Human Gene ARHGEF7 (ENST00000375736.8) from GENCODE V44
  Description: Homo sapiens Rho guanine nucleotide exchange factor 7 (ARHGEF7), transcript variant 1, mRNA. (from RefSeq NM_003899)
RefSeq Summary (NM_003899): This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016].
Gencode Transcript: ENST00000375736.8
Gencode Gene: ENSG00000102606.20
Transcript (Including UTRs)
   Position: hg38 chr13:111,153,738-111,305,731 Size: 151,994 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg38 chr13:111,217,682-111,303,113 Size: 85,432 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:111,153,738-111,305,731)mRNA (may differ from genome)Protein (646 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARHG7_HUMAN
DESCRIPTION: RecName: Full=Rho guanine nucleotide exchange factor 7; AltName: Full=Beta-Pix; AltName: Full=COOL-1; AltName: Full=PAK-interacting exchange factor beta; AltName: Full=p85;
FUNCTION: Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons.
SUBUNIT: Interacts with PAK kinases through the SH3 domain. Interacts with GIT1 and TGFB1I1. Interacts with PTK2/FAK1 and RAC1. Interacts with ITCH (By similarity). Interacts with unphosphorylated PAK1. Interacts with SCRIB; interaction is direct and may play a role in regulation of apoptosis. Interacts with FRMPD4 (via N-terminus). Interacts with CaMK1.
INTERACTION: Q9Y2X7:GIT1; NbExp=2; IntAct=EBI-717515, EBI-466061; P41227:NAA10; NbExp=3; IntAct=EBI-717515, EBI-747693;
SUBCELLULAR LOCATION: Cell junction, focal adhesion (By similarity). Cell projection, ruffle (By similarity). Cytoplasm, cell cortex (By similarity). Note=Detected at cell adhesions. A small proportion is detected at focal adhesions.
PTM: Phosphorylated by PTK2/FAK1; this promotes interaction with RAC1 (By similarity). Phosphorylated on Ser-694 by CaMK1; enhancement of GEF activity and downstream activation of RAC1.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=AAH50521.1; Type=Erroneous initiation; Sequence=BAA09763.2; Type=Erroneous initiation; Sequence=CAD38906.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.34 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 548.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -198.30473-0.419 Picture PostScript Text
3' UTR -864.002618-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001715 - CH-domain
IPR000219 - DH-domain
IPR001331 - GDS_CDC24_CS
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00169 - PH domain
PF00621 - RhoGEF domain
PF07653 - Variant SH3 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BY1 - NMR MuPIT 1ZSG - NMR MuPIT 2L3G - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q14155
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0019901 protein kinase binding

Biological Process:
GO:0002244 hematopoietic progenitor cell differentiation
GO:0007030 Golgi organization
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007399 nervous system development
GO:0010763 positive regulation of fibroblast migration
GO:0030032 lamellipodium assembly
GO:0032092 positive regulation of protein binding
GO:0035023 regulation of Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0043065 positive regulation of apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0048013 ephrin receptor signaling pathway
GO:0048041 focal adhesion assembly
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0060124 positive regulation of growth hormone secretion
GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
GO:1904424 regulation of GTP binding
GO:2000394 positive regulation of lamellipodium morphogenesis

Cellular Component:
GO:0000322 storage vacuole
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0032991 macromolecular complex
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AB177848 - Homo sapiens mRNA for KIAA0142 splice variant 1.
BC060776 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7, mRNA (cDNA clone MGC:71542 IMAGE:5271977), complete cds.
BC033905 - Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7, mRNA (cDNA clone MGC:33815 IMAGE:5262912), complete cds.
AL834228 - Homo sapiens mRNA; cDNA DKFZp761K1021 (from clone DKFZp761K1021).
CU687414 - Synthetic construct Homo sapiens gateway clone IMAGE:100021238 5' read ARHGEF7 mRNA.
CU689800 - Synthetic construct Homo sapiens gateway clone IMAGE:100022699 5' read ARHGEF7 mRNA.
GQ129214 - Synthetic construct Homo sapiens clone HAIB:100068509; DKFZo004F0334 Rho guanine nucleotide exchange factor (GEF) 7 protein (ARHGEF7) gene, partial cds.
KJ892642 - Synthetic construct Homo sapiens clone ccsbBroadEn_02036 ARHGEF7 gene, encodes complete protein.
KJ897923 - Synthetic construct Homo sapiens clone ccsbBroadEn_07317 ARHGEF7 gene, encodes complete protein.
EU832819 - Synthetic construct Homo sapiens clone HAIB:100067848; DKFZo008F0333 Rho guanine nucleotide exchange factor (GEF) 7 protein (ARHGEF7) gene, encodes complete protein.
AK300157 - Homo sapiens cDNA FLJ52750 complete cds, highly similar to Rho guanine nucleotide exchange factor 7.
AB177849 - Homo sapiens mRNA for KIAA0142 splice variant 2.
D63476 - Homo sapiens mRNA for KIAA0142 gene.
BC050521 - Homo sapiens, Rho guanine nucleotide exchange factor (GEF) 7, clone IMAGE:4508752, mRNA, partial cds.
AK300272 - Homo sapiens cDNA FLJ56152 complete cds, highly similar to Rho guanine nucleotide exchange factor 7.
EU832475 - Synthetic construct Homo sapiens clone HAIB:100067504; DKFZo008D0129 Rho guanine nucleotide exchange factor (GEF) 7 protein (ARHGEF7) gene, encodes complete protein.
EU832554 - Synthetic construct Homo sapiens clone HAIB:100067583; DKFZo004D0130 Rho guanine nucleotide exchange factor (GEF) 7 protein (ARHGEF7) gene, encodes complete protein.
AB383765 - Synthetic construct DNA, clone: pF1KSDA0142, Homo sapiens ARHGEF7 gene for Rho guanine nucleotide exchange factor 7, complete cds, without stop codon, in Flexi system.
AK295472 - Homo sapiens cDNA FLJ59625 complete cds, highly similar to Rho guanine nucleotide exchange factor 7.
AB075521 - Homo sapiens neuroblastoma cDNA, clone:Nbla10314, full insert sequence.
JD479877 - Sequence 460901 from Patent EP1572962.
AJ844629 - Homo sapiens partial mRNA for rho guanine nucleotide exchange factor 7 (ARHGEF7 gene), 5' end.
AK308897 - Homo sapiens cDNA, FLJ98938.
AJ844630 - Homo sapiens partial ARHGEF7 pseudogene mRNA.
AK095058 - Homo sapiens cDNA FLJ37739 fis, clone BRHIP2021858, highly similar to Mus musculus betaPix-b mRNA.
AJ844631 - Homo sapiens partial mRNA for rho guanine nucleotide exchange factor 7 (ARHGEF7 gene), 3' end.
JD501122 - Sequence 482146 from Patent EP1572962.
JD452533 - Sequence 433557 from Patent EP1572962.
AJ844632 - Homo sapiens partial mRNA for rho guanine nucleotide exchange factor 7 (ARHGEF7 gene), 3'UTR.
JD340323 - Sequence 321347 from Patent EP1572962.
JD040467 - Sequence 21491 from Patent EP1572962.
JD320703 - Sequence 301727 from Patent EP1572962.
JD309668 - Sequence 290692 from Patent EP1572962.
JD160559 - Sequence 141583 from Patent EP1572962.
JD519297 - Sequence 500321 from Patent EP1572962.
JD078785 - Sequence 59809 from Patent EP1572962.
JD365276 - Sequence 346300 from Patent EP1572962.
JD459226 - Sequence 440250 from Patent EP1572962.
JD099167 - Sequence 80191 from Patent EP1572962.
JD556148 - Sequence 537172 from Patent EP1572962.
JD208543 - Sequence 189567 from Patent EP1572962.
JD094509 - Sequence 75533 from Patent EP1572962.
JD166288 - Sequence 147312 from Patent EP1572962.
DQ588716 - Homo sapiens piRNA piR-55828, complete sequence.
JD101119 - Sequence 82143 from Patent EP1572962.
JD409908 - Sequence 390932 from Patent EP1572962.
JD354680 - Sequence 335704 from Patent EP1572962.
JD099842 - Sequence 80866 from Patent EP1572962.
AJ844633 - Homo sapiens partial mRNA for rho guanine nucleotide exchange factor 7 (ARHGEF7 gene), 3'UTR, 3' end.
JD537710 - Sequence 518734 from Patent EP1572962.
JD084461 - Sequence 65485 from Patent EP1572962.
JD201884 - Sequence 182908 from Patent EP1572962.
JD076791 - Sequence 57815 from Patent EP1572962.
JD540095 - Sequence 521119 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04810 - Regulation of actin cytoskeleton

Reactome (by CSHL, EBI, and GO)

Protein Q14155 (Reactome details) participates in the following event(s):

R-HSA-3928631 GIT1 binds bPIX
R-HSA-183084 CBL escapes CDC42-mediated inhibition by down-regulating the adaptor molecule Beta-Pix
R-HSA-183002 Beta-Pix:CDC42:GTP binds CBL in EGF:p-6Y-EGFR:CBL:CIN85
R-HSA-183094 CDC42:GTP binds CBL:Beta-Pix
R-HSA-3928633 bPIX exchanges GTP for GDP on RAC, activating it
R-HSA-8951490 CIN85 dissociates from EGF:p-6Y-EGFR:CBL:Beta-Pix:CDC42:GTP:CIN85
R-HSA-3928641 PAK binds RAC and bPIX
R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-3928625 PAKs autophosphorylate
R-HSA-3928640 PAKs phosphorylate MLC
R-HSA-3928664 Ephrin signaling
R-HSA-182971 EGFR downregulation
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-177929 Signaling by EGFR
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-422475 Axon guidance
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling

-  Other Names for This Gene
  Alternate Gene Symbols: ARHG7_HUMAN, B1ALK6, B1ALK8, COOL1, ENST00000375736.1, ENST00000375736.2, ENST00000375736.3, ENST00000375736.4, ENST00000375736.5, ENST00000375736.6, ENST00000375736.7, KIAA0142, Nbla10314, NM_003899, P85SPR, PAK3BP, PIXB, Q14155, Q3LIA4, Q5W9H0, Q6P9G3, Q6PII2, Q86W63, Q8N3M1, uc001vrw.1, uc001vrw.2, uc001vrw.3, uc001vrw.4, uc001vrw.5
UCSC ID: ENST00000375736.8
RefSeq Accession: NM_003899
Protein: Q14155 (aka ARHG7_HUMAN or ARH7_HUMAN)
CCDS: CCDS9521.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.