Q92538 (GBF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
Short name=BFA-resistant GEF 1

Gene names

Name:	GBF1
Synonyms:	KIAA0248

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1859 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Promotes guanine-nucleotide exchange on ARF5. Promotes the activation of ARF5 through replacement of GDP with GTP By similarity.
Enzyme regulation	Inhibited by brefeldin A By similarity.
Tissue specificity	Ubiquitous.
Sequence similarities	Contains 1 SEC7 domain.
Sequence caution	The sequence BAA13379.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	COPI coating of Golgi vesicle Traceable author statement. Source: Reactome post-Golgi vesicle-mediated transport Traceable author statement. Source: Reactome regulation of ARF protein signal transduction Inferred from electronic annotation. Source: InterPro retrograde vesicle-mediated transport, Golgi to ER Traceable author statement. Source: Reactome
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome Golgi stack Inferred from electronic annotation. Source: Compara cis-Golgi network Inferred from electronic annotation. Source: Compara endoplasmic reticulum lumen Inferred from electronic annotation. Source: Compara mitochondrion Inferred from electronic annotation. Source: Compara peroxisome Inferred from electronic annotation. Source: Compara trans-Golgi network Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	ARF guanyl-nucleotide exchange factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1859	1859	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1		PRO_0000120210
Regions
	Domain	692 – 882	191	SEC7
	Compositional bias	1751 – 1854	104	Pro-rich
Amino acid modifications
	Modified residue	507	1	Phosphothreonine Ref.7
	Modified residue	662	1	Phosphoserine Ref.9
	Modified residue	1298	1	Phosphoserine Ref.9 Ref.11 Ref.14
	Modified residue	1316	1	Phosphotyrosine Ref.11
	Modified residue	1320	1	Phosphoserine Ref.12
	Modified residue	1335	1	Phosphoserine Ref.11
	Modified residue	1475	1	Phosphoserine Ref.11
Natural variations
	Natural variant	1693	1	G → S. Corresponds to variant rs11191274 [ dbSNP | Ensembl ].		VAR_051926
Experimental info
	Sequence conflict	24	1	A → S in BAA13379. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q92538 [UniParc]. Last modified August 1, 1999. Version 2. Checksum: 5015D2BD70009CFA	FASTA	1,859	206,446
	10 20 30 40 50 60 MVDKNIYIIQ GEINIVVGAI KRNARWSTHT PLDEERDPLL HSFGHLKEVL NSITELSEIE 70 80 90 100 110 120 PNVFLRPFLE VIRSEDTTGP ITGLALTSVN KFLSYALIDP THEGTAEGME NMADAVTHAR 130 140 150 160 170 180 FVGTDPASDE VVLMKILQVL RTLLLTPVGA HLTNESVCEI MQSCFRICFE MRLSELLRKS 190 200 210 220 230 240 AEHTLVDMVQ LLFTRLPQFK EEPKNYVGTN MKKLKMRAGG MSDSSKWKKQ KRSPRPPRHM 250 260 270 280 290 300 TKVTPGSELP TPNGTTLSSN LTGGMPFIDV PTPISSASSE AASAVVSPST DSGLEFSSQT 310 320 330 340 350 360 TSKEDLTDLE QPGSPGYSTA TEPGSSELGV PEQPDLQEGT HVEKSQSASV ESIPEVLEEC 370 380 390 400 410 420 TSPADHSDSA SVHDMDYVNP RGVRFTQSSQ KEGTALVPYG LPCIRELFRF LISLTNPHDR 430 440 450 460 470 480 HNSEVMIHMG LHLLTVALES APVAQCQTLL GLIKDEMCRH LFQLLSIERL NLYAASLRVC 490 500 510 520 530 540 FLLFESMREH LKFQMEMYIK KLMEIITVEN PKMPYEMKEM ALEAIVQLWR IPSFVTELYI 550 560 570 580 590 600 NYDCDYYCSN LFEELTKLLS KNAFPVSGQL YTTHLLSLDA LLTVIDSTEA HCQAKVLNSL 610 620 630 640 650 660 TQQEKKETAR PSCEIVDGTR EASNTERTAS DGKAVGMASD IPGLHLPGGG RLPPEHGKSG 670 680 690 700 710 720 CSDLEEAVDS GADKKFARKP PRFSCLLPDP RELIEIKNKK KLLITGTEQF NQKPKKGIQF 730 740 750 760 770 780 LQEKGLLTIP MDNTEVAQWL RENPRLDKKM IGEFVSDRKN IDLLESFVST FSFQGLRLDE 790 800 810 820 830 840 ALRLYLEAFR LPGEAPVIQR LLEAFTERWM NCNGSPFANS DACFSLAYAV IMLNTDQHNH 850 860 870 880 890 900 NVRKQNAPMT LEEFRKNLKG VNGGKDFEQD ILEDMYHAIK NEEIVMPEEQ TGLVRENYVW 910 920 930 940 950 960 NVLLHRGATP EGIFLRVPTA SYDLDLFTMT WGPTIAALSY VFDKSLEETI IQKAISGFRK 970 980 990 1000 1010 1020 CAMISAHYGL SDVFDNLIIS LCKFTALSSE SIENLPSVFG SNPKAHIAAK TVFHLAHRHG 1030 1040 1050 1060 1070 1080 DILREGWKNI MEAMLQLFRA QLLPKAMIEV EDFVDPNGKI SLQREETPSN RGESTVLSFV 1090 1100 1110 1120 1130 1140 SWLTLSGPEQ SSVRGPSTEN QEAKRVALEC IKQCDPEKMI TESKFLQLES LQELMKALVS 1150 1160 1170 1180 1190 1200 VTPDEETYDE EDAAFCLEML LRIVLENRDR VGCVWQTVRD HLYHLCVQAQ DFCFLVERAV 1210 1220 1230 1240 1250 1260 VGLLRLAIRL LRREEISAQV LLSLRILLLM KPSVLSRVSH QVAYGLHELL KTNAANIHSG 1270 1280 1290 1300 1310 1320 DDWATLFTLL ECIGSGVKPP AALQATARAD APDAGAQSDS ELPSYHQNDV SLDRGYTSDS 1330 1340 1350 1360 1370 1380 EVYTDHGRPG KIHRSATDAD VVNSGWLVVG KDDVDNSKPG PSRPGPSPLI NQYSLTVGLD 1390 1400 1410 1420 1430 1440 LGPHDTKSLL KCVESLSFIV RDAAHITPDN FELCVKTLRI FVEASLNGGC KSQEKRGKSH 1450 1460 1470 1480 1490 1500 KYDSKGNRFK KKSKEGSMLR RPRTSSQHAS RGGQSDDDED EGVPASYHTV SLQVSQDLLD 1510 1520 1530 1540 1550 1560 LMHTLHTRAA SIYSSWAEEQ RHLETGGQKI EADSRTLWAH CWCPLLQGIA CLCCDARRQV 1570 1580 1590 1600 1610 1620 RMQALTYLQR ALLVHDLQKL DALEWESCFN KVLFPLLTKL LENISPADVG GMEETRMRAS 1630 1640 1650 1660 1670 1680 TLLSKVFLQH LSPLLSLSTF AALWLTILDF MDKYMHAGSS DLLSEAIPES LKNMLLVMDT 1690 1700 1710 1720 1730 1740 AEIFHSADAR GGGPSALWEI TWERIDCFLP HLRDELFKQT VIQDPMPMEP QGQKPLASAH 1750 1760 1770 1780 1790 1800 LTSAAGDTRT PGHPPPPEIP SELGACDFEK PESPRAASSS SPGSPVASSP SRLSPTPDGP 1810 1820 1830 1840 1850 PPLAQPPLIL QPLASPLQVG VPPMTLPIIL NPALIEATSP VPLLATPRPT DPIPTSEVN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24." Mansour S.J., Herbrick J.-A., Scherer S.W., Melancon P. Genomics 54:323-327(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] OF 1312-1859. Tissue: Kidney and Muscle.
[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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[7]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-507, MASS SPECTROMETRY. Tissue: Platelet.
[8]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[9]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-662 AND SER-1298, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1298; TYR-1316; SER-1335 AND SER-1475, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[12]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1320, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1298, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF068755 mRNA. Translation: AAD15903.1. D87435 mRNA. Translation: BAA13379.2. Different initiation. AL356420, AL121928, AL160011 Genomic DNA. Translation: CAH72761.1. AL121928, AL160011, AL356420 Genomic DNA. Translation: CAI12515.1. AL160011, AL121928, AL356420 Genomic DNA. Translation: CAH71625.1. BC007941 mRNA. Translation: AAH07941.2. BC014171 mRNA. Translation: AAH14171.2.
IPI	IPI00021954.
RefSeq	NP_001186307.1. NM_001199378.1. NP_001186308.1. NM_001199379.1. NP_004184.1. NM_004193.2.
UniGene	Hs.290243.
3D structure databases
ProteinModelPortal	Q92538.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92538. 3 interactions.
MINT	MINT-5006508.
STRING	9606.ENSP00000359000.
PTM databases
PhosphoSite	Q92538.
Polymorphism databases
DMDM	13124260.
Proteomic databases
PaxDb	Q92538.
PeptideAtlas	Q92538.
PRIDE	Q92538.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369983; ENSP00000359000; ENSG00000107862.
GeneID	8729.
KEGG	hsa:8729.
UCSC	uc001kux.2. human.
Organism-specific databases
CTD	8729.
GeneCards	GC10P103995.
HGNC	HGNC:4181. GBF1.
HPA	HPA037759. HPA037760.
MIM	603698. gene.
neXtProt	NX_Q92538.
PharmGKB	PA28595.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5307.
HOGENOM	HOG000230678.
HOVERGEN	HBG005810.
InParanoid	Q92538.
OMA	IAWLCCD.
OrthoDB	EOG447FSC.
PhylomeDB	Q92538.
Enzyme and pathway databases
Pathway_Interaction_DB	arf_3pathway. Arf1 pathway.
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
ArrayExpress	Q92538.
Bgee	Q92538.
CleanEx	HS_GBF1.
Genevestigator	Q92538.
GermOnline	ENSG00000107862. Homo sapiens.
Family and domain databases
Gene3D	1.10.1000.11. 1 hit.
InterPro	IPR000904. Sec7. IPR023394. SEC7_alpha_orthog. [Graphical view]
Pfam	PF01369. Sec7. 1 hit. [Graphical view]
SMART	SM00222. Sec7. 1 hit. [Graphical view]
SUPFAM	SSF48425. Sec7. 1 hit.
PROSITE	PS50190. SEC7. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GBF1. human.
GenomeRNAi	8729.
NextBio	32749.
PMAP-CutDB	Q92538.
SOURCE	Search...

Entry information

Entry name

GBF1_HUMAN

Accession

Primary (citable) accession number: Q92538
Secondary accession number(s): Q5VXX3 , Q96CK6, Q96HZ3, Q9H473

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	August 1, 1999
Last modified:	May 1, 2013
This is version 121 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.