Fine module 238 - -


Module's content:

Genes:

SYMBOLTITLEMINMAXNCBI human gene summary
2900026A02RIKRIKEN cDNA 2900026A02 gene6.189.55NCBI mm gene  
ARHGEF5Rho guanine nucleotide exchange factor (GEF) 55.527.82NCBI mm gene  
ARMCX3armadillo repeat containing, X-linked 36.549.96NCBI mm gene  Summary: This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq].
CCDC86coiled-coil domain containing 866.009.19NCBI mm gene  
CYP20A1cytochrome P450, family 20, subfamily A, polypeptide 15.378.90NCBI mm gene  Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq].
DPAGT1dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)5.579.43NCBI mm gene  Summary: The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq].
EIF2B2eukaryotic translation initiation factor 2B, subunit 2 beta7.4410.61NCBI mm gene  Summary: Eukaryotic initiation factor-2B (EIF2B) is a GTP exchange protein essential for protein synthesis. It consists of alpha (EIF2B1; MIM 606686), beta (EIF2B2), gamma (EIF2B3; MIM 606273), delta (EIF2B4; MIM 606687), and epsilon (EIF2B5; MIM 603945) subunits. EIF2B activates its EIF2 (see MIM 603907) substrate by exchanging EIF2-bound GDP for GTP.[supplied by OMIM].
ENDOD1endonuclease domain containing 15.309.23NCBI mm gene  
ENPP5ectonucleotide pyrophosphatase/phosphodiesterase 54.829.04NCBI mm gene  
FBXW8F-box and WD-40 domain protein 86.289.37NCBI mm gene  
HSD17B12hydroxysteroid (17-beta) dehydrogenase 125.729.78NCBI mm gene  
LAP3leucine aminopeptidase 35.5610.27NCBI mm gene  
LMAN1lectin, mannose-binding, 14.8510.47NCBI mm gene  Summary: The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq].
LRRC59leucine rich repeat containing 597.9210.84NCBI mm gene  
P4HBprolyl 4-hydroxylase, beta polypeptide8.1511.92NCBI mm gene  
PDIA6protein disulfide isomerase associated 67.0711.28NCBI mm gene  
PLEKHA8pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 85.217.15NCBI mm gene  
PLSCR1phospholipid scramblase 16.2510.31NCBI mm gene  
SCLYselenocysteine lyase6.639.67NCBI mm gene  
SIGMAR1sigma non-opioid intracellular receptor 16.0310.12NCBI mm gene  
TJP2tight junction protein 26.3311.15NCBI mm gene  Summary: This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutation in this gene have been identified in patients with hypercholanemia. Alternate splicing results in multiple transcript variants.
TMED10transmembrane emp24-like trafficking protein 10 (yeast)8.3810.99NCBI mm gene