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| PKD2 | Polycystin-2; Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum. Together with TRPV4, forms mechano- and thermosensitive channels in cilium. PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. Acts as a regulator of cilium length, to [...] (968 aa) | |||
| ALG5 | ALG5, dolichyl-phosphate beta-glucosyltransferase; Glycosyltransferase family 2 (324 aa) | |||
| CANX | Calnexin; Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor- mediated endocytosis at [...] (592 aa) | |||
| YEATS4 | YEATS domain-containing protein 4; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and repl [...] (227 aa) | |||
| MLLT1 | Protein ENL; Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (559 aa) | |||
| GATB | Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu- tRNA(Gln) (557 aa) | |||
| ALG10 | Dol-P-Glc-Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol; Belongs to the ALG10 glucosyltransferase family (473 aa) | |||
| YEATS2 | YEATS domain-containing protein 2; Chromatin reader component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. YEATS2 specifically recognizes and binds histone H3 crotonylated at ’Lys-27’ (H3K27cr). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (1422 aa) | |||
| ALG10B | Putative Dol-P-Glc-Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. Has a role in maintenance of cochlear outer hair cell function (By similarity); [...] (473 aa) | |||
| DNAJA2 | DnaJ homolog subfamily A member 2; Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro); DNAJ heat shock proteins (412 aa) | |||
| CLGN | Calmegin; Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity) (610 aa) | |||
| ALG12 | Dol-P-Man-Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP- Man(7)GlcNAc(2)) required for protein glycosylation; Belongs to the glycosyltransferase 22 family (488 aa) | |||
| SEL1L | Protein sel-1 homolog 1; Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling (794 aa) | |||
| MAGT1 | Magnesium transporter protein 1; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulf [...] (367 aa) | |||
| ALG6 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol; Alpha-1,3-glucosyltransferases (507 aa) | |||
| SEL1L2 | Protein sel-1 homolog 2; SEL1L2 ERAD E3 ligase adaptor subunit; Belongs to the sel-1 family (575 aa) | |||
| DNAJA1 | DnaJ homolog subfamily A member 1; Co-chaperone for HSPA8/Hsc70. Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro). Plays a role in protein transport into mitochondria via its role as co- chaperone. Functions as co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis. Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV; DNAJ heat shock proteins (397 aa) | |||
| MLLT3 | Protein AF-9; Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. Recognizes and binds histone H3 crotonylated at ’Lys-9’ (H3K9cr), and with slightly lower affinity histone H3 crotonylate [...] (568 aa) | |||
| DNAJA4 | DnaJ heat shock protein family member A4 (426 aa) | |||
| ALG3 | Dol-P-Man-Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol; Dolichyl D-mannosyl phosphate dependent mannosyltransferases (438 aa) | |||
| EARS2 | Probable glutamate--tRNA ligase, mitochondrial; Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction- glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu); Aminoacyl tRNA synthetases, Class I (523 aa) | |||
| DDOST | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation; Glutamine amidotransferase like class 1 domain containing (456 aa) | |||
| TUSC3 | Tumor suppressor candidate 3; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfide [...] (348 aa) | |||
| RER1 | Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment (196 aa) | |||
| ENSG00000086848 | Alpha-1,2-mannosyltransferase ALG9; Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; Belongs to the glycosyltransferase 22 family (844 aa) | |||
| DIBD1 | Mannosyltransferase; Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; Belongs to the glycosyltransferase 22 family (618 aa) | |||
