Reviewed,
UniProtKB/Swiss-Prot Q6DN90 (IQEC1_HUMAN)
Last modified
June 16, 2009.
Version 46.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: IQ motif and SEC7 domain-containing protein 1 Alternative name(s): ADP-ribosylation factors guanine nucleotide-exchange protein 100 ADP-ribosylation factors guanine nucleotide-exchange protein 2 Brefeldin-resistant Arf-GEF 2 protein | ||||
| 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 | 963 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | In addition to accelerate GTP gamma S binding by ARFs of all three classes, it appears to function preferentially as a guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin. Ref.1 Ref.4 |
| Subunit structure | Interacts with ARF6. Ref.4 |
| Subcellular location | Cytoplasm. Nucleus. Note: At steady state, may be preferentially cytosolic. Ref.4 |
| Tissue specificity | Expressed in brain, ovary, heart, lung, liver, kidney and leukocytes. Moderate expression was also detected in lung, skeletal muscle, placenta, small intestine, pancreas, spleen and testis. Ref.4 Ref.2 |
| Sequence similarities | Belongs to the BRAG family. Contains 1 IQ domain. Contains 1 PH domain. Contains 1 SEC7 domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| Molecular function | Guanine-nucleotide releasing factor |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | regulation of ARF protein signal transduction Inferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | ARF guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6DN90-1) Also known as: BRAG2b; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q6DN90-2) Also known as: BRAG2a; The sequence of this isoform differs from the canonical sequence as follows: 1-122: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 963 | 963 | IQ motif and SEC7 domain-containing protein 1 | PRO_0000245606 | |||||
Regions | |||||||||
| Domain | 134 – 163 | 30 | IQ | ||||||
| Domain | 517 – 710 | 194 | SEC7 | ||||||
| Domain | 774 – 866 | 93 | PH | ||||||
| Coiled coil | 848 – 879 | 32 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 107 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 180 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 362 | 1 | Phosphothreonine Ref.5 | ||||||
| Modified residue | 512 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 515 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 122 | 122 | Missing in isoform 2. | VSP_019758 | |||||
| Natural variant | 640 | 1 | P → S: dbSNP rs35319679. | VAR_051927 | |||||
| Natural variant | 882 | 1 | V → I: dbSNP rs17541405. | VAR_027004 | |||||
Experimental info | |||||||||
| Sequence conflict | 934 – 936 | 3 | KRG → VHH Ref.3 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "The Arf6 GEF GEP100/BRAG2 regulates cell adhesion by controlling endocytosis of beta1 integrins." Dunphy J.L., Moravec R., Ly K., Lasell T.K., Melancon P., Casanova J.E. Curr. Biol. 16:315-320(2006) [PubMed: 16461286] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:277-286(1998) [PubMed: 9872452] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Brain. |
| [3] | "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 1-936 (ISOFORM 2). Tissue: Placenta. |
| [4] | "ARF-GEP(100), a guanine nucleotide-exchange protein for ADP-ribosylation factor 6." Someya A., Sata M., Takeda K., Pacheco-Rodriguez G., Ferrans V.J., Moss J., Vaughan M. Proc. Natl. Acad. Sci. U.S.A. 98:2413-2418(2001) [PubMed: 11226253] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH ARF6. |
| [5] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-362, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "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-180 AND SER-512, MASS SPECTROMETRY. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY653734 mRNA. Translation: AAT72063.1. AB018306 mRNA. Translation: BAA34483.2. BC010267 mRNA. Translation: AAH10267.1. | |
| IPI | IPI00457114. IPI00760711. |
| RefSeq | NP_055684.3. |
| UniGene | Hs.475506 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1R8Q based on UniProtKB Q99418. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q6DN90. |
Proteomic databases | |
| PRIDE | Q6DN90. |
Genome annotation databases | |
| Ensembl | ENSG00000144711. Homo sapiens. [Contig view] |
| GeneID | 9922. |
Organism-specific databases | |
| GeneCards | GC03M012916. |
| HGNC | HGNC:29112. IQSEC1. |
| MIM | 610166. gene. |
| PharmGKB | PA128394566. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q6DN90. |
| HOVERGEN | Q6DN90. |
| OMA | Q6DN90. LDSPSAY. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | arf6cyclingpathway. Arf6 signaling events. |
Gene expression databases | |
| ArrayExpress | Q6DN90. |
| Bgee | Q6DN90. |
| CleanEx | HS_IQSEC1. |
| GermOnline | ENSG00000144711. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000048. IQ_CaM_bd_region. IPR001849. Pleckstrin_homology. IPR000904. Sec7. [Graphical view] |
| Pfam | PF01369. Sec7. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00222. Sec7. 1 hit. [Graphical view] |
| PROSITE | PS50096. IQ. 1 hit. PS50003. PH_DOMAIN. False negative. PS50190. SEC7. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 37432. |
| SOURCE | Search... |
Entry information
| Entry name | IQEC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6DN90 Secondary accession number(s): O94863, Q96D85 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with


