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Protein

Brefeldin A-inhibited guanine nucleotide-exchange protein 3

Gene

ARFGEF3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells (PubMed:19496786).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Brefeldin A-inhibited guanine nucleotide-exchange protein 3Curated
Alternative name(s):
ARFGEF family member 3Imported
Gene namesi
Name:ARFGEF3Imported
Synonyms:BIG3, C6orf92, KIAA1244
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21213. ARFGEF3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1492 – 1512HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57221.
OpenTargetsiENSG00000112379.
PharmGKBiPA134888863.

Polymorphism and mutation databases

BioMutaiARFGEF3.
DMDMi147742985.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002866711 – 2177Brefeldin A-inhibited guanine nucleotide-exchange protein 3Add BLAST2177

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei471PhosphoserineBy similarity1
Modified residuei632PhosphoserineBy similarity1
Modified residuei636PhosphoserineBy similarity1
Modified residuei1049PhosphoserineBy similarity1
Modified residuei1991PhosphoserineCombined sources1
Modified residuei2079PhosphoserineBy similarity1
Modified residuei2081PhosphoserineBy similarity1
Modified residuei2095PhosphoserineBy similarity1
Modified residuei2101PhosphoserineBy similarity1
Modified residuei2103PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5TH69.
MaxQBiQ5TH69.
PaxDbiQ5TH69.
PeptideAtlasiQ5TH69.
PRIDEiQ5TH69.

PTM databases

iPTMnetiQ5TH69.
PhosphoSitePlusiQ5TH69.

Expressioni

Tissue specificityi

Expressed in breast cancer cell lines. Not expressed in normal tissues such as duct, mammary gland, lung, heart, liver, kidnay, bone marrow.1 Publication

Gene expression databases

BgeeiENSG00000112379.
CleanExiHS_KIAA1244.
GenevisibleiQ5TH69. HS.

Organism-specific databases

HPAiHPA036350.

Interactioni

Subunit structurei

Interacts with PHB2.1 Publication

Protein-protein interaction databases

BioGridi121457. 19 interactors.
IntActiQ5TH69. 4 interactors.
STRINGi9606.ENSP00000251691.

Structurei

3D structure databases

ProteinModelPortaliQ5TH69.
SMRiQ5TH69.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini583 – 796SEC7Add BLAST214

Sequence similaritiesi

Contains 1 SEC7 domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1846. Eukaryota.
ENOG410XNND. LUCA.
GeneTreeiENSGT00530000064150.
HOGENOMiHOG000074183.
HOVERGENiHBG107499.
InParanoidiQ5TH69.
KOiK17572.
OMAiGDHSYWD.
OrthoDBiEOG091G00JC.
PhylomeDBiQ5TH69.
TreeFamiTF300714.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR032629. DCB_dom.
IPR015403. Sec7_C.
IPR000904. Sec7_dom.
[Graphical view]
PfamiPF16213. DCB. 1 hit.
PF09324. DUF1981. 1 hit.
[Graphical view]
SMARTiSM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 6 hits.

Sequencei

Sequence statusi: Complete.

Q5TH69-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEEILRKLQK EASGSKYKAI KESCTWALET LGGLDTIVKI PPHVLREKCL
60 70 80 90 100
LPLQLALESK NVKLAQHALA GMQKLLSEER FVSMETDSDE KQLLNQILNA
110 120 130 140 150
VKVTPSLNED LQVEVMKVLL CITYTPTFDL NGSAVLKIAE VCIETYISSC
160 170 180 190 200
HQRSINTAVR ATLSQMLSDL TLQLRQRQEN TIIENPDVPQ DFGNQGSTVE
210 220 230 240 250
SLCDDVVSVL TVLCEKLQAA INDSQQLQLL YLECILSVLS SSSSSMHLHR
260 270 280 290 300
RFTDLIWKNL CPALIVILGN PIHDKTITSA HTSSTSTSLE SDSASPGVSD
310 320 330 340 350
HGRGSGCSCT APALSGPVAR TIYYIAAELV RLVGSVDSMK PVLQSLYHRV
360 370 380 390 400
LLYPPPQHRV EAIKIMKEIL GSPQRLCDLA GPSSTESESR KRSISKRKSH
410 420 430 440 450
LDLLKLIMDG MTEACIKGGI EACYAAVSCV CTLLGALDEL SQGKGLSEGQ
460 470 480 490 500
VQLLLLRLEE LKDGAEWSRD SMEINEADFR WQRRVLSSEH TPWESGNERS
510 520 530 540 550
LDISISVTTD TGQTTLEGEL GQTTPEDHSG NHKNSLKSPA IPEGKETLSK
560 570 580 590 600
VLETEAVDQP DVVQRSHTVP YPDITNFLSV DCRTRSYGSR YSESNFSVDD
610 620 630 640 650
QDLSRTEFDS CDQYSMAAEK DSGRSDVSDI GSDNCSLADE EQTPRDCLGH
660 670 680 690 700
RSLRTAALSL KLLKNQEADQ HSARLFIQSL EGLLPRLLSL SNVEEVDTAL
710 720 730 740 750
QNFASTFCSG MMHSPGFDGN SSLSFQMLMN ADSLYTAAHC ALLLNLKLSH
760 770 780 790 800
GDYYRKRPTL APGVMKDFMK QVQTSGVLMV FSQAWIEELY HQVLDRNMLG
810 820 830 840 850
EAGYWGSPED NSLPLITMLT DIDGLESSAI GGQLMASAAT ESPFAQSRRI
860 870 880 890 900
DDSTVAGVAF ARYILVGCWK NLIDTLSTPL TGRMAGSSKG LAFILGAEGI
910 920 930 940 950
KEQNQKERDA ICMSLDGLRK AARLSCALGV AANCASALAQ MAAASCVQEE
960 970 980 990 1000
KEEREAQEPS DAITQVKLKV EQKLEQIGKV QGVWLHTAHV LCMEAILSVG
1010 1020 1030 1040 1050
LEMGSHNPDC WPHVFRVCEY VGTLEHNHFS DGASQPPLTI SQPQKATGSA
1060 1070 1080 1090 1100
GLLGDPECEG SPPEHSPEQG RSLSTAPVVQ PLSIQDLVRE GSRGRASDFR
1110 1120 1130 1140 1150
GGSLMSGSSA AKVVLTLSTQ ADRLFEDATD KLNLMALGGF LYQLKKASQS
1160 1170 1180 1190 1200
QLFHSVTDTV DYSLAMPGEV KSTQDRKSAL HLFRLGNAML RIVRSKARPL
1210 1220 1230 1240 1250
LHVMRCWSLV APHLVEAACH KERHVSQKAV SFIHDILTEV LTDWNEPPHF
1260 1270 1280 1290 1300
HFNEALFRPF ERIMQLELCD EDVQDQVVTS IGELVEVCST QIQSGWRPLF
1310 1320 1330 1340 1350
SALETVHGGN KSEMKEYLVG DYSMGKGQAP VFDVFEAFLN TDNIQVFANA
1360 1370 1380 1390 1400
ATSYIMCLMK FVKGLGEVDC KEIGDCAPAP GAPSTDLCLP ALDYLRRCSQ
1410 1420 1430 1440 1450
LLAKIYKMPL KPIFLSGRLA GLPRRLQEQS ASSEDGIESV LSDFDDDTGL
1460 1470 1480 1490 1500
IEVWIILLEQ LTAAVSNCPR QHQPPTLDLL FELLRDVTKT PGPGFGIYAV
1510 1520 1530 1540 1550
VHLLLPVMSV WLRRSHKDHS YWDMASANFK HAIGLSCELV VEHIQSFLHS
1560 1570 1580 1590 1600
DIRYESMINT MLKDLFELLV ACVAKPTETI SRVGCSCIRY VLVTAGPVFT
1610 1620 1630 1640 1650
EEMWRLACCA LQDAFSATLK PVKDLLGCFH SGTESFSGEG CQVRVAAPSS
1660 1670 1680 1690 1700
SPSAEAEYWR IRAMAQQVFM LDTQCSPKTP NNFDHAQSCQ LIIELPPDEK
1710 1720 1730 1740 1750
PNGHTKKSVS FREIVVSLLS HQVLLQNLYD ILLEEFVKGP SPGEEKTIQV
1760 1770 1780 1790 1800
PEAKLAGFLR YISMQNLAVI FDLLLDSYRT AREFDTSPGL KCLLKKVSGI
1810 1820 1830 1840 1850
GGAANLYRQS AMSFNIYFHA LVCAVLTNQE TITAEQVKKV LFEDDERSTD
1860 1870 1880 1890 1900
SSQQCSSEDE DIFEETAQVS PPRGKEKRQW RARMPLLSVQ PVSNADWVWL
1910 1920 1930 1940 1950
VKRLHKLCME LCNNYIQMHL DLENCMEEPP IFKGDPFFIL PSFQSESSTP
1960 1970 1980 1990 2000
STGGFSGKET PSEDDRSQSR EHMGESLSLK AGGGDLLLPP SPKVEKKDPS
2010 2020 2030 2040 2050
RKKEWWENAG NKIYTMAADK TISKLMTEYK KRKQQHNLSA FPKEVKVEKK
2060 2070 2080 2090 2100
GEPLGPRGQD SPLLQRPQHL MDQGQMRHSF SAGPELLRQD KRPRSGSTGS
2110 2120 2130 2140 2150
SLSVSVRDAE AQIQAWTNMV LTVLNQIQIL PDQTFTALQP AVFPCISQLT
2160 2170
CHVTDIRVRQ AVREWLGRVG RVYDIIV
Length:2,177
Mass (Da):240,652
Last modified:May 15, 2007 - v3
Checksum:i6F48EDB5BFF37454
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1876Missing in AAH14227 (PubMed:15489334).Curated1
Sequence conflicti1876Missing in AAH33191 (PubMed:15489334).Curated1
Sequence conflicti1883R → L in AAH14227 (PubMed:15489334).Curated1
Sequence conflicti1883R → L in AAH33191 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051925413E → D.Corresponds to variant rs9376338dbSNPEnsembl.1
Natural variantiVAR_032154689S → A.Corresponds to variant rs7764091dbSNPEnsembl.1
Natural variantiVAR_0321551571A → T.Corresponds to variant rs3736706dbSNPEnsembl.1
Natural variantiVAR_0321562031K → R.Corresponds to variant rs35964895dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB252196 mRNA. Translation: BAH83562.1.
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.
CCDSiCCDS5189.2.
RefSeqiNP_065073.3. NM_020340.4.
UniGeneiHs.194408.

Genome annotation databases

EnsembliENST00000251691; ENSP00000251691; ENSG00000112379.
GeneIDi57221.
KEGGihsa:57221.
UCSCiuc003qhu.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB252196 mRNA. Translation: BAH83562.1.
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.
CCDSiCCDS5189.2.
RefSeqiNP_065073.3. NM_020340.4.
UniGeneiHs.194408.

3D structure databases

ProteinModelPortaliQ5TH69.
SMRiQ5TH69.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121457. 19 interactors.
IntActiQ5TH69. 4 interactors.
STRINGi9606.ENSP00000251691.

PTM databases

iPTMnetiQ5TH69.
PhosphoSitePlusiQ5TH69.

Polymorphism and mutation databases

BioMutaiARFGEF3.
DMDMi147742985.

Proteomic databases

EPDiQ5TH69.
MaxQBiQ5TH69.
PaxDbiQ5TH69.
PeptideAtlasiQ5TH69.
PRIDEiQ5TH69.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251691; ENSP00000251691; ENSG00000112379.
GeneIDi57221.
KEGGihsa:57221.
UCSCiuc003qhu.4. human.

Organism-specific databases

CTDi57221.
DisGeNETi57221.
GeneCardsiARFGEF3.
H-InvDBHIX0006251.
HGNCiHGNC:21213. ARFGEF3.
HPAiHPA036350.
neXtProtiNX_Q5TH69.
OpenTargetsiENSG00000112379.
PharmGKBiPA134888863.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1846. Eukaryota.
ENOG410XNND. LUCA.
GeneTreeiENSGT00530000064150.
HOGENOMiHOG000074183.
HOVERGENiHBG107499.
InParanoidiQ5TH69.
KOiK17572.
OMAiGDHSYWD.
OrthoDBiEOG091G00JC.
PhylomeDBiQ5TH69.
TreeFamiTF300714.

Miscellaneous databases

ChiTaRSiKIAA1244. human.
GenomeRNAii57221.
PROiQ5TH69.

Gene expression databases

BgeeiENSG00000112379.
CleanExiHS_KIAA1244.
GenevisibleiQ5TH69. HS.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
IPR032629. DCB_dom.
IPR015403. Sec7_C.
IPR000904. Sec7_dom.
[Graphical view]
PfamiPF16213. DCB. 1 hit.
PF09324. DUF1981. 1 hit.
[Graphical view]
SMARTiSM00222. Sec7. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 6 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiBIG3_HUMAN
AccessioniPrimary (citable) accession number: Q5TH69
Secondary accession number(s): C5NM88
, Q76MU8, Q8N4Y4, Q96CH9, Q96P46, Q9ULH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: November 2, 2016
This is version 93 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.