Q8TCU6 (PREX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 119.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein Short name=P-Rex1 Short name=PtdIns(3,4,5)-dependent Rac exchanger 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1659 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils. |
| Subunit structure | Interacts preferentially with RAC2 By similarity. Interacts with RAC1. |
| Subcellular location | Cytoplasm › cytosol. Cell membrane. Note: Mainly cytosolic. Some amount is apparently associated to the plasma membrane. |
| Tissue specificity | Mainly expressed in peripheral blood leukocytes and brain. Expressed at intermediate level in spleen and lymph nodes, and weakly expressed in other tissues. |
| Sequence similarities | Contains 2 DEP domains. Contains 1 DH (DBL-homology) domain. Contains 1 PDZ (DHR) domain. Contains 1 PH domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Akt1 | P31750 | 2 | EBI-1046542,EBI-298707 | From a different organism. |
| MTOR | P42345 | 11 | EBI-1046542,EBI-359260 | |
| RICTOR | Q6R327 | 3 | EBI-1046542,EBI-1387196 | |
| RPTOR | Q8N122 | 2 | EBI-1046542,EBI-1567928 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8TCU6-1) 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: Q8TCU6-2) The sequence of this isoform differs from the canonical sequence as follows: 1-703: Missing. 704-708: TKAKE → MGLEQ | ||||||
| Isoform 3 (identifier: Q8TCU6-3) The sequence of this isoform differs from the canonical sequence as follows: 1471-1561: VLENVEGLPS...PKPGAAGSVG → GELQAWGRED...TCPRMPAPRR 1562-1659: Missing. | ||||||
| Note: Gene prediction based on EST data. No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1659 | 1659 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | PRO_0000080965 | |||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||
| Domain | 49 – 240 | 192 | DH | ||||||||||||||||||||||||
| Domain | 271 – 392 | 122 | PH | ||||||||||||||||||||||||
| Domain | 421 – 496 | 76 | DEP 1 | ||||||||||||||||||||||||
| Domain | 523 – 597 | 75 | DEP 2 | ||||||||||||||||||||||||
| Domain | 625 – 703 | 79 | PDZ | ||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||
| Alternative sequence | 1 – 703 | 703 | Missing in isoform 2. | VSP_001818 | |||||||||||||||||||||||
| Alternative sequence | 704 – 708 | 5 | TKAKE → MGLEQ in isoform 2. | VSP_001819 | |||||||||||||||||||||||
| Alternative sequence | 1471 – 1561 | 91 | VLENV…AGSVG → GELQAWGREDHGGRAKATKH TGSQPPARPRHLPSQCWRTW RGCLLQAARPRRICSRTSTR SPWRKFSSITANSGHFTWSG LTCPRMPAPRR in isoform 3. | VSP_015090 | |||||||||||||||||||||||
| Alternative sequence | 1562 – 1659 | 98 | Missing in isoform 3. | VSP_015091 | |||||||||||||||||||||||
| Natural variant | 659 | 1 | V → M. Ref.8 Corresponds to variant rs55904123 [ dbSNP | Ensembl ]. | VAR_061798 | |||||||||||||||||||||||
| Natural variant | 696 | 1 | R → C. Corresponds to variant rs7271583 [ dbSNP | Ensembl ]. | VAR_057191 | |||||||||||||||||||||||
| Natural variant | 786 | 1 | Q → H. Ref.8 Corresponds to variant rs41283558 [ dbSNP | Ensembl ]. | VAR_061799 | |||||||||||||||||||||||
| Natural variant | 1118 | 1 | A → T. Ref.1 Corresponds to variant rs6012504 [ dbSNP | Ensembl ]. | VAR_057192 | |||||||||||||||||||||||
| Natural variant | 1240 | 1 | V → I. Ref.8 Corresponds to variant rs16993997 [ dbSNP | Ensembl ]. | VAR_023210 | |||||||||||||||||||||||
| Natural variant | 1340 | 1 | K → E. Ref.1 Ref.4 Ref.5 Ref.7 Ref.8 Corresponds to variant rs2664521 [ dbSNP | Ensembl ]. | VAR_023211 | |||||||||||||||||||||||
| Natural variant | 1559 | 1 | S → T. Corresponds to variant rs3936192 [ dbSNP | Ensembl ]. | VAR_023212 | |||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||
| Sequence conflict | 910 | 1 | A → V in CAB66514. Ref.2 | ||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||
| Helix | 607 – 620 | 14 | |||||||||||||||||||||||||
| Beta strand | 623 – 628 | 6 | |||||||||||||||||||||||||
| Beta strand | 632 – 642 | 11 | |||||||||||||||||||||||||
| Beta strand | 645 – 651 | 7 | |||||||||||||||||||||||||
| Helix | 656 – 660 | 5 | |||||||||||||||||||||||||
| Beta strand | 667 – 671 | 5 | |||||||||||||||||||||||||
| Beta strand | 674 – 676 | 3 | |||||||||||||||||||||||||
| Helix | 681 – 693 | 13 | |||||||||||||||||||||||||
| Beta strand | 698 – 703 | 6 | |||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "P-Rex1, a PtdIns(3,4,5)P3- and Gbetagamma-regulated guanine-nucleotide exchange factor for Rac." Welch H.C.E., Coadwell W.J., Ellson C.D., Ferguson G.J., Andrews S.R., Erdjument-Bromage H., Tempst P., Hawkins P.T., Stephens L.R. Cell 108:809-821(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 182-198; 913-920; 1463-1470; 1501-1506 AND 1590-1604, CHARACTERIZATION, VARIANTS THR-1118 AND GLU-1340. |
| [2] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Amygdala. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1340. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 39-1659 (ISOFORM 1), VARIANT GLU-1340. Tissue: Brain. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 177-1659 (ISOFORM 1), VARIANT GLU-1340. Tissue: Eye. |
| [8] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 337-1659 (ISOFORM 1), VARIANTS MET-659; HIS-786; ILE-1240 AND GLU-1340. Tissue: Melanoma. |
| [9] | "Crystal structure of the first PDZ domain of PREX1." Structural genomics consortium (SGC) Submitted (FEB-2011) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.28 ANGSTROMS) OF 607-706. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AJ320261 mRNA. Translation: CAC86401.1. AL136579 mRNA. Translation: CAB66514.1. AL133342, AL035106, AL445192 Genomic DNA. Translation: CAI23274.1. AL445192, AL035106, AL133342 Genomic DNA. Translation: CAI39886.1. AL035106, AL445192, AL133342 Genomic DNA. Translation: CAI43186.1. AB037836 mRNA. Translation: BAA92653.2. CH471077 Genomic DNA. Translation: EAW75684.1. CH471077 Genomic DNA. Translation: EAW75685.1. BC053616 mRNA. Translation: AAH53616.1. AL832913 mRNA. Translation: CAH10614.1. | ||||||||||||
| IPI | IPI00218429. IPI00295252. IPI00552692. | ||||||||||||
| RefSeq | NP_065871.2. NM_020820.3. | ||||||||||||
| UniGene | Hs.153310. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q8TCU6. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q8TCU6. 11 interactions. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q8TCU6. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 148886999. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q8TCU6. | ||||||||||||
| PRIDE | Q8TCU6. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000371941; ENSP00000361009; ENSG00000124126. ENST00000396220; ENSP00000379522; ENSG00000124126. | ||||||||||||
| GeneID | 57580. | ||||||||||||
| KEGG | hsa:57580. | ||||||||||||
| UCSC | uc002xtv.1. human. uc002xtw.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 57580. | ||||||||||||
| GeneCards | GC20M047240. | ||||||||||||
| H-InvDB | HIX0138059. | ||||||||||||
| HGNC | HGNC:32594. PREX1. | ||||||||||||
| HPA | HPA001927. | ||||||||||||
| MIM | 606905. gene. | ||||||||||||
| neXtProt | NX_Q8TCU6. | ||||||||||||
| PharmGKB | PA164725018. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG5422. | ||||||||||||
| HOVERGEN | HBG053677. | ||||||||||||
| InParanoid | Q8TCU6. | ||||||||||||
| KO | K12365. | ||||||||||||
| OMA | FKNEQVM. | ||||||||||||
| OrthoDB | EOG479F66. | ||||||||||||
| PhylomeDB | Q8TCU6. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | pi3kcipathway. Class I PI3K signaling events. | ||||||||||||
| Reactome | REACT_111102. Signal Transduction. | ||||||||||||
Gene expression databases | |||||||||||||
| Bgee | Q8TCU6. | ||||||||||||
| Genevestigator | Q8TCU6. | ||||||||||||
| GermOnline | ENSG00000124126. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.10.10. 2 hits. 1.20.900.10. 1 hit. 2.30.29.30. 1 hit. | ||||||||||||
| InterPro | IPR000591. DEP_dom. IPR000219. DH-domain. IPR001331. GDS_CDC24_CS. IPR001478. PDZ. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR011991. WHTH_DNA-bd_dom. [Graphical view] | ||||||||||||
| Pfam | PF00610. DEP. 2 hits. PF00169. PH. 1 hit. PF00621. RhoGEF. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00049. DEP. 2 hits. SM00228. PDZ. 2 hits. SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF48065. DH-domain. 1 hit. SSF50156. PDZ. 2 hits. | ||||||||||||
| PROSITE | PS50186. DEP. 2 hits. PS00741. DH_1. 1 hit. PS50010. DH_2. 1 hit. PS50106. PDZ. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q8TCU6. | ||||||||||||
| GenomeRNAi | 57580. | ||||||||||||
| NextBio | 64135. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | PREX1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TCU6 Secondary accession number(s): E1P5X9 Q9UGQ4 | ||||||||
| 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 20 Human chromosome 20: 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
