Q9Y6D6 (BIG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 102.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames 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 guanine nucleotide exchange factor p200 ARF-GEP1 | ||||
| Gene names |
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| 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. |
| 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 | |
| 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 | Acetylation Phosphoprotein |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | exocytosis Traceable author statement. Source: ProtInc regulation of ARF protein signal transductionInferred from electronic annotation. Source: InterPro |
| Cellular component | Golgi apparatus Inferred from direct assay. Source: HPA nucleusInferred from direct assay. Source: HPA |
| Molecular function | ARF guanyl-nucleotide exchange factor activity Inferred from Biological aspect of Ancestor. Source: RefGenome myosin bindingInferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1849 | 1849 | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 | PRO_0000120207 | |||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||
| Domain | 709 – 840 | 132 | SEC7 | ||||||||||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||||||||||
| Modified residue | 52 | 1 | Phosphoserine Ref.7 | ||||||||||||||||||||||||||||||
| Modified residue | 397 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||||||||||||||||||||||||||
| Modified residue | 1569 | 1 | Phosphoserine Ref.6 Ref.7 Ref.8 | ||||||||||||||||||||||||||||||
| Modified residue | 1708 | 1 | N6-acetyllysine Ref.11 | ||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||
| Natural variant | 273 | 1 | D → Y. Corresponds to variant rs4321984 [ dbSNP | Ensembl ]. | VAR_028749 | |||||||||||||||||||||||||||||
| Natural variant | 316 | 1 | G → E in a colorectal cancer sample; somatic mutation. Ref.13 | VAR_036155 | |||||||||||||||||||||||||||||
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 | ||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||
| Helix | 698 – 703 | 6 | |||||||||||||||||||||||||||||||
| Helix | 707 – 711 | 5 | |||||||||||||||||||||||||||||||
| Helix | 718 – 722 | 5 | |||||||||||||||||||||||||||||||
| Helix | 730 – 739 | 10 | |||||||||||||||||||||||||||||||
| Turn | 745 – 747 | 3 | |||||||||||||||||||||||||||||||
| Helix | 757 – 768 | 12 | |||||||||||||||||||||||||||||||
| Helix | 777 – 785 | 9 | |||||||||||||||||||||||||||||||
| Helix | 794 – 810 | 17 | |||||||||||||||||||||||||||||||
| Helix | 821 – 838 | 18 | |||||||||||||||||||||||||||||||
| Helix | 849 – 855 | 7 | |||||||||||||||||||||||||||||||
| Beta strand | 861 – 864 | 4 | |||||||||||||||||||||||||||||||
| Helix | 867 – 877 | 11 | |||||||||||||||||||||||||||||||
Sequences
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References
| « Hide '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. 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 full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] 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: Cervix carcinoma. |
| [7] | "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-52; SER-397 AND SER-1569, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1569, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-397, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [10] | "A role of histone H3 lysine 4 methyltransferase components in endosomal trafficking." Xu Z., Gong Q., Xia B., Groves B., Zimmermann M., Mugler C., Mu D., Matsumoto B., Seaman M., Ma D. J. Cell Biol. 186:343-353(2009) [PubMed: 19651892] [Abstract] Cited for: INTERACTION WITH DPY30. |
| [11] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1708, MASS SPECTROMETRY. |
| [12] | "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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [13] | "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. 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 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF084520 mRNA. Translation: AAD38427.1. AF111162 mRNA. Translation: AAD43651.1. AK001788 mRNA. Translation: BAA91912.1. AL117446 mRNA. Translation: CAB55931.1. | ||||||||||||
| IPI | IPI00002188. | ||||||||||||
| PIR | T17241. | ||||||||||||
| RefSeq | NP_006412.2. NM_006421.4. | ||||||||||||
| UniGene | Hs.656902. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9Y6D6. | ||||||||||||
| SMR | Q9Y6D6. Positions 695-885. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| DIP | DIP-29748N. | ||||||||||||
| IntAct | Q9Y6D6. 3 interactions. | ||||||||||||
| STRING | Q9Y6D6. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q9Y6D6. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 116241267. | ||||||||||||
Proteomic databases | |||||||||||||
| PeptideAtlas | Q9Y6D6. | ||||||||||||
| PRIDE | Q9Y6D6. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000262215; ENSP00000262215; ENSG00000066777. | ||||||||||||
| GeneID | 10565. | ||||||||||||
| KEGG | hsa:10565. | ||||||||||||
| UCSC | uc003xxo.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 10565. | ||||||||||||
| GeneCards | GC08M068109. | ||||||||||||
| H-InvDB | HIX0007564. | ||||||||||||
| HGNC | HGNC:15772. ARFGEF1. | ||||||||||||
| HPA | HPA023399. HPA023822. | ||||||||||||
| MIM | 604141. gene. | ||||||||||||
| neXtProt | NX_Q9Y6D6. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| GeneTree | ENSGT00560000076562. | ||||||||||||
| HOGENOM | HBG355338. | ||||||||||||
| HOVERGEN | HBG004846. | ||||||||||||
| InParanoid | Q9Y6D6. | ||||||||||||
| OMA | STTHPRM. | ||||||||||||
| OrthoDB | EOG4V9TPR. | ||||||||||||
| PhylomeDB | Q9Y6D6. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q9Y6D6. | ||||||||||||
| Bgee | Q9Y6D6. | ||||||||||||
| CleanEx | HS_ARFGEF1. | ||||||||||||
| Genevestigator | Q9Y6D6. | ||||||||||||
| GermOnline | ENSG00000066777. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR015403. DUF1981_SEC7_assoc. IPR000904. Sec7. IPR023394. SEC7_alpha_orthog. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.25.10.10. ARM-like. 2 hits. G3DSA:1.10.1000.11. G3DSA:1.10.1000.11. 1 hit. | ||||||||||||
| Pfam | PF09324. DUF1981. 1 hit. PF01369. Sec7. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00222. Sec7. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. SSF48425. Sec7. 1 hit. | ||||||||||||
| PROSITE | PS50190. SEC7. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| NextBio | 40097. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | BIG1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y6D6 Secondary accession number(s): Q9NV46, Q9UFV2, Q9UNL0 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with