Reviewed, UniProtKB/Swiss-Prot Q9Y6D6 (BIG1_HUMAN)

Names and origin

Protein names

Recommended name:
    Brefeldin A-inhibited guanine nucleotide-exchange protein 1
      Short name=Brefeldin A-inhibited GEP 1
Alternative name(s):
    p200 ARF-GEP1
    p200 ARF guanine nucleotide exchange factor

Gene names

Name:	ARFGEF1
Synonyms:	ARFGEP1, BIG1

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	1849 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP.
Enzyme regulation	Inhibited by brefeldin A.
Subunit structure	Interacts with FKBP2.
Tissue specificity	Expressed in placenta, lung, heart, brain, kidney and pancreas.
Sequence similarities	Contains 1 SEC7 domain.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	exocytosis Ref.1 Traceable author statement. Source: ProtInc
Molecular function	guanyl-nucleotide exchange factor activity Inferred from direct assay. Source: UniProtKB myosin binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 1849	1849	Brefeldin A-inhibited guanine nucleotide-exchange protein 1
Regions
	Domain	709 – 840	132	SEC7
Amino acid modifications
	Modified residue	1569	1	Phosphoserine
Natural variations
	Natural variant	273	1	D → Y: dbSNP rs4321984.
	Natural variant	316	1	G → E in a colorectal cancer sample; somatic mutation.
Experimental info
	Sequence conflict	233	1	Q → P in AAD38427. Ref.1
	Sequence conflict	620	1	L → S in AAD38427. Ref.1
	Sequence conflict	1055	1	E → K in AAD38427. Ref.1
	Sequence conflict	1590	1	V → A in BAA91912. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9Y6D6-1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 1EB2547F28F63BCA	FASTA	1,849	208,767
	10 20 30 40 50 60 MYEGKKTKNM FLTRALEKIL ADKEVKKAHH SQLRKACEVA LEEIKAETEK QSPPHGEAKA 70 80 90 100 110 120 GSSTLPPVKS KTNFIEADKY FLPFELACQS KCPRIVSTSL DCLQKLIAYG HLTGNAPDST 130 140 150 160 170 180 TPGKKLIDRI IETICGCFQG PQTDEGVQLQ IIKALLTAVT SQHIEIHEGT VLQAVRTCYN 190 200 210 220 230 240 IYLASKNLIN QTTAKATLTQ MLNVIFARME NQALQEAKQM EKERHRQHHH LLQSPVSHHE 250 260 270 280 290 300 PESPQLRYLP PQTVDHISQE HEGDLDLHTN DVDKSLQDDT EPENGSDISS AENEQTEADQ 310 320 330 340 350 360 ATAAETLSKN EVLYDGENHD CEEKPQDIVQ NIVEEMVNIV VGDMGEGTTI NASADGNIGT 370 380 390 400 410 420 IEDGSDSENI QANGIPGTPI SVAYTPSLPD DRLSVSSNDT QESGNSSGPS PGAKFSHILQ 430 440 450 460 470 480 KDAFLVFRSL CKLSMKPLSD GPPDPKSHEL RSKILSLQLL LSILQNAGPI FRTNEMFINA 490 500 510 520 530 540 IKQYLCVALS KNGVSSVPEV FELSLSIFLT LLSNFKTHLK MQIEVFFKEI FLYILETSTS 550 560 570 580 590 600 SFDHKWMVIQ TLTRICADAQ SVVDIYVNYD CDLNAANIFE RLVNDLSKIA QGRGSQELGM 610 620 630 640 650 660 SNVQELSLRK KGLECLVSIL KCMVEWSKDQ YVNPNSQTTL GQEKPSEQEM SEIKHPETIN 670 680 690 700 710 720 RYGSLNSLES TSSSGIGSYS TQMSGTDNPE QFEVLKQQKE IIEQGIDLFN KKPKRGIQYL 730 740 750 760 770 780 QEQGMLGTTP EDIAQFLHQE ERLDSTQVGE FLGDNDKFNK EVMYAYVDQH DFSGKDFVSA 790 800 810 820 830 840 LRMFLEGFRL PGEAQKIDRL MEKFAARYLE CNQGQTLFAS ADTAYVLAYS IIMLTTDLHS 850 860 870 880 890 900 PQVKNKMTKE QYIKMNRGIN DSKDLPEEYL SAIYNEIAGK KISMKETKEL TIPTKSSKQN 910 920 930 940 950 960 VASEKQRRLL YNLEMEQMAK TAKALMEAVS HVQAPFTSAT HLEHVRPMFK LAWTPFLAAF 970 980 990 1000 1010 1020 SVGLQDCDDT EVASLCLEGI RCAIRIACIF SIQLERDAYV QALARFTLLT VSSGITEMKQ 1030 1040 1050 1060 1070 1080 KNIDTIKTLI TVAHTDGNYL GNSWHEILKC ISQLELAQLI GTGVKPRYIS GTVRGREGSL 1090 1100 1110 1120 1130 1140 TGTKDQAPDE FVGLGLVGGN VDWKQIASIQ ESIGETSSQS VVVAVDRIFT GSTRLDGNAI 1150 1160 1170 1180 1190 1200 VDFVRWLCAV SMDELLSTTH PRMFSLQKIV EISYYNMGRI RLQWSRIWEV IGDHFNKVGC 1210 1220 1230 1240 1250 1260 NPNEDVAIFA VDSLRQLSMK FLEKGELANF RFQKDFLRPF EHIMKRNRSP TIRDMVVRCI 1270 1280 1290 1300 1310 1320 AQMVNSQAAN IRSGWKNIFS VFHLAASDQD ESIVELAFQT TGHIVTLVFE KHFPATIDSF 1330 1340 1350 1360 1370 1380 QDAVKCLSEF ACNAAFPDTS MEAIRLIRHC AKYVSDRPQA FKEYTSDDMN VAPEDRVWVR 1390 1400 1410 1420 1430 1440 GWFPILFELS CIINRCKLDV RTRGLTVMFE IMKTYGHTYE KHWWQDLFRI VFRIFDNMKL 1450 1460 1470 1480 1490 1500 PEQQTEKAEW MTTTCNHALY AICDVFTQYL EVLSDVLLDD IFAQLYWCVQ QDNEQLARSG 1510 1520 1530 1540 1550 1560 TNCLENVVIL NGEKFTLEIW DKTCNCTLDI FKTTIPHALL TWRPNSGETA PPPPSPVSEK 1570 1580 1590 1600 1610 1620 PLDTISQKSV DIHDSIQPRS VDNRPQAPLV SASAVNEEVS KIKSTAKFPE QKLFAALLIK 1630 1640 1650 1660 1670 1680 CVVQLELIQT IDNIVFFPAT SKKEDAENLA AAQRDAVDFD VRVDTQDQGM YRFLTSQQLF 1690 1700 1710 1720 1730 1740 KLLDCLLESH RFAKAFNSNN EQRTALWKAG FKGKSKPNLL KQETSSLACG LRILFRMYMD 1750 1760 1770 1780 1790 1800 ESRVSAWEEV QQRLLNVCSE ALSYFLTLTS ESHREAWTNL LLLFLTKVLK ISDNRFKAHA 1810 1820 1830 1840 SFYYPLLCEI MQFDLIPELR AVLRRFFLRI GVVFQISQPP EQELGINKQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors." Togawa A., Morinaga N., Ogasawara M., Moss J., Vaughan M. J. Biol. Chem. 274:12308-12315(1999) [PubMed: 10212200] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A." Mansour S.J., Skaug J., Zhao X.-H., Giordano J., Scherer S.W., Melancon P. Proc. Natl. Acad. Sci. U.S.A. 96:7968-7973(1999) [PubMed: 10393931] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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 1341-1849. Tissue: Ovarian carcinoma.
[4]	The German cDNA consortium Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1637-1849. Tissue: Testis.
[5]	"Interaction of FK506-binding protein 13 with brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1): effects of FK506." Padilla P.I., Chang M.J., Pacheco-Rodriguez G., Adamik R., Moss J., Vaughan M. Proc. Natl. Acad. Sci. U.S.A. 100:2322-2327(2003) [PubMed: 12606707] [Abstract] Cited for: INTERACTION WITH FKBP2.
[6]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1569, MASS SPECTROMETRY. Tissue: Epithelium.
[7]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-316.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF084520 mRNA. Translation: AAD38427.1. AF111162 mRNA. Translation: AAD43651.1. AK001788 mRNA. Translation: BAA91912.1. AL117446 mRNA. Translation: CAB55931.1.
PIR	T17241.
RefSeq	NP_006412.2.
UniGene	Hs.656902
3D structure databases
HSSP	HSSP built from PDB template 1BC9 based on UniProtKB Q15438.
ModBase	Search...
PTM databases
PhosphoSite	Q9Y6D6.
Proteomic databases
PeptideAtlas	Q9Y6D6.
Genome annotation databases
Ensembl	ENSG00000066777. Homo sapiens. [Contig view]
GeneID	10565.
KEGG	hsa:10565.
Organism-specific databases
HGNC	HGNC:15772. ARFGEF1.
MIM	604141. gene.
PharmGKB	PA134908197.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q9Y6D6.
HOVERGEN	Q9Y6D6.
Gene expression databases
ArrayExpress	Q9Y6D6.
CleanEx	HS_ARFGEF1.
GermOnline	ENSG00000066777. Homo sapiens.
Family and domain databases
InterPro	IPR015403. DUF1981_SEC7_assoc. IPR000904. Sec7. [Graphical view]
Pfam	PF09324. DUF1981. 1 hit. PF01369. Sec7. 1 hit. [Graphical view]
SMART	SM00222. Sec7. 1 hit. [Graphical view]
PROSITE	PS50190. SEC7. 1 hit. [Graphical view]
ProDom	Q9Y6D6. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

BIG1_HUMAN

Accession

Primary (citable) accession number: Q9Y6D6
Secondary accession number(s): Q9NV46, Q9UFV2, Q9UNL0

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	October 17, 2006
Last modified:	July 22, 2008
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)