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Q8N302 (AGGF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:AGGF1
Synonyms:GPATC7, GPATCH7, VG5Q
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length714 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1

Subunit structure

Interacts with the secreted angiogenic factor TNFSF12. Ref.1

Subcellular location

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

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Contains 1 FHA domain.

Contains 1 G-patch domain.

Sequence caution

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

The sequence BAA91519.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N302-1)

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.
Isoform 2 (identifier: Q8N302-2)

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.
Isoform 3 (identifier: Q8N302-3)

The sequence of this isoform differs from the canonical sequence as follows:
     173-176: EPAS → VIKC
     177-714: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.5
Chain2 – 714713Angiogenic factor with G patch and FHA domains 1
PRO_0000064495

Regions

Domain434 – 48754FHA
Domain619 – 66547G-patch
Coiled coil18 – 8871 Potential
Compositional bias12 – 154Poly-Pro

Amino acid modifications

Modified residue21N-acetylalanine Ref.5
Modified residue6641N6-acetyllysine Ref.6

Natural variations

Alternative sequence72 – 10938EELSK…DYFYQ → RGPPQPRAPSSPGEAFEARD SLGRGPWQGLRTTVEYLK in isoform 2.
VSP_009631
Alternative sequence110 – 714605Missing in isoform 2.
VSP_009632
Alternative sequence173 – 1764EPAS → VIKC in isoform 3.
VSP_009633
Alternative sequence177 – 714538Missing in isoform 3.
VSP_009634
Natural variant1331E → K in KTS; in 5 patients; displays a stronger angiogenic activity. Ref.1
Corresponds to variant rs34203073 [ dbSNP | Ensembl ].
VAR_017901
Natural variant1801T → A.
Corresponds to variant rs9715897 [ dbSNP | Ensembl ].
VAR_037446
Natural variant4711L → P. Ref.3
Corresponds to variant rs17856835 [ dbSNP | Ensembl ].
VAR_037447
Natural variant6981P → T. Ref.1
Corresponds to variant rs34400049 [ dbSNP | Ensembl ].
VAR_017902

Experimental info

Sequence conflict3701E → G Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 15, 2004. Version 2.
Checksum: 3CC88FBDA9853EF1

FASTA71480,977
        10         20         30         40         50         60 
MASEAPSPPR SPPPPTSPEP ELAQLRRKVE KLERELRSCK RQVREIEKLL HHTERLYQNA 

        70         80         90        100        110        120 
ESNNQELRTQ VEELSKILQR GRNEDNKKSD VEVQTENHAP WSISDYFYQT YYNDVSLPNK 

       130        140        150        160        170        180 
VTELSDQQDQ AIETSILNSK DHLQVENDAY PGTDRTENVK YRQVDHFASN SQEPASALAT 

       190        200        210        220        230        240 
EDTSLEGSSL AESLRAAAEA AVSQTGFSYD ENTGLYFDHS TGFYYDSENQ LYYDPSTGIY 

       250        260        270        280        290        300 
YYCDVESGRY QFHSRVDLQP YPTSSTKQSK DKKLKKKRKD PDSSATNEEK DLNSEDQKAF 

       310        320        330        340        350        360 
SVEHTSCNEE ENFANMKKKA KIGIHHKNSP PKVTVPTSGN TIESPLHENI SNSTSFKDEK 

       370        380        390        400        410        420 
IMETDSEPEE GEITDSQTED SYDEAITSEG NVTAEDSEDE DEDKIWPPCI RVIVIRSPVL 

       430        440        450        460        470        480 
QIGSLFIITA VNPATIGREK DMEHTLRIPE VGVSKFHAEI YFDHDLQSYV LVDQGSQNGT 

       490        500        510        520        530        540 
IVNGKQILQP KTKCDPYVLE HGDEVKIGET VLSFHIHPGS DTCDGCEPGQ VRAHLRLDKK 

       550        560        570        580        590        600 
DESFVGPTLS KEEKELERRK ELKKIRVKYG LQNTEYEDEK TLKNPKYKDR AGKRREQVGS 

       610        620        630        640        650        660 
EGTFQRDDAP ASVHSEITDS NKGRKMLEKM GWKKGEGLGK DGGGMKTPIQ LQLRRTHAGL 

       670        680        690        700        710 
GTGKPSSFED VHLLQNKNKK NWDKARERFT ENFPETKPQK DDPGTMPWVK GTLE 

« Hide

Isoform 2 [UniParc].

Checksum: D32F6109EEEA266C
Show »

FASTA10912,459
Isoform 3 [UniParc].

Checksum: 252CB70D137AA28B
Show »

FASTA17620,506

References

« Hide 'large scale' references
[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. expand/collapse author list , 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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_060516.2. NM_018046.4.
UniGeneHs.634849.

3D structure databases

ProteinModelPortalQ8N302.
SMRQ8N302. Positions 409-516.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120419. 10 interactions.
IntActQ8N302. 10 interactions.
MINTMINT-1475154.
STRING9606.ENSP00000316109.

PTM databases

PhosphoSiteQ8N302.

Polymorphism databases

DMDM45477317.

Proteomic databases

PaxDbQ8N302.
PRIDEQ8N302.

Protocols and materials databases

DNASU55109.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312916; ENSP00000316109; ENSG00000164252. [Q8N302-1]
ENST00000506806; ENSP00000424733; ENSG00000164252. [Q8N302-3]
GeneID55109.
KEGGhsa:55109.
UCSCuc003kes.3. human. [Q8N302-3]
uc003ket.3. human. [Q8N302-1]

Organism-specific databases

CTD55109.
GeneCardsGC05P076362.
HGNCHGNC:24684. AGGF1.
HPAHPA043500.
MIM149000. phenotype.
608464. gene.
neXtProtNX_Q8N302.
Orphanet90308. Klippel-Trenaunay syndrome.
PharmGKBPA134951291.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG270400.
HOGENOMHOG000033843.
HOVERGENHBG050465.
InParanoidQ8N302.
OMATVPWVKG.
OrthoDBEOG7C2R1J.
PhylomeDBQ8N302.
TreeFamTF315789.

Gene expression databases

ArrayExpressQ8N302.
BgeeQ8N302.
CleanExHS_AGGF1.
GenevestigatorQ8N302.

Family and domain databases

Gene3D2.60.200.20. 1 hit.
InterProIPR000253. FHA_dom.
IPR000467. G_patch_dom.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamPF00498. FHA. 1 hit.
PF01585. G-patch. 1 hit.
[Graphical view]
SMARTSM00240. FHA. 1 hit.
SM00443. G_patch. 1 hit.
[Graphical view]
SUPFAMSSF49879. SSF49879. 1 hit.
PROSITEPS50006. FHA_DOMAIN. 1 hit.
PS50174. G_PATCH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAGGF1. human.
GeneWikiAGGF1.
GenomeRNAi55109.
NextBio58725.
PMAP-CutDBQ8N302.
PROQ8N302.
SOURCESearch...

Entry information

Entry nameAGGF1_HUMAN
AccessionPrimary (citable) accession number: Q8N302
Secondary accession number(s): O00581 expand/collapse secondary AC list , Q53YS3, Q9BU84, Q9NW66
Entry history
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: March 15, 2004
Last modified: April 16, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM