Q5TH69 (BIG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 54.
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 3 | ||||
| Gene names |
| ||||
| 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 transductionInferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome integral to membraneInferred 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
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References
| « Hide '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. 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 Q9ULH6 | ||||||||
| 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 6 Human chromosome 6: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with