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CHCHD10

Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial, also known as Protein N27C7-4 is a protein that in humans is encoded by the CHCHD10 gene.

                                               

CHEK2

CHEK2 is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of c ...

                                               

CHKB (gene)

Choline kinase beta, also known as Ethanolamine kinase, Choline kinase-like protein, choline/ethanolamine kinase beta, or Choline/ethanolamine kinase is a protein encoded by the CHKB gene. This gene is found on chromosome 22 in humans. The encode ...

                                               

CLDN5

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the pa ...

                                               

CRKL

v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. CRKL has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR- ...

                                               

CRYBA4

Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene. Crystallins are divided into two classes: taxon-specific, or enzyme, and ubiquitous. The last class represents the main protein of eye lens of vertebrates and maintains ...

                                               

CRYBB1

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract. Crystallins are divided into two classes: taxon-specific, or enzyme, and ubiquitous. The ...

                                               

CRYBB2

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fibe ...

                                               

CRYBB3

Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene. Crystallins are divided into two classes: taxon-specific, or enzyme, and ubiquitous. The last class represents the main protein of eye lens of vertebrates and maintains ...

                                               

CSF2RB

CSF2RB is a common subunit to the following type I cytokine receptors: GM-CSF receptor. (ГМ-КСФ рецептор) IL-5 receptor. (Рецептор Ил-5) IL-3 receptor. (Ил-3 рецепторов)

                                               

CYB5R3

The CYB5R3 gene is located on the 22nd chromosome, with its specific location being 22q13.2. The gene contains 12 exons. CYB5R3 encodes a 34.2 kDa protein that is composed of 301 amino acids, 63 peptides have been observed through mass spectromet ...

                                               

CYTH4

Cytohesin-4 is a protein that in humans is encoded by the CYTH4 gene. This gene encodes a member of the cytohesin family CYTH, earlier known as data pleckstrin homology, Sec7 and coiled coil Domains of the family. The members of this family have ...

                                               

DDT (gene)

D-dopachrome decarboxylase is an enzyme that in humans is encoded by the DDT gene. D-dopachrome tautomerase converts D-dopachrome in the 5.6-dihydroxyindole. Gene DDT refers to macrophage migration inhibitory factor, MIF, in terms of sequence, en ...

                                               

DDX17

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp DEAD, are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclea ...

                                               

DEPDC5

DEPDC5 is a human protein of poorly understood function but has been associated with cancer in several studies. It is encoded by a gene of the same name, located on chromosome 22.

                                               

DGCR2

The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans. 22q11 deletions.2 were associated with a wide range of malformations of the group under the acronym catch 22. The DGCR2 gene encodes a novel putative adhesion recep ...

                                               

DGCR5

In molecular biology, DiGeorge syndrome critical region gene 5, also known as DGCR5, is a long non-coding RNA. In humans, it is located on chromosome 22q11, at the ADU breakpoint associated with DiGeorge syndrome. Its expression is regulated by t ...

                                               

DGCR6

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene. Syndrome Di Georgie, and more widely the catch 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Droso ...

                                               

DGCR14

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene. This gene located in the minimal DGS critical region of the MDGCR thought to contain genes responsible for a group of developmental disorders. These disorders include syndr ...

                                               

DMC1 (gene)

Meiotic recombination protein DMC1/LIM15 homolog is a protein that in humans is encoded by the DMC1 gene. Meiotic recombination protein Dmc1 is a homolog of the bacterial strand exchange protein ReCa. Dmc1 plays the Central role in homologous rec ...

                                               

ECGF1

TYMP is a gene that encodes for the enzyme thymidine phosphorylase. The TYMP gene is also known as ECGF1 and MNGIE due to its role in MNGIE syndrome.

                                               

EIF3D

Eukaryotic translation initiation factor-3 eIF3, the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a d ...

                                               

EIF3EIP

Eukaryotic translation initiation factor 3 subunit L, less commonly known as EIF3EIP, is a protein that in humans is encoded by the EIF3L gene.

                                               

EIF4ENIF1

Eukaryotic translation initiation factor 4E transporter is a protein that in humans is encoded by the EIF4ENIF1 gene. The protein encoded by this gene is a nucleocytoplasmic transport proteins for initiation of translation factor eIF4E. This Shut ...

                                               

FAM227a

FAM227A is a protein that in humans is encoded by FAM227A gene. Current studies have determined the location of this gene to be in the nuclear region of the cell. FAM227A is most highly expressed in the tissues of the fallopian tube, testis, and ...

                                               

FBLN1

Fibulin-1 is a secreted glycoprotein that is found in association with extracellular matrix structures including fibronectin-containing fibers, elastin-containing fibers and basement membranes. Fibulin-1 binds to a number of extracellular matrix ...

                                               

FBXO7

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs SKP1-cull ...

                                               

GAL3ST1

Galactosylceramide sulfotransferase is an enzyme that in humans is encoded by the GAL3ST1 gene. Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones and neurotransmitters, is catalyzed by sulfotransferases. The pr ...

                                               

Galectin-1

LGALS1 contains four exons. The galectin-1 protein is 135 amino acids in length and highly conserved across species. It can be found in the nucleus, the cytoplasm, the cell surface and in the extracellular space. Galectins in general lack a tradi ...

                                               

Galectin-2

Galectin-2 is a protein that in humans is encoded by the LGALS2 gene. The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to Lymphotoxin-alpha. Single-nucleotide ...

                                               

GAS2L1

GAS2-like protein 1 is a protein that in humans is encoded by the GAS2L1 gene. The protein encoded by this gene is a member of the GAS2 family, is similar in the sequence of the mouse protein Gas2, to the actin-associated protein expressed at hig ...

                                               

GCAT

The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-thr ...

                                               

GGA1

ADP-ribosylation factor-binding protein GGA1 is a protein that in humans is encoded by the GGA1 gene. This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding of GGA family proteins. The members of this family ...

                                               

GNAZ

The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systems. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphat ...

                                               

GNB1L

Guanine nucleotide-binding protein subunit beta-like protein 1 is a protein that in humans is encoded by the GNB1L gene. This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are ...

                                               

GP1BB

Glycoprotein Ib, beta polypeptide also known as CD42c, is a protein that in humans is encoded by the GP1BB gene.

                                               

GRAP2

GRB2-related adapter protein 2 also known as GRB2-related adaptor downstream of Shc is a 37 kDa protein that in humans is encoded by the GRAP2 gene.

                                               

GTPBP1

GTP-binding protein 1 is a protein that in humans is encoded by the GTPBP1 gene. This gene is activated by interferon-gamma and encodes a protein that is a member of the AGP11 / family GTP-binding protein GTPBP1. Structurally similar protein has ...

                                               

GTSE1

G2 and S phase-expressed protein 1 is an enzyme that in humans is encoded by the GTSE1 gene. The protein encoded by this gene, expressed only in S and G2 phases of the cell cycle, where it colocalizes with tubulin and microtubules in the cytoplas ...

                                               

H1F0

H1 histone family, member 0 is a member of the histone family of nuclear proteins which are a component of chromatin. In humans, this protein is encoded by the H1F0 gene.

                                               

HDAC10

Histone deacetylase 10 is an enzyme that in humans is encoded by the HDAC10 gene. Acetylation of histone core particles modulates chromatin structure and gene expression. The opposing enzymatic activities of histone acetyltransferase and histone ...

                                               

HIRA

The specific function of this protein has yet to be determined, however, it has been speculated to play a role in transcriptional regulation and/or chromatin and histone metabolism. A study conducted by salomé Adam, Sophie E. Polo and geneviève A ...

                                               

HMG-box containing 4

High mobility group HMG proteins are nonhistone chromosomal proteins. See HMG2 MIM 163906 for additional information on HMG proteins.

                                               

HMOX1

HMOX1 1) is a human gene that encodes for the enzyme heme oxygenase 1. Heme oxygenase mediates the first step of heme catabolism, it cleaves heme to form biliverdin. Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form bil ...

                                               

HPS4

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene. Syndrome Hermansky–Pudlak-a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis due to weaknesses in mela ...

                                               

IL2RB

The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit also called CD25 and is not involved i ...

                                               

Immunoglobulin lambda like polypeptide 5

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin va ...

                                               

Inositol oxygenase

Inositol oxygenase, also commonly referred to as myo- inositol oxygenase, is a non-heme di-iron enzyme that oxidizes myo -inositol to glucuronic acid. The enzyme employs a unique four-electron transfer at its Fe/Fe coordination sites and the reac ...

                                               

Intraflagellar transport 27

This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene result ...

                                               

KCNJ4

Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, ...

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