Q5TH69 (BIG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Brefeldin A-inhibited guanine nucleotide-exchange protein 3

Gene names

Name:	ARFGEF3
Synonyms:	BIG3, C6orf92, KIAA1244

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	2177 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein Potential.
Sequence similarities	Contains 1 SEC7 domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	negative regulation of phosphatase activity Inferred from direct assay. Source: UniProtKB regulation of ARF protein signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
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 – 2177	2177	Brefeldin A-inhibited guanine nucleotide-exchange protein 3		PRO_0000286671
Regions
	Transmembrane	1492 – 1512	21	Helical; Potential
	Domain	583 – 796	214	SEC7
Amino acid modifications
	Modified residue	1651	1	Phosphoserine Ref.6
	Modified residue	1991	1	Phosphoserine Ref.6
Natural variations
	Natural variant	413	1	E → D. Corresponds to variant rs9376338 [ dbSNP | Ensembl ].		VAR_051925
	Natural variant	689	1	S → A. Corresponds to variant rs7764091 [ dbSNP | Ensembl ].		VAR_032154
	Natural variant	1571	1	A → T. Corresponds to variant rs3736706 [ dbSNP | Ensembl ].		VAR_032155
	Natural variant	2031	1	K → R. Corresponds to variant rs35964895 [ dbSNP | Ensembl ].		VAR_032156
Experimental info
	Sequence conflict	1876	1	Missing in AAH14227. Ref.5
	Sequence conflict	1876	1	Missing in AAH33191. Ref.5
	Sequence conflict	1883	1	R → L in AAH14227. Ref.5
	Sequence conflict	1883	1	R → L in AAH33191. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q5TH69 [UniParc]. Last modified May 15, 2007. Version 3. Checksum: 6F48EDB5BFF37454	FASTA	2,177	240,652
	10 20 30 40 50 60 MEEILRKLQK EASGSKYKAI KESCTWALET LGGLDTIVKI PPHVLREKCL LPLQLALESK 70 80 90 100 110 120 NVKLAQHALA GMQKLLSEER FVSMETDSDE KQLLNQILNA VKVTPSLNED LQVEVMKVLL 130 140 150 160 170 180 CITYTPTFDL NGSAVLKIAE VCIETYISSC HQRSINTAVR ATLSQMLSDL TLQLRQRQEN 190 200 210 220 230 240 TIIENPDVPQ DFGNQGSTVE SLCDDVVSVL TVLCEKLQAA INDSQQLQLL YLECILSVLS 250 260 270 280 290 300 SSSSSMHLHR RFTDLIWKNL CPALIVILGN PIHDKTITSA HTSSTSTSLE SDSASPGVSD 310 320 330 340 350 360 HGRGSGCSCT APALSGPVAR TIYYIAAELV RLVGSVDSMK PVLQSLYHRV LLYPPPQHRV 370 380 390 400 410 420 EAIKIMKEIL GSPQRLCDLA GPSSTESESR KRSISKRKSH LDLLKLIMDG MTEACIKGGI 430 440 450 460 470 480 EACYAAVSCV CTLLGALDEL SQGKGLSEGQ VQLLLLRLEE LKDGAEWSRD SMEINEADFR 490 500 510 520 530 540 WQRRVLSSEH TPWESGNERS LDISISVTTD TGQTTLEGEL GQTTPEDHSG NHKNSLKSPA 550 560 570 580 590 600 IPEGKETLSK VLETEAVDQP DVVQRSHTVP YPDITNFLSV DCRTRSYGSR YSESNFSVDD 610 620 630 640 650 660 QDLSRTEFDS CDQYSMAAEK DSGRSDVSDI GSDNCSLADE EQTPRDCLGH RSLRTAALSL 670 680 690 700 710 720 KLLKNQEADQ HSARLFIQSL EGLLPRLLSL SNVEEVDTAL QNFASTFCSG MMHSPGFDGN 730 740 750 760 770 780 SSLSFQMLMN ADSLYTAAHC ALLLNLKLSH GDYYRKRPTL APGVMKDFMK QVQTSGVLMV 790 800 810 820 830 840 FSQAWIEELY HQVLDRNMLG EAGYWGSPED NSLPLITMLT DIDGLESSAI GGQLMASAAT 850 860 870 880 890 900 ESPFAQSRRI DDSTVAGVAF ARYILVGCWK NLIDTLSTPL TGRMAGSSKG LAFILGAEGI 910 920 930 940 950 960 KEQNQKERDA ICMSLDGLRK AARLSCALGV AANCASALAQ MAAASCVQEE KEEREAQEPS 970 980 990 1000 1010 1020 DAITQVKLKV EQKLEQIGKV QGVWLHTAHV LCMEAILSVG LEMGSHNPDC WPHVFRVCEY 1030 1040 1050 1060 1070 1080 VGTLEHNHFS DGASQPPLTI SQPQKATGSA GLLGDPECEG SPPEHSPEQG RSLSTAPVVQ 1090 1100 1110 1120 1130 1140 PLSIQDLVRE GSRGRASDFR GGSLMSGSSA AKVVLTLSTQ ADRLFEDATD KLNLMALGGF 1150 1160 1170 1180 1190 1200 LYQLKKASQS QLFHSVTDTV DYSLAMPGEV KSTQDRKSAL HLFRLGNAML RIVRSKARPL 1210 1220 1230 1240 1250 1260 LHVMRCWSLV APHLVEAACH KERHVSQKAV SFIHDILTEV LTDWNEPPHF HFNEALFRPF 1270 1280 1290 1300 1310 1320 ERIMQLELCD EDVQDQVVTS IGELVEVCST QIQSGWRPLF SALETVHGGN KSEMKEYLVG 1330 1340 1350 1360 1370 1380 DYSMGKGQAP VFDVFEAFLN TDNIQVFANA ATSYIMCLMK FVKGLGEVDC KEIGDCAPAP 1390 1400 1410 1420 1430 1440 GAPSTDLCLP ALDYLRRCSQ LLAKIYKMPL KPIFLSGRLA GLPRRLQEQS ASSEDGIESV 1450 1460 1470 1480 1490 1500 LSDFDDDTGL IEVWIILLEQ LTAAVSNCPR QHQPPTLDLL FELLRDVTKT PGPGFGIYAV 1510 1520 1530 1540 1550 1560 VHLLLPVMSV WLRRSHKDHS YWDMASANFK HAIGLSCELV VEHIQSFLHS DIRYESMINT 1570 1580 1590 1600 1610 1620 MLKDLFELLV ACVAKPTETI SRVGCSCIRY VLVTAGPVFT EEMWRLACCA LQDAFSATLK 1630 1640 1650 1660 1670 1680 PVKDLLGCFH SGTESFSGEG CQVRVAAPSS SPSAEAEYWR IRAMAQQVFM LDTQCSPKTP 1690 1700 1710 1720 1730 1740 NNFDHAQSCQ LIIELPPDEK PNGHTKKSVS FREIVVSLLS HQVLLQNLYD ILLEEFVKGP 1750 1760 1770 1780 1790 1800 SPGEEKTIQV PEAKLAGFLR YISMQNLAVI FDLLLDSYRT AREFDTSPGL KCLLKKVSGI 1810 1820 1830 1840 1850 1860 GGAANLYRQS AMSFNIYFHA LVCAVLTNQE TITAEQVKKV LFEDDERSTD SSQQCSSEDE 1870 1880 1890 1900 1910 1920 DIFEETAQVS PPRGKEKRQW RARMPLLSVQ PVSNADWVWL VKRLHKLCME LCNNYIQMHL 1930 1940 1950 1960 1970 1980 DLENCMEEPP IFKGDPFFIL PSFQSESSTP STGGFSGKET PSEDDRSQSR EHMGESLSLK 1990 2000 2010 2020 2030 2040 AGGGDLLLPP SPKVEKKDPS RKKEWWENAG NKIYTMAADK TISKLMTEYK KRKQQHNLSA 2050 2060 2070 2080 2090 2100 FPKEVKVEKK GEPLGPRGQD SPLLQRPQHL MDQGQMRHSF SAGPELLRQD KRPRSGSTGS 2110 2120 2130 2140 2150 2160 SLSVSVRDAE AQIQAWTNMV LTVLNQIQIL PDQTFTALQP AVFPCISQLT CHVTDIRVRQ 2170 AVREWLGRVG RVYDIIV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed: 10574462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 306-2177. Tissue: Brain.
[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: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[4]	"KIAA1244 as a novel distantly related member (BIG3) of the BIG1/Sec7p subfamily of ARF GEFs." Hong W. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 408-2177.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1588-2177. Tissue: Colon.
[6]	"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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1651 AND SER-1991, MASS SPECTROMETRY. Tissue: Cervix carcinoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL031433, AL031003, AL391240 Genomic DNA. Translation: CAI19661.3. AL391240, AL031003, AL031433 Genomic DNA. Translation: CAM28242.2. AL031003, AL031433, AL391240 Genomic DNA. Translation: CAM28244.2. AB033070 mRNA. Translation: BAA86558.2. AF413080 mRNA. Translation: AAL04174.1. BC014227 mRNA. Translation: AAH14227.2. BC033191 mRNA. Translation: AAH33191.1.
IPI	IPI00514897.
RefSeq	NP_065073.3. NM_020340.4.
UniGene	Hs.194408.
3D structure databases
ProteinModelPortal	Q5TH69.
ModBase	Search...
Protein-protein interaction databases
STRING	Q5TH69.
PTM databases
PhosphoSite	Q5TH69.
Polymorphism databases
DMDM	147742985.
Proteomic databases
PRIDE	Q5TH69.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000251691; ENSP00000251691; ENSG00000112379.
GeneID	57221.
KEGG	hsa:57221.
UCSC	uc003qhu.2. human.
Organism-specific databases
CTD	57221.
GeneCards	GC06P138569.
H-InvDB	HIX0006251.
HGNC	HGNC:21213. KIAA1244.
HPA	HPA036350. HPA036351.
neXtProt	NX_Q5TH69.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00530000064150.
HOGENOM	HBG506815.
HOVERGEN	HBG107499.
InParanoid	Q5TH69.
OMA	QLLYLEC.
OrthoDB	EOG4CRKZ5.
PhylomeDB	Q5TH69.
Gene expression databases
ArrayExpress	Q5TH69.
Bgee	Q5TH69.
CleanEx	HS_KIAA1244.
Genevestigator	Q5TH69.
Family and domain databases
InterPro	IPR015403. DUF1981_SEC7_assoc. IPR000904. Sec7. [Graphical view]
Pfam	PF09324. DUF1981. 1 hit. [Graphical view]
SMART	SM00222. Sec7. 1 hit. [Graphical view]
PROSITE	PS50190. SEC7. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	63345.

Entry information

Entry name

BIG3_HUMAN

Accession

Primary (citable) accession number: Q5TH69
Secondary accession number(s): Q76MU8 , Q8N4Y4, Q96CH9, Q96P46, Q9ULH6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	May 15, 2007
Last modified:	January 25, 2012
This is version 54 of the entry and version 3 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.