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Q8N302

- AGGF1_HUMAN

UniProt

Q8N302 - AGGF1_HUMAN

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Protein

Angiogenic factor with G patch and FHA domains 1

Gene

AGGF1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. nucleic acid binding Source: InterPro

GO - Biological processi

  1. angiogenesis Source: UniProtKB-KW
  2. cell adhesion Source: UniProtKB
  3. positive regulation of angiogenesis Source: UniProtKB
  4. positive regulation of endothelial cell proliferation Source: UniProtKB
  5. RNA processing Source: UniProtKB
  6. vasculogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Angiogenesis, Differentiation

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:24684. AGGF1.

Subcellular locationi

Cytoplasm 1 Publication. Secreted 1 Publication
Note: Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. extracellular region Source: UniProtKB
  3. perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Secreted

Pathology & Biotechi

Involvement in diseasei

Klippel-Trenaunay syndrome (KTS) [MIM:149000]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331E → K in KTS; in 5 patients; displays a stronger angiogenic activity. 1 Publication
Corresponds to variant rs34203073 [ dbSNP | Ensembl ].
VAR_017901

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi149000. phenotype.
Orphaneti90308. Klippel-Trenaunay syndrome.
PharmGKBiPA134951291.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 714713Angiogenic factor with G patch and FHA domains 1PRO_0000064495Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei664 – 6641N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8N302.
PaxDbiQ8N302.
PRIDEiQ8N302.

PTM databases

PhosphoSiteiQ8N302.

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

BgeeiQ8N302.
CleanExiHS_AGGF1.
ExpressionAtlasiQ8N302. baseline and differential.
GenevestigatoriQ8N302.

Organism-specific databases

HPAiHPA043500.

Interactioni

Subunit structurei

Interacts with the secreted angiogenic factor TNFSF12.1 Publication

Protein-protein interaction databases

BioGridi120419. 14 interactions.
IntActiQ8N302. 10 interactions.
MINTiMINT-1475154.
STRINGi9606.ENSP00000316109.

Structurei

3D structure databases

ProteinModelPortaliQ8N302.
SMRiQ8N302. Positions 435-518.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini434 – 48754FHAPROSITE-ProRule annotationAdd
BLAST
Domaini619 – 66547G-patchPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili18 – 8871Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi12 – 154Poly-Pro

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG270400.
GeneTreeiENSGT00730000111121.
HOGENOMiHOG000033843.
HOVERGENiHBG050465.
InParanoidiQ8N302.
OMAiQNTEYED.
OrthoDBiEOG7C2R1J.
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. Align

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 BAA91519.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAH29382.2 differs from that shown. Reason: Erroneous termination at position 708. Translated as Trp.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti370 – 3701E → G(PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331E → K in KTS; in 5 patients; displays a stronger angiogenic activity. 1 Publication
Corresponds to variant rs34203073 [ dbSNP | Ensembl ].
VAR_017901
Natural varianti180 – 1801T → A.
Corresponds to variant rs9715897 [ dbSNP | Ensembl ].
VAR_037446
Natural varianti471 – 4711L → P.1 Publication
Corresponds to variant rs17856835 [ dbSNP | Ensembl ].
VAR_037447
Natural varianti698 – 6981P → T.1 Publication
Corresponds to variant rs34400049 [ dbSNP | Ensembl ].
VAR_017902

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei72 – 10938EELSK…DYFYQ → RGPPQPRAPSSPGEAFEARD SLGRGPWQGLRTTVEYLK in isoform 2. 1 PublicationVSP_009631Add
BLAST
Alternative sequencei110 – 714605Missing in isoform 2. 1 PublicationVSP_009632Add
BLAST
Alternative sequencei173 – 1764EPAS → VIKC in isoform 3. 1 PublicationVSP_009633
Alternative sequencei177 – 714538Missing in isoform 3. 1 PublicationVSP_009634Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q8N302-3]
uc003ket.3. human. [Q8N302-1]

Polymorphism databases

DMDMi45477317.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS4035.1. [Q8N302-1 ]
RefSeqi NP_060516.2. NM_018046.4. [Q8N302-1 ]
UniGenei Hs.634849.

3D structure databases

ProteinModelPortali Q8N302.
SMRi Q8N302. Positions 435-518.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120419. 14 interactions.
IntActi Q8N302. 10 interactions.
MINTi MINT-1475154.
STRINGi 9606.ENSP00000316109.

PTM databases

PhosphoSitei Q8N302.

Polymorphism databases

DMDMi 45477317.

Proteomic databases

MaxQBi Q8N302.
PaxDbi Q8N302.
PRIDEi Q8N302.

Protocols and materials databases

DNASUi 55109.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312916 ; ENSP00000316109 ; ENSG00000164252 . [Q8N302-1 ]
ENST00000506806 ; ENSP00000424733 ; ENSG00000164252 . [Q8N302-3 ]
GeneIDi 55109.
KEGGi hsa:55109.
UCSCi uc003kes.3. human. [Q8N302-3 ]
uc003ket.3. human. [Q8N302-1 ]

Organism-specific databases

CTDi 55109.
GeneCardsi GC05P076362.
HGNCi HGNC:24684. AGGF1.
HPAi HPA043500.
MIMi 149000. phenotype.
608464. gene.
neXtProti NX_Q8N302.
Orphaneti 90308. Klippel-Trenaunay syndrome.
PharmGKBi PA134951291.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG270400.
GeneTreei ENSGT00730000111121.
HOGENOMi HOG000033843.
HOVERGENi HBG050465.
InParanoidi Q8N302.
OMAi QNTEYED.
OrthoDBi EOG7C2R1J.
PhylomeDBi Q8N302.
TreeFami TF315789.

Miscellaneous databases

ChiTaRSi AGGF1. human.
GeneWikii AGGF1.
GenomeRNAii 55109.
NextBioi 58725.
PMAP-CutDB Q8N302.
PROi Q8N302.
SOURCEi Search...

Gene expression databases

Bgeei Q8N302.
CleanExi HS_AGGF1.
ExpressionAtlasi Q8N302. baseline and differential.
Genevestigatori Q8N302.

Family and domain databases

Gene3Di 2.60.200.20. 1 hit.
InterProi IPR000253. FHA_dom.
IPR000467. G_patch_dom.
IPR008984. SMAD_FHA_domain.
[Graphical view ]
Pfami PF00498. FHA. 1 hit.
PF01585. G-patch. 1 hit.
[Graphical view ]
SMARTi SM00240. FHA. 1 hit.
SM00443. G_patch. 1 hit.
[Graphical view ]
SUPFAMi SSF49879. SSF49879. 1 hit.
PROSITEi PS50006. FHA_DOMAIN. 1 hit.
PS50174. G_PATCH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome."
    Tian X.-L., Kadaba R., You S.-A., Liu M., Timur A.A., Yang L., Chen Q., Szafranski P., Rao S., Wu L., Housman D.E., DiCorleto P.E., Driscoll D.J., Borrow J., Wang Q.
    Nature 427:640-645(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISEASE, INTERACTION WITH TNFSF12, VARIANT THR-698, VARIANT KTS LYS-133.
  2. Dickson M.C., Heather L.J., Lyle L., Clark L.N.C., Deutekom J.C.T., Wright T.J., Flint J., Frants R.R., Hewitt J.E.
    Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Fetus.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 438-714 (ISOFORM 1), VARIANT PRO-471.
    Tissue: Melanoma.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 370-714 (ISOFORM 1).
    Tissue: Embryo and Uterus.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  6. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-664, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 115 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

External Data

Dasty 3