdd BLAST538

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY500994 mRNA. Translation: AAR97615.1.
AY500996 Genomic DNA. Translation: AAR97617.1.
U84971 mRNA. Translation: AAB60856.1.
BC002828 mRNA. Translation: AAH02828.1.
BC029382 mRNA. Translation: AAH29382.2. Sequence problems.
AK001145 mRNA. Translation: BAA91519.1. Different initiation.
CCDSiCCDS4035.1. [Q8N302-1]
RefSeqiNP_060516.2. NM_018046.4. [Q8N302-1]
UniGeneiHs.634849.

Genome annotation databases

EnsembliENST00000312916; ENSP00000316109; ENSG00000164252. [Q8N302-1]
ENST00000506806; ENSP00000424733; ENSG00000164252. [Q8N302-3]
GeneIDi55109.
KEGGihsa:55109.
UCSCiuc003kes.4. human. [Q8N302-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY500994 mRNA. Translation: AAR97615.1.
AY500996 Genomic DNA. Translation: AAR97617.1.
U84971 mRNA. Translation: AAB60856.1.
BC002828 mRNA. Translation: AAH02828.1.
BC029382 mRNA. Translation: AAH29382.2. Sequence problems.
AK001145 mRNA. Translation: BAA91519.1. Different initiation.
CCDSiCCDS4035.1. [Q8N302-1]
RefSeqiNP_060516.2. NM_018046.4. [Q8N302-1]
UniGeneiHs.634849.

3D structure databases

ProteinModelPortaliQ8N302.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120419. 30 interactors.
IntActiQ8N302. 21 interactors.
MINTiMINT-1475154.
STRINGi9606.ENSP00000316109.

PTM databases

iPTMnetiQ8N302.
PhosphoSitePlusiQ8N302.

Polymorphism and mutation databases

BioMutaiAGGF1.
DMDMi45477317.

Proteomic databases

EPDiQ8N302.
MaxQBiQ8N302.
PaxDbiQ8N302.
PeptideAtlasiQ8N302.
PRIDEiQ8N302.

Protocols and materials databases

DNASUi55109.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312916; ENSP00000316109; ENSG00000164252. [Q8N302-1]
ENST00000506806; ENSP00000424733; ENSG00000164252. [Q8N302-3]
GeneIDi55109.
KEGGihsa:55109.
UCSCiuc003kes.4. human. [Q8N302-1]

Organism-specific databases

CTDi55109.
DisGeNETi55109.
GeneCardsiAGGF1.
HGNCiHGNC:24684. AGGF1.
HPAiHPA043500.
MalaCardsiAGGF1.
MIMi149000. phenotype.
608464. gene.
neXtProtiNX_Q8N302.
OpenTargetsiENSG00000164252.
Orphaneti90308. Klippel-Trenaunay syndrome.
PharmGKBiPA134951291.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQDU. Eukaryota.
ENOG410ZKVJ. LUCA.
GeneTreeiENSGT00730000111121.
HOGENOMiHOG000033843.
HOVERGENiHBG050465.
InParanoidiQ8N302.
OMAiDHFASNS.
OrthoDBiEOG091G07G4.
PhylomeDBiQ8N302.
TreeFamiTF315789.

Enzyme and pathway databases

ReactomeiR-HSA-6802952. Signaling by BRAF and RAF fusions.

Miscellaneous databases

ChiTaRSiAGGF1. human.
GeneWikiiAGGF1.
GenomeRNAii55109.
PMAP-CutDBQ8N302.
PROiQ8N302.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164252.
CleanExiHS_AGGF1.
ExpressionAtlasiQ8N302. baseline and differential.
GenevisibleiQ8N302. HS.

Family and domain databases

Gene3Di2.60.200.20. 1 hit.
InterProiIPR000253. FHA_dom.
IPR000467. G_patch_dom.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamiPF00498. FHA. 1 hit.
PF01585. G-patch. 1 hit.
[Graphical view]
SMARTiSM00240. FHA. 1 hit.
SM00443. G_patch. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
PROSITEiPS50006. FHA_DOMAIN. 1 hit.
PS50174. G_PATCH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAGGF1_HUMAN
AccessioniPrimary (citable) accession number: Q8N302
Secondary accession number(s): O00581
, Q53YS3, Q9BU84, Q9NW66
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: March 15, 2004
Last modified: November 30, 2016
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.