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ATP5O

ATP synthase subunit O, mitochondrial is an enzyme that in humans is encoded by the ATP5PO gene. The protein encoded by this gene is a component of F-type ATPase found in the mitochondrial matrix. The F-type ATPase consists of a catalytic core an ...

B3GALT5

Beta-1.3-galactosyltransferase 5 is an enzyme that in humans is encoded by the B3GALT5 gene. This gene is a member of the beta-1.3-galactosyltransferase gene beta3GalT family. Family, encodes a second type of membrane-bound glycoproteins with dif ...

Bromodomain and WD repeat-containing protein 1

Bromodomain and WD repeat-containing protein 1 also known as WD repeat-containing protein 9 is a protein that in humans is encoded by the BRWD1 gene.

BTG3

Protein BTG3 is a protein that in humans is encoded by the BTG3 gene. The protein encoded by this gene is a member of the BTG / TOB family. This family consists of structurally related proteins that appear to have antiproliferative properties. Th ...

C21orf58

The gene is located on the minus strand of the distal half of the long arm of Chromosome 21 at 21q22.3. Transcript 1, including UTRs, is 22.740 bp and spans the chromosomal locus 46.301.130-46.323.875.

C21orf62

C21orf62 is a protein that, in humans, is encoded by the C21orf62 gene. C21orf62 is found on human chromosome 21, and it is thought to be expressed in tissues of the brain and reproductive organs. Additionally, C21orf62 is highly expressed in ova ...

CBR3

Carbonyl reductase 3 is an enzyme that in humans is encoded by the CBR3 gene. Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to the corresponding alcohols. The enzyme ...

CHAF1B

Chromatin assembly factor I CAF-1 is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is ...

CHODL

Chondrolectin is a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearin ...

CLDN14

Claudin-14 is a protein that in humans is encoded by the CLDN14 gene. It belongs to a related family of proteins called claudins. The protein encoded by the CLDN14 is an integral membrane protein and component of tight junctions, one type of cell ...

CLDN17

Claudin-17 is a protein that in humans is encoded by the CLDN17 gene. It belongs to the group of claudins. It forms anion-selective paracellular channels and is localized mainly in kidney proximal tubules.

Collagen, type VI, alpha 1

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major ...

Collagen, type VI, alpha 2

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains hav ...

Collagen, type XVIII, alpha 1

Collagen alpha-1 chain is a protein that in humans is encoded by the COL18A1 gene. This gene encodes the alpha chain of collagen type XVIII century. Collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple h ...

CRYZL1

Quinone oxidoreductase-like protein 1 is an enzyme that in humans is encoded by the CRYZL1 gene. This gene encodes a protein that has a sequence similarity of Zeta crystallin, also known as quinone oxidoreductase. This is Zeta-crystallin protein ...

Cystathionine beta synthase

Cystathionine-β-synthase, also known as CBS, is an enzyme that in humans is encoded by the CBS gene. It catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine: L-serine + L-homocysteine ⇌ {\displaystyle \righ ...

Cystatin B

Cystatin-B is a protein that in humans is encoded by the CSTB gene. CSTB redirects here. It can also refer to the Trade Union Confederation of Bolivian Workers. In cystatin superfamily encompasses proteins that contain multiple cystatin-like sequ ...

CYYR1

Cysteine and tyrosine-rich protein 1 is a protein that in humans is encoded by the CYYR1 gene and is located on chromosome 21, location 21q21.2. This protein has a function that is not presently understood.

DIP2A

Model organisms have been used in the study of DIP2A function. A conditional knockout mouse line called Dip2a tm2bKOMPWtsi was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to ...

DNMT3L

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes ...

DOPEY2

DOPEY2 is a human gene located just above the Down Syndrome chromosomal region located at 21p22.2 sub-band. Although the exact function of this gene is not yet fully understood, it has been proven to play a role in multiple biological processes, ...

DSCR1

Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the DSCR1 gene. RCAN1 is a gene that in humans is encoded by DSCR1 protein.

DYRK1A

Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the DYRK1A gene. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5 UTR or in t ...

Enteropeptidase

Enteropeptidase is an enzyme produced by cells of the duodenum and is involved in digestion in humans and other animals. Enteropeptidase converts trypsinogen into its active form trypsin, resulting in the subsequent activation of pancreatic diges ...

Folate transporter 1

Transport of folate compounds into mammalian cells can occur via receptor-mediated see folate receptor 1 or carrier-mediated mechanisms. A functional coordination between these 2 mechanisms has been proposed to be the method of folate uptake in c ...

Formimidoyltransferase cyclodeaminase

Formimidoyltransferase cyclodeaminase or formiminotransferase cyclodeaminase is an enzyme that catalyzes the conversion of formiminoglutamate and tetrahydrofolate into formiminotetrahydrofolate and glutamate.

GDP-fucose protein O-fucosyltransferase 2

GDP-fucose protein O -fucosyltransferase 2 is an enzyme responsible for adding fucose sugars in O linkage to serine or threonine residues in Thrombospondin repeats. The protein is an inverting glycosyltransferase, which means that the enzyme uses ...

Glucose-6-phosphate exchanger SLC37A1

Glucose-6-phosphate exchanger SLC37A1 is a protein that in humans is encoded by the SLC37A1 gene. SLC37A1 locates to the membrane of the endoplasmic reticulum, and is a glucose 6-phosphate:inorganic phosphate antiporter, transporting glucose 6-ph ...

GRIK1

This gene encodes one of the many ionotropic glutamate receptor GluR subunits that function as a ligand-gated ion channel. The specific GluR subunit encoded by this gene is of the kainate receptor subtype. Receptor assembly and intracellular traf ...

Holocarboxylase synthetase

HLCS) ligase) is a human gene that provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. In many of t ...

IFNAR1

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate seve ...

IFNAR2

Integrin beta 2

In molecular biology, CD18 is an integrin beta chain protein that is encoded by the ITGB2 gene in humans. Upon binding with one of a number of alpha chains, CD18 is capable of forming multiple heterodimers, which play significant roles in cellula ...

Interferon gamma receptor 2

This gene IFNGR2 encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a multimer of two IFN-γR1 chains encoded by IFNGR1 and two IFN-γR2 chains.

Interferon-alpha/beta receptor

The interferon-α/β receptor is a virtually ubiquitous membrane receptor which binds endogenous type I interferon cytokines. Endogenous human type I IFNs include many subtypes, such as interferons-α, -β, -ε, -κ, -ω, and -ζ.

Intersectin 1

The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated ...

KCNE1

Potassium voltage-gated channel subfamily E member 1 is a protein that in humans is encoded by the KCNE1 gene. Voltage-gated potassium kV channels represent the most complex class of voltage-gated ion channels as functional and structural standpo ...

Lanosterol synthase

Lanosterol synthase is an oxidosqualene cyclase enzyme that converts -2.3-oxidosqualene to a protosterol cation and finally to lanosterol. Lanosterol is a key four-ringed intermediate in cholesterol biosynthesis. In humans, lanosterol synthase is ...

MCM3AP

The minichromosome maintenance protein 3 MCM3 is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is an MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase a ...

MORC3

MORC family CW-type zinc finger protein 3 is a protein that in humans is encoded by the MORC3 gene. This gene encodes a protein that is localized in the nuclear matrix. This protein also has RNA-binding activity, and predicted coiled coil domain.

MX2

For the aircraft and other subjects see MX2 Interferon-induced GTP-binding protein MX2 is a protein that in humans is encoded by a gene MX2. The protein encoded by this gene is a nuclear and a cytoplasmic form and is a member of the family and be ...

N6AMT1

The N6AMT1 gene encodes an N6-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite mono ...

PAXBP1

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene. Similarity to transcription repressor of genes suggests that this protein is involved in the regulation of transcription. Alternative splicing ...

PCNT

Pericentrin, also known as PCNT and pericentrin-B, is a protein which in humans is encoded by the PCNT gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix to ensure proper centrosome ...

PCP4

Purkinje cell protein 4 is a protein that in humans is encoded by the PCP4 gene. Also known as PEP-19, PCP4 is a 7.6 kDa protein with an IQ-motif that binds to calmodulin. PCP4 is abundant in Purkinje cells of the cerebellum, and plays an importa ...

PDE9A

High affinity cGMP-specific 3.5-cyclic phosphodiesterase 9A is an enzyme that in humans is encoded by the PDE9A gene. The protein encoded by this gene catalyzes the hydrolysis of camp and cGMP to the corresponding monophosphate. The encoded prote ...

PDXK

Pyridoxal kinase is an enzyme that in humans is encoded by the PDXK gene. The protein encoded by this gene fosfauriliruet vitamin B 6, with a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in interm ...

PFKL

6-phosphofructokinase, liver type is an enzyme that in humans is encoded by the PFKL gene on chromosome 21. This gene encodes the liver subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1.6-bisphosphate, w ...

PIGP

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the PIGP gene. This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol GPI-anchor biosynthesis. The GPI anc ...

Pr/set domain 15

PR/SET domain 15 is a protein that in humans is encoded by the PRDM15 gene. Guarantees PRDM15 naive pluripotency transcription via regulating Wnt and mark-Erk signaling. PRDM15 modulates Wnt and mark-Erk signaling by directly promoting the expres ...

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PTTG1IP

RIPK4

RRP1

SAM domain, SH3 domain and nuclear lo ..

U2 small nuclear RNA auxiliary factor 1

3-mercaptopyruvate sulfurtransferase

ACO2

Adenylosuccinate lyase

Bcl-2-interacting killer

BCR (gene)

CABIN1

CARD10

Casein kinase 1 isoform epsilon

Catechol-O-methyltransferase

CBY1

CDC42EP1

CDC45-related protein

Immunoglobulin lambda like polypeptide 5

Inositol oxygenase

Intraflagellar transport 27

KCNJ4

page 316

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Translation

dip2a exchanger DIPA CBR cystatin b formimidoyltransferase cyclodeaminase O - fucosyltransferase CHAFB ATPO Formimidoyltransferase cyclodeaminase mcm3ap Interferon transporter paxbp1 CHODL BTG cldn14 pigp Formimidoyltransferase KCNE CYYR cystathionine beta synthase Prset domain glucose-6-phosphate exchanger slc37a1 c21orf62 DYRKA GDP - fucose protein O - fucosyltransferase collagen, type vi, alpha 2 Lanosterol Glucose - - phosphate exchanger SLCA

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