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| Offical Name: | PTK2 protein tyrosine kinase 2 |
|---|---|
| Other Aliases: | FAK, FADK, FAK1, FRNK, pp125FAK |
| Organism: | Homo sapiens |
| Chromosome: | 8 |
| Other Designations: | PTK2 protein tyrosine kinase 2, focal adhesion kinase 1, FAK-related non-kinase polypeptide |
| Summary: | This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. At least four transcript variants encoding four different isoforms have been found for this gene, but the full-length natures of only two of them have been determined. [provided by RefSeq] |
| Location: | 8q24-qter |
| Offical Name: | v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) |
|---|---|
| Other Aliases: | ASV, SRC1, c-SRC, p60-Src |
| Organism: | Homo sapiens |
| Chromosome: | 20 |
| Other Designations: | proto-oncogene tyrosine-protein kinase SRC, OTTHUMP00000174476, OTTHUMP00000174477, tyrosine kinase pp60c-src, tyrosine-protein kinase SRC-1, protooncogene SRC, Rous sarcoma |
| Summary: | This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] |
| Location: | 20q12-q13 |
| Offical Name: | tumor protein p53 |
|---|---|
| Other Aliases: | p53, LFS1, TRP53, FLJ92943 |
| Organism: | Homo sapiens |
| Chromosome: | 17 |
| Other Designations: | tumor protein p53, p53 antigen, phosphoprotein p53, p53 tumor suppressor, p53 transformation suppressor, transformation-related protein 53 |
| Summary: | This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of this gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. Multiple p53 variants due to alternative promoters and multiple alternative splicing have been found. These variants encode distinct isoforms, which can regulate p53 transcriptional activity. [provided by RefSeq] |
| Location: | 17p13.1 |
| Offical Name: | integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) |
|---|---|
| Other Aliases: | CD29, FNRB, MDF2, VLAB, GPIIA, MSK12, VLA-BETA |
| Organism: | Homo sapiens |
| Chromosome: | 10 |
| Other Designations: | integrin beta 1, integrin VLA-4 beta subunit, fibronectin receptor beta subunit |
| Summary: | Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq] |
| Location: | 10p11.2 |
| Offical Name: | caspase 8, apoptosis-related cysteine peptidase |
|---|---|
| Other Aliases: | CAP4, MACH, MCH5, FLICE, ALPS2B, Casp-8, FLJ17672, MGC78473 |
| Organism: | Homo sapiens |
| Chromosome: | 2 |
| Other Designations: | caspase 8, OTTHUMP00000163720, MACH-alpha-1/2/3 protein, MACH-beta-1/2/3/4 protein, FADD-homologous ICE/CED-3-like protease, caspase 8, apoptosis-related cysteine protease |
| Summary: | This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq] |
| Location: | 2q33-q34 |
| Offical Name: | v-akt murine thymoma viral oncogene homolog 1 |
|---|---|
| Other Aliases: | AKT, PKB, RAC, PRKBA, MGC99656, PKB-ALPHA, RAC-ALPHA |
| Organism: | Homo sapiens |
| Chromosome: | 14 |
| Other Designations: | AKT1 kinase, protein kinase B, rac protein kinase alpha, RAC-alpha serine/threonine-protein kinase |
| Summary: | The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] |
| Location: | 14q32.32 |
| Offical Name: | PTK2 protein tyrosine kinase 2 |
|---|---|
| Other Aliases: | FAK, FRNK, Fadk, KIAA4203, mKIAA4203 |
| Organism: | Mus musculus |
| Chromosome: | 15 |
| Other Designations: | PTK2 protein tyrosine kinase 2, focal adhesion kinase |
| Location: | 15 D3 |
| Offical Name: | fibronectin 1 |
|---|---|
| Other Aliases: | FN, CIG, FNZ, MSF, ED-B, FINC, GFND, LETS, GFND2, DKFZp686H0342, DKFZp686I1370, DKFZp686F10164, DKFZp686O13149 |
| Organism: | Homo sapiens |
| Chromosome: | 2 |
| Other Designations: | fibronectin 1, OTTHUMP00000206762, OTTHUMP00000206767, cold-insoluble globulin, migration-stimulating factor |
| Summary: | This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. [provided by RefSeq] |
| Location: | 2q34 |
| Offical Name: | neurotrophic tyrosine kinase, receptor, type 2 |
|---|---|
| Other Aliases: | TRKB, GP145-TrkB |
| Organism: | Homo sapiens |
| Chromosome: | 9 |
| Other Designations: | neurotrophic tyrosine kinase, receptor, type 2, OTTHUMP00000021573, OTTHUMP00000021574, OTTHUMP00000021576, OTTHUMP00000021577, tyrosine kinase receptor B, BDNF/NT-3 growth factors receptor |
| Summary: | This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
| Location: | 9q22.1 |
| Offical Name: | cathepsin G |
|---|---|
| Organism: | Rattus norvegicus |
| Chromosome: | 15 |
| Other Designations: | cathepsin G |
| Location: | 15p12 |
| Offical Name: | BCL2-like 11 (apoptosis facilitator) |
|---|---|
| Other Aliases: | BAM, BIM, BOD, BimL, BimEL, BIM-beta6, BIM-beta7, BIM-alpha6 |
| Organism: | Homo sapiens |
| Chromosome: | 2 |
| Other Designations: | BCL2-like 11, OTTHUMP00000197013, bcl-2 interacting protein Bim, bcl-2-related ovarian death agonist, bcl-2 interacting mediator of cell death |
| Summary: | The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family, including BCL2, BCL2L1/BCL-X(L), and MCL1, and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq] |
| Location: | 2q13 |
| Offical Name: | neurotrophic tyrosine kinase, receptor, type 2 |
|---|---|
| Other Aliases: | Tkrb, trkB, AI848316, C030027L06Rik |
| Organism: | Mus musculus |
| Chromosome: | 13 |
| Other Designations: | neurotrophic tyrosine kinase, receptor, type 2 |
| Location: | 13 B1-B2 |
| Offical Name: | cadherin 1 |
|---|---|
| Other Aliases: | Um, UVO, Ecad, L-CAM, AA960649, MGC107495 |
| Organism: | Mus musculus |
| Chromosome: | 8 |
| Other Designations: | cadherin 1, E-cadherin, uvomorulin, OTTMUSP00000022465 |
| Location: | 8 D |
| Offical Name: | Rous sarcoma oncogene |
|---|---|
| Other Aliases: | AW259666, pp60c-src |
| Organism: | Mus musculus |
| Chromosome: | 2 |
| Other Designations: | Rous sarcoma oncogene, OTTMUSP00000017316, OTTMUSP00000019027, OTTMUSP00000019028, OTTMUSP00000019029 |
| Location: | 2 H1 |
| Offical Name: | signal transducer and activator of transcription 3 (acute-phase response factor) |
|---|---|
| Other Aliases: | APRF, HIES, FLJ20882, MGC16063 |
| Organism: | Homo sapiens |
| Chromosome: | 17 |
| Other Designations: | signal transducer and activator of transcription 3, DNA-binding protein APRF, acute-phase response factor |
| Summary: | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] |
| Location: | 17q21.31 |
| Offical Name: | BCL2-like 11 (apoptosis facilitator) |
|---|---|
| Other Aliases: | Bim, Bod, 1500006F24Rik |
| Organism: | Mus musculus |
| Chromosome: | 2 |
| Other Designations: | BCL2-like 11 apoptosis facilitator, OTTMUSP00000016362, OTTMUSP00000016364, OTTMUSP00000016365, Bcl2 interacting mediator of cell death |
| Location: | 2 F3-G1 |
| Offical Name: | BCL2-associated X protein |
|---|---|
| Organism: | Mus musculus |
| Chromosome: | 7 |
| Other Designations: | Bcl2-associated X protein |
| Location: | 7 B5 |
| Offical Name: | v-raf murine sarcoma viral oncogene homolog B1 |
|---|---|
| Other Aliases: | BRAF1, RAFB1, B-RAF1, FLJ95109, MGC126806, MGC138284 |
| Organism: | Homo sapiens |
| Chromosome: | 7 |
| Other Designations: | B-Raf, 94 kDa B-raf protein, murine sarcoma viral (v-raf) oncogene homolog B1, B-Raf proto-oncogene serine/threonine-protein kinase (p94) |
| Summary: | This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq] |
| Location: | 7q34 |
| Offical Name: | B-cell CLL/lymphoma 2 |
|---|---|
| Other Aliases: | Bcl-2 |
| Organism: | Homo sapiens |
| Chromosome: | 18 |
| Other Designations: | B-cell lymphoma protein 2, OTTHUMP00000163680 |
| Summary: | This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq] |
| Location: | 18q21.33 |
| Offical Name: | BCL2-associated X protein |
|---|---|
| Other Aliases: | BCL2L4 |
| Organism: | Homo sapiens |
| Chromosome: | 19 |
| Other Designations: | BCL2-associated X protein, apoptosis regulator BAX |
| Summary: | The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq] |
| Location: | 19q13.3-q13.4 |