Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene. [5] [6] [7]
Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene. [5] [6] [7]
This gene is a homolog of the Drosophila diaphanous gene and belongs to the protein family of the formins, characterized by the formin homology 2 (FH2) domain. It has been linked to autosomal dominant, fully penetrant, nonsyndromic low-frequency progressive sensorineural hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [7]
Mutations in this gene have been associated with macrothrombocytopenia and hearing loss, [9] microcephaly, blindness, and early onset seizures [10]
Its actions on platelet formation appear to occur at the level of the megakaryocyte where it is involved in cytoskeleton formation. [11]
Formins are a group of proteins that are involved in the polymerization of actin and associate with the fast-growing end of actin filaments. Most formins are Rho-GTPase effector proteins. Formins regulate the actin and microtubule cytoskeleton and are involved in various cellular functions such as cell polarity, cytokinesis, cell migration and SRF transcriptional activity. Formins are multidomain proteins that interact with diverse signalling molecules and cytoskeletal proteins, although some formins have been assigned functions within the nucleus.
Transforming protein RhoA, also known as Ras homolog family member A (RhoA), is a small GTPase protein in the Rho family of GTPases that in humans is encoded by the RHOA gene. While the effects of RhoA activity are not all well known, it is primarily associated with cytoskeleton regulation, mostly actin stress fibers formation and actomyosin contractility. It acts upon several effectors. Among them, ROCK1 and DIAPH1 are the best described. RhoA, and the other Rho GTPases, are part of a larger family of related proteins known as the Ras superfamily, a family of proteins involved in the regulation and timing of cell division. RhoA is one of the oldest Rho GTPases, with homologues present in the genomes since 1.5 billion years. As a consequence, RhoA is somehow involved in many cellular processes which emerged throughout evolution. RhoA specifically is regarded as a prominent regulatory factor in other functions such as the regulation of cytoskeletal dynamics, transcription, cell cycle progression and cell transformation.
Rac GTPase-activating protein 1 is an enzyme that in humans is encoded by the RACGAP1 gene.
Profilin-1 is a protein that in humans is encoded by the PFN1 gene.
Neural Wiskott-Aldrich syndrome protein is a protein that in humans is encoded by the WASL gene.
Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.
RhoC is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOC.
Protein enabled homolog is a protein that in humans is encoded by the ENAH gene.
Formin-binding protein 1 is a protein that in humans is encoded by the FNBP1 gene.
Profilin-2 is a protein that in humans is encoded by the PFN2 gene.
FH1/FH2 domain-containing protein 1 is a protein that in humans is encoded by the FHOD1 gene.
Large tumor suppressor kinase 1 (LATS1) is an enzyme that in humans is encoded by the LATS1 gene.
For the SSH-1 protocol, see Secure Shell#Version 1.x
Rnd1 is a small signaling G protein, and is a member of the Rnd subgroup of the Rho family of GTPases. It is encoded by the gene RND1.
Anillin is a conserved protein implicated in cytoskeletal dynamics during cellularization and cytokinesis. The ANLN gene in humans and the scraps gene in Drosophila encode Anillin. In 1989, anillin was first isolated in embryos of Drosophila melanogaster. It was identified as an F-actin binding protein. Six years later, the anillin gene was cloned from cDNA originating from a Drosophila ovary. Staining with anti-anillin antibody showed the anillin localizes to the nucleus during interphase and to the contractile ring during cytokinesis. These observations agree with further research that found anillin in high concentrations near the cleavage furrow coinciding with RhoA, a key regulator of contractile ring formation.
Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.
RhoD is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOD.
NCK-interacting protein with SH3 domain is a protein that in humans is encoded by the NCKIPSD gene.
Protein phosphatase Slingshot homolog 2 is an enzyme that in humans is encoded by the SSH2 gene.
mDia1 is a member of the protein family called the formins and is a Rho effector. It is the mouse version of the diaphanous homolog 1 of Drosophila. mDia1 localizes to cells' mitotic spindle and midbody, plays a role in stress fiber and filopodia formation, phagocytosis, activation of serum response factor, formation of adherens junctions, and it can act as a transcription factor. mDia1 accelerates actin nucleation and elongation by interacting with barbed ends of actin filaments. The gene encoding mDia1 is located on Chromosome 18 of Mus musculus and named Diap1.
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