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Organelle membrane

Organelle membrane

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • ABCA4: ATP-binding cassette, sub-family A (ABC1), member 4
  • ABCB11: ATP-binding cassette, sub-family B (MDR/TAP), member 11
  • ABCB4: ATP-binding cassette, sub-family B (MDR/TAP), member 4
  • ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
  • AGPS: alkylglycerone phosphate synthase
  • ALAS2: aminolevulinate, delta-, synthase 2
  • APOB: apolipoprotein B
  • AQP2: aquaporin 2 (collecting duct)
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ATL1: atlastin GTPase 1
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
  • ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • BCS1L: BC1 (ubiquinol-cytochrome c reductase) synthesis-like
  • BRIP1: BRCA1 interacting protein C-terminal helicase 1
  • BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
  • CISD2: CDGSH iron sulfur domain 2
  • CLCN5: chloride channel, voltage-sensitive 5
  • CLCN7: chloride channel, voltage-sensitive 7
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • COL6A1: collagen, type VI, alpha 1
  • CP: ceruloplasmin (ferroxidase)
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • CPT2: carnitine palmitoyltransferase 2
  • CTNS: cystinosin, lysosomal cystine transporter
  • CYBA: cytochrome b-245, alpha polypeptide
  • CYBB: cytochrome b-245, beta polypeptide
  • CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
  • CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
  • CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
  • CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
  • DHCR7: 7-dehydrocholesterol reductase
  • DHODH: dihydroorotate dehydrogenase (quinone)
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC5: DnaJ (Hsp40) homolog, subfamily C, member 5
  • DNM2: dynamin 2
  • EBP: emopamil binding protein (sterol isomerase)
  • ELOVL4: ELOVL fatty acid elongase 4
  • EMD: emerin
  • ERBB2: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • EXT1: exostosin glycosyltransferase 1
  • EXT2: exostosin glycosyltransferase 2
  • FIG4: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
  • FMO3: flavin containing monooxygenase 3
  • FZD4: frizzled class receptor 4
  • G6PC: glucose-6-phosphatase, catalytic subunit
  • GAA: glucosidase, alpha; acid
  • GALNT3: polypeptide N-acetylgalactosaminyltransferase 3
  • GBA: glucosidase, beta, acid
  • GCH1: GTP cyclohydrolase 1
  • GDAP1: ganglioside induced differentiation associated protein 1
  • GHRHR: growth hormone releasing hormone receptor
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GJB1: gap junction protein, beta 1, 32kDa
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAS: GNAS complex locus
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • GNAT2: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
  • GNPAT: glyceronephosphate O-acyltransferase
  • GNPTAB: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • GPR143: G protein-coupled receptor 143
  • GRM6: glutamate receptor, metabotropic 6
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • HADHA: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
  • HADHB: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
  • HLA-B: major histocompatibility complex, class I, B
  • HLA-DPB1: major histocompatibility complex, class II, DP beta 1
  • HLA-DQA1: major histocompatibility complex, class II, DQ alpha 1
  • HLA-DQB1: major histocompatibility complex, class II, DQ beta 1
  • HLA-DRB1: major histocompatibility complex, class II, DR beta 1
  • HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
  • HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • HTT: huntingtin
  • IRAK4: interleukin-1 receptor-associated kinase 4
  • ITM2B: integral membrane protein 2B
  • JPH3: junctophilin 3
  • KIF1B: kinesin family member 1B
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LAMP2: lysosomal-associated membrane protein 2
  • LARGE: like-glycosyltransferase
  • LBR: lamin B receptor
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEMD3: LEM domain containing 3
  • LETM1: leucine zipper-EF-hand containing transmembrane protein 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LPIN2: lipin 2
  • LRP2: low density lipoprotein receptor-related protein 2
  • LRRK2: leucine-rich repeat kinase 2
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MATR3: matrin 3
  • MCOLN1: mucolipin 1
  • MFN2: mitofusin 2
  • MFSD8: major facilitator superfamily domain containing 8
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MT-ATP6: mitochondrially encoded ATP synthase 6
  • MT-ND1: mitochondrially encoded NADH dehydrogenase 1
  • MT-ND4: mitochondrially encoded NADH dehydrogenase 4
  • MT-ND4L: mitochondrially encoded NADH dehydrogenase 4L
  • MT-ND5: mitochondrially encoded NADH dehydrogenase 5
  • MT-ND6: mitochondrially encoded NADH dehydrogenase 6
  • MYO6: myosin VI
  • MYO7A: myosin VIIA
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • NCF4: neutrophil cytosolic factor 4, 40kDa
  • NCSTN: nicastrin
  • NDRG1: N-myc downstream regulated 1
  • NOTCH2: notch 2
  • NOTCH3: notch 3
  • NPC1: Niemann-Pick disease, type C1
  • NSDHL: NAD(P) dependent steroid dehydrogenase-like
  • OCA2: oculocutaneous albinism II
  • OPA1: optic atrophy 1 (autosomal dominant)
  • OPN1LW: opsin 1 (cone pigments), long-wave-sensitive
  • OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive
  • OPN1SW: opsin 1 (cone pigments), short-wave-sensitive
  • OTOF: otoferlin
  • PDE6B: phosphodiesterase 6B, cGMP-specific, rod, beta
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PEX1: peroxisomal biogenesis factor 1
  • PGAP2: post-GPI attachment to proteins 2
  • PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
  • PIGO: phosphatidylinositol glycan anchor biosynthesis, class O
  • PIGV: phosphatidylinositol glycan anchor biosynthesis, class V
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
  • PML: promyelocytic leukemia
  • PNPLA2: patatin-like phospholipase domain containing 2
  • POMT1: protein-O-mannosyltransferase 1
  • PPOX: protoporphyrinogen oxidase
  • PRICKLE1: prickle homolog 1 (Drosophila)
  • PRODH: proline dehydrogenase (oxidase) 1
  • PROS1: protein S (alpha)
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • RAB27A: RAB27A, member RAS oncogene family
  • RAB7A: RAB7A, member RAS oncogene family
  • RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
  • RET: ret proto-oncogene
  • RHO: rhodopsin
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SAR1B: secretion associated, Ras related GTPase 1B
  • SDHA: succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
  • SDHB: succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
  • SDHC: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
  • SDHD: succinate dehydrogenase complex, subunit D, integral membrane protein
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SLC17A5: solute carrier family 17 (acidic sugar transporter), member 5
  • SLC25A1: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
  • SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
  • SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
  • SMAD3: SMAD family member 3
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SPG11: spastic paraplegia 11 (autosomal recessive)
  • SPG20: spastic paraplegia 20 (Troyer syndrome)
  • SPINK5: serine peptidase inhibitor, Kazal type 5
  • SPTLC1: serine palmitoyltransferase, long chain base subunit 1
  • SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
  • SURF1: surfeit 1
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • TAZ: tafazzin
  • TBXAS1: thromboxane A synthase 1 (platelet)
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TH: tyrosine hydroxylase
  • TMPRSS3: transmembrane protease, serine 3
  • TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
  • TOR1A: torsin family 1, member A (torsin A)
  • TREX1: three prime repair exonuclease 1
  • TYRP1: tyrosinase-related protein 1
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WHSC1: Wolf-Hirschhorn syndrome candidate 1
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: April 7, 2014