Reviewed, UniProtKB/Swiss-Prot Q8N302 (AGGF1_HUMAN)

Names and origin

Protein names

Recommended name:
    Angiogenic factor with G patch and FHA domains 1
Alternative name(s):
    Angiogenic factor VG5Q
    Vasculogenesis gene on 5q protein
      Short name=hVG5Q
    G patch domain-containing protein 7

Gene names

Name:	AGGF1
Synonyms:	GPATC7, GPATCH7, VG5Q

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	714 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.
Subunit structure	Interacts with the secreted angiogenic factor TNFSF12.
Subcellular location	Cytoplasm. Secreted. Note= Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted.
Tissue specificity	Widely expressed. Expressed in endothelial cells, vascular smooth muscle cells and osteoblasts. Expressed in umbilical vein endothelial cells and microvascular endothelial cells.
Involvement in disease	Defects in AGGF1 are a cause of Klippel-Trenaunay syndrome (KTS) [MIM:149000]. KTS is a 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.
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.

Ontologies

Keywords
Biological process	Angiogenesis Differentiation
Cellular component	Cytoplasm Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Coiled coil
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	RNA processing Traceable author statement. Source: UniProtKB cell adhesion Ref.1 Inferred from direct assay. Source: UniProtKB positive regulation of angiogenesis Ref.1 Inferred from direct assay. Source: UniProtKB positive regulation of endothelial cell proliferation Ref.1 Inferred from direct assay. Source: UniProtKB vasculogenesis Traceable author statement. Source: UniProtKB
Cellular component	extracellular region Ref.1 Inferred from direct assay. Source: UniProtKB perinuclear region of cytoplasm Ref.1 Inferred from direct assay. Source: UniProtKB
Molecular function	eukaryotic cell surface binding Ref.1 Inferred from direct assay. Source: UniProtKB nucleic acid binding Inferred from electronic annotation. Source: InterPro protein binding Ref.1 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

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.

Notes: 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.

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 714	714	Angiogenic factor with G patch and FHA domains 1		PRO_0000064495
Regions
	Domain	434 – 487	54	FHA
	Domain	619 – 665	47	G-patch
	Coiled coil	18 – 88	71	Potential
	Compositional bias	12 – 15	4	Poly-Pro
Natural variations
	Alternative sequence	72 – 109	38	EELSK…DYFYQ → RGPPQPRAPSSPGEAFEARD SLGRGPWQGLRTTVEYLK in isoform 2.		VSP_009631
	Alternative sequence	110 – 714	605	Missing in isoform 2.		VSP_009632
	Alternative sequence	173 – 176	4	EPAS → VIKC in isoform 3.		VSP_009633
	Alternative sequence	177 – 714	538	Missing in isoform 3.		VSP_009634
	Natural variant	133	1	E → K in KTS; in 5 patients; displays a stronger angiogenic activity. dbSNP rs34203073.		VAR_017901
	Natural variant	180	1	T → A: dbSNP rs9715897.		VAR_037446
	Natural variant	471	1	L → P: dbSNP rs17856835.		VAR_037447
	Natural variant	698	1	P → T: dbSNP rs34400049.		VAR_017902
Experimental info
	Sequence conflict	370	1	E → G Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 15, 2004. Version 2. Checksum: 3CC88FBDA9853EF1	FASTA	714	80,977
	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
	Isoform 2 [UniParc]. Checksum: D32F6109EEEA266C		109	12,459
	10 20 30 40 50 60 MASEAPSPPR SPPPPTSPEP ELAQLRRKVE KLERELRSCK RQVREIEKLL HHTERLYQNA 70 80 90 100 ESNNQELRTQ VRGPPQPRAP SSPGEAFEAR DSLGRGPWQG LRTTVEYLK
	Isoform 3 [UniParc]. Checksum: 252CB70D137AA28B		176	20,506
	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 VTELSDQQDQ AIETSILNSK DHLQVENDAY PGTDRTENVK YRQVDHFASN SQVIKC

References

	« Hide 'large scale' referencesShow '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: 14961121] [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: 15489334] [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 370-714 (ISOFORM 1). Tissue: Embryo and Uterus.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
RefSeq	NP_060516.2.
UniGene	Hs.634849
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N302.
Genome annotation databases
Ensembl	ENSG00000164252. Homo sapiens. [Contig view]
GeneID	55109.
KEGG	hsa:55109.
Organism-specific databases
H-InvDB	HIX0004964. HIX0038613.
HGNC	HGNC:24684. AGGF1.
MIM	149000. phenotype. 608464. gene.
Orphanet	2346. Angio-osteohypertrophic syndrome.
PharmGKB	PA134951291.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q8N302.
HOVERGEN	Q8N302.
Gene expression databases
ArrayExpress	Q8N302.
CleanEx	HS_AGGF1.
GermOnline	ENSG00000164252. Homo sapiens.
Family and domain databases
InterPro	IPR000253. FHA. IPR000467. G_patch. [Graphical view]
Gene3D	G3DSA:2.60.200.20. FHA. 1 hit.
Pfam	PF00498. FHA. 1 hit. PF01585. G-patch. 1 hit. [Graphical view]
SMART	SM00240. FHA. 1 hit. SM00443. G_patch. 1 hit. [Graphical view]
PROSITE	PS50006. FHA_DOMAIN. 1 hit. PS50174. G_PATCH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
LinkHub	Q8N302.
NextBio	58725.
SOURCE	Search...

Entry information

Entry name

AGGF1_HUMAN

Accession

Primary (citable) accession number: Q8N302
Secondary accession number(s): O00581 , Q53YS3, Q9BU84, Q9NW66

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 15, 2004
Last sequence update:	March 15, 2004
Last modified:	November 25, 2008
This is version 57 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)