Descriptions

The Vav family is a group of tyrosine phosphorylation-dependent guanine nucleotide exchange factors (GEFs) that activate members of the Rac and Rho families of guanosine triphosphatases (GTPases) downstream of protein tyrosine kinases. When the tyrosine residues within the acidic (Ac) region are non-phosphorylated, the CH domain and Ac region occlude the GTPase-binding site within DH domain. The interaction is stabilized by the interaction between the hydroxyl group of Tyr174 within Ac region and GTPase binding site as well as the interaction between CH domain and DH-PH domains. The Y174F mutant displays constitutive and phosphorylation-independent catalytic activity. In addition to the N-terminal autoinhibitory regions, the truncation of C-terminal SH3 domain also relives the autoinhibition. C-terminal SH3 domain interacts with DH-PH domains and the intramolecular interaction occludes the GTPase-binding site of DH domain.

Autoinhibitory domains (AIDs)

Target domain

272-354 (Ets domain)

Relief mechanism

Partner binding

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q3UPW2-2

Entry ID Method Resolution Chain Position Source
3JTG X-ray 220 A A 289-391 PDB
AF-Q3UPW2-F1 Predicted AlphaFoldDB

21 variants for Q3UPW2-2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388501462 11 F>L No EVA
rs3388500888 40 V>E No EVA
rs3388503006 55 P>M No EVA
rs3388499975 77 S>F No EVA
rs3388499781 83 P>M No EVA
rs31978075 95 I>N No EVA
rs3388499803 97 Y>N No EVA
rs230339373 148 T>A No EVA
rs37603512 156 S>L No EVA
rs3388502078 167 M>* No EVA
rs3388503098 190 L>F No EVA
rs31347024 231 D>D No EVA
rs31447184 233 G>T No EVA
rs3390689569 236 D>E No EVA
rs3390689535 236 D>R No EVA
rs3390623642 241 L>* No EVA
rs3388501800 301 D>R No EVA
rs3390689494 314 K>P No EVA
rs3388498409 353 M>T No EVA
rs3388502710 357 Y>S No EVA
rs3388499998 360 E>R No EVA

No associated diseases with Q3UPW2-2

2 regional properties for Q3UPW2-2

Type Name Position InterPro Accession
repeat Leucine-rich repeat 534 - 593 IPR001611
domain NB-ARC 156 - 397 IPR002182

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

12 GO annotations of biological process

Name Definition
anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
blastocyst development The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
mammary gland involution The tissue remodeling that removes differentiated mammary epithelia during weaning.
negative regulation of transcription, DNA-templated Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MEPWKQCAQW LIHSKVLPPN HRVTWDSAQV FDLAQTLRDG VLLCQLLNNL RPHSINLKEI
70 80 90 100 110 120
NLRPQMSQFL CLKNIRTFLA ACCDTFGMRK SELFEAFDLF DVRDFGKVIE TLSRLSRTPI
130 140 150 160 170 180
ALATGIRPFP TEESINDEDI YKGLPDLIDE TRVEDEEDLY DCVYGEDEGG EVYEDLMKAE
190 200 210 220 230 240
EAQQPKSQEN DIRSCCLAEI RQTEEKYTET LESIEKYFMA PLKRFLTAAE FDSVFINIPD
250 260 270 280 290 300
LVKVHRSLMQ EIHDSIVNKD DQNLYQVFIN YKERLVIYGQ YCSGVESAIS NLDYISKTKE
310 320 330 340 350 360
DVKLKLEECS KRANNGKFTL RDLLVVPMQR VLKYHLLLQE LVKHTHDPME KANLKLALDA
370 380 390 400 410 420
MKDLAQYVNE VKRDNETLRE IKQFQLSIEN LNQPVLLFGR PQGDGEIRIT TLDKHTKQER
430 440 450 460 470 480
HIFLFDLAVI VCKRKGDNYE MKEIIDLQQY KIANNPTTDK ENKKWSYGFY LIHTQGQNGL
490 500 510 520 530 540
EFYCKTKDLK KKWLEQFEMA LSNIRPDYAD SNFHDFKMHT FTRVTSCRVC QMLLRGTFYQ
550 560 570 580 590 600
GYLCFKCGAK AHKECLGRVD NCGRVNSVEQ GPFKPPEKRT NGLRRASRQV DPGLPKMQVI
610 620 630 640 650 660
RNYTGTPAPG LHEGPPLHIQ AGDTVELLRG DAHSVFWQGR NLASGEVGFF PSDAVKPSPC
670 680 690 700 710 720
VPKPVDYSCQ PWYAGPMERL QAETELINRV NSTYLVRHRT KESGEYAISI KYNNEAKHIK
730 740 750 760 770 780
ILTRDGFFHI AENRKFKSLM ELVEYYKHHS LKEGFRTLDT TLQFPYKEPE QPAGQRGNRT
790 800 810 820 830 840
GNSLLSPKVL GIAIARYDFC ARDMRELSLL KGDMVKIYTK MSANGWWRGE VNGRVGWFPS
TYVEEDE