Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP11500
Secondary Accession Numbers
  • 17854
Name Differentially expressed in FDCP 6 homolog
Synonyms
  1. DEF-6
  2. IRF4-binding protein
Gene Name DEF6
Protein Type Unknown
Biological Properties
General Function Cell cycle control, cell division, chromosome partitioning
Specific Function Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP-70 signaling
Pathways Not Available
Reactions Not Available
GO Classification Not Available
Cellular Location
  1. Cell membrane
  2. Nucleus
  3. Cytoplasm
Gene Properties
Chromosome Location Chromosome:6
Locus 6p21.33-p21.1
SNPs DEF6
Gene Sequence
>1896 bp
ATGGCCCTGCGCAAGGAACTGCTCAAGTCCATCTGGTACGCCTTTACCGCGCTGGACGTG
GAGAAGAGTGGCAAAGTCTCCAAGTCCCAGCTCAAGGTGCTGTCCCACAACCTGTACACG
GTCCTGCACATCCCCCATGACCCCGTGGCCCTGGAGGAACACTTCCGAGATGATGATGAC
GGCCCTGTGTCCAGCCAGGGATACATGCCCTACCTCAACAAGTACATCCTGGACAAGGTG
GAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAG
AAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGC
CTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGAT
GAGGTGGAATACCTGCTGAAAAAGGTACTCAGCAGCATGAGCTTGGAGGTGAGCTTGGGT
GAGCTGGAGGAGCTTCTGGCCCAGGAGGCCCAGGTGGCCCAGACCACCGGGGGGCTCAGC
GTCTGGCAGTTCCTGGAGCTCTTCAATTCGGGCCGCTGCCTGCGGGGCGTGGGCCGGGAC
ACCCTCAGCATGGCCATCCACGAGGTCTACCAGGAGCTCATCCAAGATGTCCTGAAGCAG
GGCTACCTGTGGAAGCGAGGGCACCTGAGAAGGAACTGGGCCGAACGCTGGTTCCAGCTG
CAGCCCAGCTGCCTCTGCTACTTTGGGAGTGAAGAGTGCAAAGAGAAAAGGGGCATTATC
CCGCTGGATGCACACTGCTGCGTGGAGGTGCTGCCAGACCGCGACGGAAAGCGCTGCATG
TTCTGTGTGAAGACAGCCAACCGCACGTATGAGATGAGCGCCTCAGACACGCGCCAGCGC
CAGGAGTGGACAGCTGCCATCCAGATGGCGATCCGGCTGCAGGCCGAGGGGAAGACGTCC
CTACACAAGGACCTGAAGCAGAAACGGCGCGAGCAGCGGGAGCAGCGGGAGCGGCGCCGG
GCGGCCAAGGAAGAGGAGCTGCTGCGGCTGCAGCAGCTGCAGGAGGAGAAGGAGCGGAAG
CTGCAGGAGCTGGAGCTGCTGCAGGAGGCGCAGCGGCAGGCCGAGCGGCTGCTGCAGGAG
GAGGAGGAACGGCGCCGCAGCCAGCACCGCGAGCTGCAGCAGGCGCTCGAGGGCCAACTG
CGCGAGGCGGAGCAGGCCCGGGCCTCCATGCAGGCTGAGATGGAGCTGAAGGAGGAGGAG
GCTGCCCGGCAGCGGCAGCGCATCAAGGAGCTGGAGGAGATGCAGCAGCGGTTGCAGGAG
GCCCTGCAACTAGAGGTGAAAGCTCGGCGAGATGAAGAATCTGTGCGAATCGCTCAGACC
AGACTGCTGGAAGAGGAGGAAGAGAAGCTGAAGCAGTTGATGCAGCTGAAGGAGGAGCAG
GAGCGCTACATCGAACGGGCGCAGCAGGAGAAGGAAGAGCTGCAGCAGGAGATGGCACAG
CAGAGCCGCTCCCTGCAGCAGGCCCAGCAGCAGCTGGAGGAGGTGCGGCAGAACCGGCAG
AGGGCTGACGAGGATGTGGAGGCTGCCCAGAGAAAACTGCGCCAGGCCAGCACCAACGTG
AAACACTGGAATGTCCAGATGAACCGGCTGATGCATCCAATTGAGCCTGGAGATAAGCGT
CCGGTCACCAGCAGCTCCTTCTCAGGCTTCCAGCCCCCTCTGCTTGCCCACCGTGACTCC
TCCCTAAAGCGCCTGACCCGCTGGGGATCCCAGGGCAACAGGACCCCCTCGCCCAACAGC
AATGAGCAGCAGAAGTCCCTCAATGGTGGGGATGAGGCTCCTGCCCCGGCTTCCACCCCT
CAGGAAGATAAACTGGATCCAGCACCAGAAAATTAG
Protein Properties
Number of Residues 631
Molecular Weight 73909.8
Theoretical pI 5.89
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Differentially expressed in FDCP 6 homolog
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDD
GPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFR
LWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLS
VWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQL
QPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQR
QEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERK
LQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEE
AARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQ
ERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNV
KHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNS
NEQQKSLNGGDEAPAPASTPQEDKLDPAPEN
GenBank ID Protein 10178881
UniProtKB/Swiss-Prot ID Q9H4E7
UniProtKB/Swiss-Prot Entry Name DEFI6_HUMAN
PDB IDs Not Available
GenBank Gene ID AJ276095
GeneCard ID DEF6
GenAtlas ID DEF6
HGNC ID HGNC:2760
References
General References
  1. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed:14574404 ]
  2. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  3. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  4. Oka T, Ihara S, Fukui Y: Cooperation of DEF6 with activated Rac in regulating cell morphology. J Biol Chem. 2007 Jan 19;282(3):2011-8. Epub 2006 Nov 22. [PubMed:17121847 ]
  5. Gupta S, Lee A, Hu C, Fanzo J, Goldberg I, Cattoretti G, Pernis AB: Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system. Hum Immunol. 2003 Apr;64(4):389-401. [PubMed:12651066 ]
  6. Mavrakis KJ, McKinlay KJ, Jones P, Sablitzky F: DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA. Exp Cell Res. 2004 Apr 1;294(2):335-44. [PubMed:15023524 ]
  7. Gupta S, Fanzo JC, Hu C, Cox D, Jang SY, Lee AE, Greenberg S, Pernis AB: T cell receptor engagement leads to the recruitment of IBP, a novel guanine nucleotide exchange factor, to the immunological synapse. J Biol Chem. 2003 Oct 31;278(44):43541-9. Epub 2003 Aug 15. [PubMed:12923183 ]