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ARHGEF7
Rho guanine nucleotide exchange factor 7 is a protein that in humans is encoded by the ''ARHGEF7'' gene. ARHGEF7 is commonly known as the p21-activated protein kinase exchange factor beta (beta-PIX or βPIX), because it was identified by binding to p21-activated kinase (PAK) and also contains a guanine nucleotide exchange factor domain. Domains and functions βPIX is a multidomain protein that functions both as a signaling scaffold protein and as an enzyme. βPIX shares this domain structure and signaling function with the highly similar ARHGEF6/αPIX protein. βPIX undergoes extensive alternative splicing to generate multiple variant proteins containing or lacking particular protein domains. Adult forms all lack the amino terminal CH domain, and the two major adult variants have alternate carboxyl terminal region (termed β1 and β2): β1 forms contain the coiled-coil trimerization domain and the PDZ-target motif for binding to PDZ proteins (see below), while β2 forms lac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ARHGEF6
Rho guanine nucleotide exchange factor 6 is a protein that, in humans, is encoded by the ''ARHGEF6'' gene. ARHGEF6 is commonly known as the p21-activated protein kinase exchange factor alpha (alpha-PIX or αPIX), because it was identified by binding to p21-activated kinase (PAK) and also contains a guanine nucleotide exchange factor domain. Domains and functions αPIX is a multidomain protein that functions both as a signaling scaffold protein and as an enzyme. αPIX shares this domain structure and signaling function with the highly similar ARHGEF7/βPIX protein. αPIX contains a central DH/PH RhoGEF domain that functions as a guanine nucleotide exchange factor (GEF) for small GTPases of the Rho family, and specifically Rac and Cdc42. Like other GEFs, αPIX can promote both release of GDP from an inactive small GTP-binding protein and binding of GTP to promote its activation. Signaling scaffolds bind to specific partners to promote efficient signal transduction by arrang ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RhoGEF Domain
RhoGEF domain describes two distinct structural domains with guanine nucleotide exchange factor (GEF) activity to regulate small GTPases in the Rho family. Rho small GTPases are inactive when bound to GDP but active when bound to GTP; RhoGEF domains in proteins are able to promote GDP release and GTP binding to activate specific Rho family members, including RhoA, Rac1 and Cdc42. The largest class of RhoGEFs is composed of proteins containing the " Dbl-homology" (DH) domain, which almost always is found together with a pleckstrin-homology (PH) domain to form a combined DH/PH domain structure. A distinct class of RhoGEFs is those proteins containing the DOCK/CZH/DHR-2 domain. This structure has no sequence similarity with DBL-homology domains. Human proteins containing DH/PH RhoGEF domain ABR; AKAP13/ARHGEF13/Lbc; ALS2; ALS2CL; ARHGEF1/p115-RhoGEF; ARHGEF10; ARHGEF10L; ARHGEF11/PDZ-RhoGEF.; ARHGEF12/LARG; ARHGEF15; ARHGEF16; ARHGEF17; ARHGEF18; ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C-Cbl
E3 ubiquitin-protein ligase CBL is an enzyme that is humans is encoded by the ''CBL'' (Casitas B-lineage Lymphoma) gene. ''CBL'' gene is the founding member the Cbl family. The protein CBL which is an E3 ubiquitin-protein ligase involved in cell signalling and protein ubiquitination. Mutations to this gene have been implicated in a number of human cancers, particularly acute myeloid leukaemia. Discovery In 1989 a virally encoded portion of the chromosomal mouse ''Cbl'' gene was the first member of the Cbl family to be discovered and was named ''v-Cbl'' to distinguish it from normal mouse ''c-Cbl''. The virus used in the experiment was a mouse-tropic strain of Murine leukemia virus isolated from the brain of a mouse captured at Lake Casitas, California known as ''Cas-Br-M'', and was found to have excised approximately a third of the original ''c-Cbl'' gene from a mouse into which it was injected. Sequencing revealed that the portion carried by the retrovirus encoded a ''tyrosi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calponin Homology (CH) Domain
Calponin homology domain (or CH domain) is a family of actin binding domains found in both cytoskeletal proteins and signal transduction proteins. The domain is about 100 amino acids in length and is composed of four alpha helices. It comprises the following groups of actin-binding domains: * Actinin-type (including spectrin, fimbrin, ABP-280) * Calponin-type A comprehensive review of proteins containing this type of actin-binding domains is given in. The CH domain is involved in actin binding in some members of the family. However, in calponins there is evidence that the CH domain is not involved in its actin binding activity. Most proteins have two copies of the CH domain, however some proteins such as calponin and the human vav proto-oncogene () have only a single copy. The structure of an example CH domain has been determined using X-ray crystallography. Examples Human genes encoding calponin homology domain-containing proteins include: * ACTN1, ACTN2, ACTN3, ACTN4, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SHANK1
SH3 and multiple ankyrin repeat domains protein 1 is a protein that in humans is encoded by the ''SHANK1'' gene. Interactions SHANK1 has been shown to Protein-protein interaction, interact with: * ARHGEF7, * BAIAP2, * DNM2, * SPTAN1, and * Somatostatin receptor 2. Clinical Significance SHANK1 is a scaffold protein that plays a critical role in the formation and maintenance of excitatory synapses in the brain. Mutations in the SHANK1 gene have been implicated in a number of neurodevelopmental disorders, including autism spectrum disorder (ASD), schizophrenia, and intellectual disability. In particular, the loss of SHANK1 expression has been linked to ASD, and SHANK1 mutations have been identified in individuals with ASD or other neurodevelopmental disorders. ASD, also known as "autism spectrum disorders", is identified as a group of conditions which cause characteristics in the human brain that lead to impairments. These impairments are such as communication, interest, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GIT1
ARF GTPase-activating protein GIT1 is an enzyme that in humans is encoded by the ''GIT1'' gene. GIT1 contains an ARFGAP domain, Anykrin repeats, and a GRK-interacting domain. The Arf-GAP domain, which enables it to act as a GTPase activating protein (GAP) for the Arf family of GTPases, has been shown to be involved in phosphorylation and inhibition of the ADRB2. If synaptic localization of GIT1 is disturbed, then this is known to affect dendritic spine morphology and formation—this is thought to occur through the Rac1/PAK1/LIMK/CFL1 pathway. Interactions GIT1 has been shown to interact with: * ARHGEF7, * Beta adrenergic receptor kinase, * GIT2, * PCLO, * PLCG1, * PPFIA4 * PTK2, and * liprin-alpha-1 Liprin-alpha-1 is a protein that in humans is encoded by the ''PPFIA1'' gene. Function The protein encoded by this gene is a member of the LAR protein tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of .... References Fu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PAK1
Serine/threonine-protein kinase PAK 1 is an enzyme that in humans is encoded by the ''PAK1'' gene. PAK1 is one of six members of the PAK family of serine/threonine kinases which are broadly divided into group I (PAK1, PAK2 and PAK3) and group II (PAK4, PAK6 and PAK5/7). The PAKs are evolutionarily conserved. PAK1 localizes in distinct sub-cellular domains in the cytoplasm and nucleus. PAK1 regulates cytoskeleton remodeling, phenotypic signaling and gene expression, and affects a wide variety of cellular processes such as directional motility, invasion, metastasis, growth, cell cycle progression, angiogenesis. PAK1-signaling dependent cellular functions regulate both physiologic and disease processes, including cancer, as PAK1 is widely overexpressed and hyperstimulated in human cancer, at-large. Discovery PAK1 was first discovered as an effector of the Rho GTPases in rat brain by Manser and colleagues in 1994. The human PAK1 was identified as a GTP-dependent interacting partner ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PARVB
Beta-parvin is a protein that in humans is encoded by the ''PARVB'' gene. Members of the parvin family, including PARVB, PARVA Alpha-parvin is a protein that in humans is encoded by the ''PARVA'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcrib ... and PARVG, are actin-binding proteins associated with focal contacts. upplied by OMIMref name="entrez"> References Further reading * * * * * * * * * * * * * * {{gene-22-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SNX27
Sorting nexin family member 27, also known as SNX27, is a human gene. This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mice is responsible for the specific recruitment of an isoform of the serotonin 5-hydroxytryptamine 4 receptor into early endosome Endosomes are a collection of intracellular sorting organelles in eukaryotic cells. They are parts of the endocytic membrane transport pathway originating from the trans Golgi network. Molecules or ligands internalized from the plasma membra ...s, suggesting the analogous role for the human protein. References Further reading * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SCRIB
SCRIB, also known as Scribble, SCRIBL, or Scribbled homolog (Drosophila), is a scaffold protein which in humans is encoded by the ''SCRIB'' gene. It was originally isolated in Drosophila melanogaster in a pathway (also known as the Scribble complex) with DLGAP5 (Discs large) and LLGL1 (Lethal giant larvae) as a tumor suppressor. In humans, SCRIB is found as a membrane protein and is involved in cell migration, cell polarity, and cell proliferation in epithelial cells. There is also strong evidence that SCRIB may play a role in cancer progression because of its strong homology to the Drosophila protein. Function In ''Drosophila melanogaster'', SCRIB is involved in synaptic function, neuroblast differentiation, and epithelial polarization. Mechanistically, the human homolog is a scaffold protein linked to cellular differentiation centered on the regulation of epithelial as well as neuronal morphogenesis. Deficiency in SCRIB impairs many aspects of cell polarity and cell moveme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDZ Domain
The PDZ domain is a common structural domain of 80-90 Amino acid, amino-acids found in the Signal transduction, signaling proteins of bacteria, yeast, plants, viruses and animals. Proteins containing PDZ domains play a key role in anchoring receptor proteins in the membrane to cytoskeletal components. Proteins with these domains help hold together and organize signaling complexes at cellular membranes. These domains play a key role in the formation and function of signal transduction complexes. PDZ domains also play a highly significant role in the anchoring of cell surface receptors (such as Cftr and FZD7) to the actin cytoskeleton via mediators like NHERF and ezrin. ''PDZ'' is an initialism combining the first letters of the first three proteins discovered to share the domain — DLG4, post synaptic density protein (PSD95), DLG1, Drosophila disc large tumor suppressor (Dlg1), and Tight junction protein 1, zonula occludens-1 protein (zo-1). PDZ domains have previously been referr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GIT2
ARF GTPase-activating protein GIT2 is an enzyme that in humans is encoded by the ''GIT2'' gene. Function This gene encodes a member of the GIT protein family. GIT proteins interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. This gene undergoes extensive alternative splicing; although ten transcript variants have been described, the full length sequence has been determined for only four variants. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. Interactions GIT2 has been shown to interact with GIT1 ARF GTPase-activating protein GIT1 is an enzyme that in humans is encoded by the ''GIT1'' gene. GIT1 contains an ARFGAP domain, Anykrin repeats, and a GRK-interacting domain. The Arf-GAP domain, which enables it to act as a GTPase activating pr .... References Further reading * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
