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Entry version 149 (13 Feb 2019)
Sequence version 2 (15 Mar 2004)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • angiogenesis Source: UniProtKB-KW
  • cell adhesion Source: UniProtKB
  • positive regulation of angiogenesis Source: UniProtKB
  • positive regulation of endothelial cell proliferation Source: UniProtKB
  • vasculogenesis Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processAngiogenesis, Differentiation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6802952 Signaling by BRAF and RAF fusions

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8N302

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AGGF1
Synonyms:GPATC7, GPATCH7, VG5Q
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000164252.12

Human Gene Nomenclature Database

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HGNCi
HGNC:24684 AGGF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608464 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N302

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017901133E → K in KTS; in 5 patients; displays a stronger angiogenic activity. 1 PublicationCorresponds to variant dbSNP:rs34203073EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55109

MalaCards human disease database

More...
MalaCardsi
AGGF1
MIMi149000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164252

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90308 Klippel-Trenaunay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134951291

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AGGF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
45477317

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000644952 – 714Angiogenic factor with G patch and FHA domains 1Add BLAST713

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei7PhosphoserineCombined sources1
Modified residuei11PhosphoserineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei664N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8N302

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N302

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N302

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8N302

PeptideAtlas

More...
PeptideAtlasi
Q8N302

PRoteomics IDEntifications database

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PRIDEi
Q8N302

ProteomicsDB human proteome resource

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ProteomicsDBi
71746
71747 [Q8N302-2]
71748 [Q8N302-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N302

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N302

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q8N302

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000164252 Expressed in 224 organ(s), highest expression level in endometrium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N302 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N302 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the secreted angiogenic factor TNFSF12.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120419, 33 interactors

Protein interaction database and analysis system

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IntActi
Q8N302, 21 interactors

Molecular INTeraction database

More...
MINTi
Q8N302

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000316109

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8N302

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini434 – 487FHAPROSITE-ProRule annotationAdd BLAST54
Domaini619 – 665G-patchPROSITE-ProRule annotationAdd BLAST47

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili18 – 88Sequence analysisAdd BLAST71

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi12 – 15Poly-Pro4

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IQDU Eukaryota
ENOG410ZKVJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000111121

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000033843

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050465

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N302

Identification of Orthologs from Complete Genome Data

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OMAi
KNKKNWD

Database of Orthologous Groups

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OrthoDBi
683607at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N302

TreeFam database of animal gene trees

More...
TreeFami
TF315789

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00060 FHA, 1 hit
cd16164 OCRE_VG5Q, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR035624 AGGF1_OCRE
IPR000253 FHA_dom
IPR000467 G_patch_dom
IPR008984 SMAD_FHA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00498 FHA, 1 hit
PF01585 G-patch, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00240 FHA, 1 hit
SM00443 G_patch, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49879 SSF49879, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50006 FHA_DOMAIN, 1 hit
PS50174 G_PATCH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8F8H0Y8F8_HUMAN
Angiogenic factor with G patch and ...
AGGF1
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs34203073EnsemblClinVar.1
Natural variantiVAR_037446180T → A. Corresponds to variant dbSNP:rs9715897Ensembl.1
Natural variantiVAR_037447471L → P1 PublicationCorresponds to variant dbSNP:rs17856835Ensembl.1
Natural variantiVAR_017902698P → T1 PublicationCorresponds to variant dbSNP:rs34400049Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS4035.1 [Q8N302-1]

NCBI Reference Sequences

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RefSeqi
NP_060516.2, NM_018046.4 [Q8N302-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.634849

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000312916; ENSP00000316109; ENSG00000164252 [Q8N302-1]
ENST00000506806; ENSP00000424733; ENSG00000164252 [Q8N302-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55109

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55109

UCSC genome browser

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UCSCi
uc003kes.4 human [Q8N302-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 33 interactors
IntActiQ8N302, 21 interactors
MINTiQ8N302
STRINGi9606.ENSP00000316109

PTM databases

iPTMnetiQ8N302
PhosphoSitePlusiQ8N302

Polymorphism and mutation databases

BioMutaiAGGF1
DMDMi45477317

Proteomic databases

EPDiQ8N302
jPOSTiQ8N302
MaxQBiQ8N302
PaxDbiQ8N302
PeptideAtlasiQ8N302
PRIDEiQ8N302
ProteomicsDBi71746
71747 [Q8N302-2]
71748 [Q8N302-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55109
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

Comparative Toxicogenomics Database

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CTDi
55109
DisGeNETi55109
EuPathDBiHostDB:ENSG00000164252.12

GeneCards: human genes, protein and diseases

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GeneCardsi
AGGF1
HGNCiHGNC:24684 AGGF1
MalaCardsiAGGF1
MIMi149000 phenotype
608464 gene
neXtProtiNX_Q8N302
OpenTargetsiENSG00000164252
Orphaneti90308 Klippel-Trenaunay syndrome
PharmGKBiPA134951291

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IQDU Eukaryota
ENOG410ZKVJ LUCA
GeneTreeiENSGT00730000111121
HOGENOMiHOG000033843
HOVERGENiHBG050465
InParanoidiQ8N302
OMAiKNKKNWD
OrthoDBi683607at2759
PhylomeDBiQ8N302
TreeFamiTF315789

Enzyme and pathway databases

ReactomeiR-HSA-6802952 Signaling by BRAF and RAF fusions
SIGNORiQ8N302

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
AGGF1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AGGF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55109
PMAP-CutDBiQ8N302

Protein Ontology

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PROi
PR:Q8N302

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164252 Expressed in 224 organ(s), highest expression level in endometrium
ExpressionAtlasiQ8N302 baseline and differential
GenevisibleiQ8N302 HS

Family and domain databases

CDDicd00060 FHA, 1 hit
cd16164 OCRE_VG5Q, 1 hit
InterProiView protein in InterPro
IPR035624 AGGF1_OCRE
IPR000253 FHA_dom
IPR000467 G_patch_dom
IPR008984 SMAD_FHA_dom_sf
PfamiView protein in Pfam
PF00498 FHA, 1 hit
PF01585 G-patch, 1 hit
SMARTiView protein in SMART
SM00240 FHA, 1 hit
SM00443 G_patch, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
PROSITEiView protein in PROSITE
PS50006 FHA_DOMAIN, 1 hit
PS50174 G_PATCH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAGGF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N302
Secondary accession number(s): O00581
, Q53YS3, Q9BU84, Q9NW66
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: March 15, 2004
Last modified: February 13, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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