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Protein

Differentially expressed in FDCP 6 homolog

Gene

DEF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 ZAP70 signaling (By similarity).By similarity2 Publications

Enzyme and pathway databases

SIGNORiQ9H4E7

Names & Taxonomyi

Protein namesi
Recommended name:
Differentially expressed in FDCP 6 homolog
Short name:
DEF-6
Alternative name(s):
IRF4-binding protein
Gene namesi
Name:DEF6
Synonyms:IBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000023892.10
HGNCiHGNC:2760 DEF6
MIMi610094 gene
neXtProtiNX_Q9H4E7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi18L → N: Abolishes interaction with RAC1. 1 Publication1
Mutagenesisi31 – 33LKV → NKS: Abolishes interaction with RAC1. 1 Publication3
Mutagenesisi210Y → F: Loss of phosphorylation by LCK and abolition of PtdInsP3 binding. 1 Publication1
Mutagenesisi225 – 226KR → AA: Abolishes PtdInsP3 binding. 1 Publication2
Mutagenesisi230 – 231RR → AA: Abolishes PtdInsP3 binding. 1 Publication2
Mutagenesisi236R → C: Abolishes PtdInsP3 binding. 1 Publication1

Organism-specific databases

DisGeNETi50619
OpenTargetsiENSG00000023892
PharmGKBiPA27237

Polymorphism and mutation databases

BioMutaiDEF6
DMDMi74761430

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002945221 – 631Differentially expressed in FDCP 6 homologAdd BLAST631

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei210Phosphotyrosine1 Publication1
Modified residuei225N6-acetyllysineCombined sources1
Modified residuei590PhosphoserineCombined sources1

Post-translational modificationi

Tyrosine-phosphorylated by tyrosine-protein kinase LCK in response to T-cell activation.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H4E7
MaxQBiQ9H4E7
PaxDbiQ9H4E7
PeptideAtlasiQ9H4E7
PRIDEiQ9H4E7
ProteomicsDBi80827

PTM databases

iPTMnetiQ9H4E7
PhosphoSitePlusiQ9H4E7

Expressioni

Tissue specificityi

Broadly expressed in the immune system and can be detected in T and B-cells.1 Publication

Gene expression databases

BgeeiENSG00000023892 Expressed in 174 organ(s), highest expression level in blood
CleanExiHS_DEF6
ExpressionAtlasiQ9H4E7 baseline and differential
GenevisibleiQ9H4E7 HS

Organism-specific databases

HPAiHPA038975
HPA038976

Interactioni

Subunit structurei

Interacts with ZAP70 (By similarity). Interacts with IRF4, activated RAC1 and F-actin. Both the phosphorylated and non-phosphorylated forms bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3).By similarity3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi119099, 33 interactors
IntActiQ9H4E7, 28 interactors
STRINGi9606.ENSP00000319831

Structurei

3D structure databases

ProteinModelPortaliQ9H4E7
SMRiQ9H4E7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini216 – 312PHPROSITE-ProRule annotationAdd BLAST97

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi57 – 60Poly-Asp4
Compositional biasi331 – 497Glu-richAdd BLAST167

Domaini

The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.1 Publication

Phylogenomic databases

eggNOGiENOG410IG09 Eukaryota
ENOG410Z316 LUCA
GeneTreeiENSGT00390000005512
HOGENOMiHOG000285974
HOVERGENiHBG053201
InParanoidiQ9H4E7
OMAiRRNWKER
OrthoDBiEOG091G0SJG
PhylomeDBiQ9H4E7
TreeFamiTF333160

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9H4E7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALRKELLKS IWYAFTALDV EKSGKVSKSQ LKVLSHNLYT VLHIPHDPVA
60 70 80 90 100
LEEHFRDDDD GPVSSQGYMP YLNKYILDKV EEGAFVKEHF DELCWTLTAK
110 120 130 140 150
KNYRADSNGN SMLSNQDAFR LWCLFNFLSE DKYPLIMVPD EVEYLLKKVL
160 170 180 190 200
SSMSLEVSLG ELEELLAQEA QVAQTTGGLS VWQFLELFNS GRCLRGVGRD
210 220 230 240 250
TLSMAIHEVY QELIQDVLKQ GYLWKRGHLR RNWAERWFQL QPSCLCYFGS
260 270 280 290 300
EECKEKRGII PLDAHCCVEV LPDRDGKRCM FCVKTANRTY EMSASDTRQR
310 320 330 340 350
QEWTAAIQMA IRLQAEGKTS LHKDLKQKRR EQREQRERRR AAKEEELLRL
360 370 380 390 400
QQLQEEKERK LQELELLQEA QRQAERLLQE EEERRRSQHR ELQQALEGQL
410 420 430 440 450
REAEQARASM QAEMELKEEE AARQRQRIKE LEEMQQRLQE ALQLEVKARR
460 470 480 490 500
DEESVRIAQT RLLEEEEEKL KQLMQLKEEQ ERYIERAQQE KEELQQEMAQ
510 520 530 540 550
QSRSLQQAQQ QLEEVRQNRQ RADEDVEAAQ RKLRQASTNV KHWNVQMNRL
560 570 580 590 600
MHPIEPGDKR PVTSSSFSGF QPPLLAHRDS SLKRLTRWGS QGNRTPSPNS
610 620 630
NEQQKSLNGG DEAPAPASTP QEDKLDPAPE N
Length:631
Mass (Da):73,910
Last modified:March 1, 2001 - v1
Checksum:i466A9A3D6D5CB8D8
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y7V7H0Y7V7_HUMAN
Differentially-expressed in FDCP 6 ...
DEF6
129Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033193287N → T1 PublicationCorresponds to variant dbSNP:rs2395617Ensembl.1
Natural variantiVAR_033194578R → H. Corresponds to variant dbSNP:rs9296146Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY241694 mRNA Translation: AAO91767.1
AJ276095 mRNA Translation: CAC08450.1
Z97832 Genomic DNA No translation available.
CCDSiCCDS4802.1
RefSeqiNP_071330.3, NM_022047.3
UniGeneiHs.15476

Genome annotation databases

EnsembliENST00000316637; ENSP00000319831; ENSG00000023892
GeneIDi50619
KEGGihsa:50619
UCSCiuc003okk.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY241694 mRNA Translation: AAO91767.1
AJ276095 mRNA Translation: CAC08450.1
Z97832 Genomic DNA No translation available.
CCDSiCCDS4802.1
RefSeqiNP_071330.3, NM_022047.3
UniGeneiHs.15476

3D structure databases

ProteinModelPortaliQ9H4E7
SMRiQ9H4E7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119099, 33 interactors
IntActiQ9H4E7, 28 interactors
STRINGi9606.ENSP00000319831

PTM databases

iPTMnetiQ9H4E7
PhosphoSitePlusiQ9H4E7

Polymorphism and mutation databases

BioMutaiDEF6
DMDMi74761430

Proteomic databases

EPDiQ9H4E7
MaxQBiQ9H4E7
PaxDbiQ9H4E7
PeptideAtlasiQ9H4E7
PRIDEiQ9H4E7
ProteomicsDBi80827

Protocols and materials databases

DNASUi50619
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316637; ENSP00000319831; ENSG00000023892
GeneIDi50619
KEGGihsa:50619
UCSCiuc003okk.4 human

Organism-specific databases

CTDi50619
DisGeNETi50619
EuPathDBiHostDB:ENSG00000023892.10
GeneCardsiDEF6
H-InvDBiHIX0005803
HGNCiHGNC:2760 DEF6
HPAiHPA038975
HPA038976
MIMi610094 gene
neXtProtiNX_Q9H4E7
OpenTargetsiENSG00000023892
PharmGKBiPA27237
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG09 Eukaryota
ENOG410Z316 LUCA
GeneTreeiENSGT00390000005512
HOGENOMiHOG000285974
HOVERGENiHBG053201
InParanoidiQ9H4E7
OMAiRRNWKER
OrthoDBiEOG091G0SJG
PhylomeDBiQ9H4E7
TreeFamiTF333160

Enzyme and pathway databases

SIGNORiQ9H4E7

Miscellaneous databases

ChiTaRSiDEF6 human
GeneWikiiDEF6
GenomeRNAii50619
PROiPR:Q9H4E7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000023892 Expressed in 174 organ(s), highest expression level in blood
CleanExiHS_DEF6
ExpressionAtlasiQ9H4E7 baseline and differential
GenevisibleiQ9H4E7 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDEFI6_HUMAN
AccessioniPrimary (citable) accession number: Q9H4E7
Secondary accession number(s): Q86VF4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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