Intracellular membrane-bounded organelle

Intracellular membrane-bounded organelle

• AASS: aminoadipate-semialdehyde synthase
• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
• ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
• ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
• ACADS: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain
• ACADSB: acyl-Coenzyme A dehydrogenase, short/branched chain
• ACADVL: acyl-coenzyme A dehydrogenase, very long chain
• ACAT1: acetyl-Coenzyme A acetyltransferase 1
• ADA: adenosine deaminase
• AGA: aspartylglucosaminidase
• AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
• AGXT: alanine-glyoxylate aminotransferase
• AIRE: autoimmune regulator
• ALAS2: aminolevulinate, delta-, synthase 2
• ALDH4A1: aldehyde dehydrogenase 4 family, member A1
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• ALX4: ALX homeobox 4
• AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
• AMT: aminomethyltransferase
• ANG: angiogenin, ribonuclease, RNase A family, 5
• APC: adenomatous polyposis coli
• APOB: apolipoprotein B (including Ag(x) antigen)
• APP: amyloid beta (A4) precursor protein
• APTX: aprataxin
• AR: androgen receptor
• ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
• ARSA: arylsulfatase A
• ATG16L1: ATG16 autophagy related 16-like 1 (S. cerevisiae)
• ATM: ataxia telangiectasia mutated
• ATN1: atrophin 1
• ATP1A3: ATPase, Na+/K+ transporting, alpha 3 polypeptide
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide
• ATP7B: ATPase, Cu++ transporting, beta polypeptide
• ATRX: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
• AUH: AU RNA binding protein/enoyl-Coenzyme A hydratase
• BARD1: BRCA1 associated RING domain 1
• BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide
• BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide
• BCOR: BCL6 co-repressor
• BLM: Bloom syndrome, RecQ helicase-like
• BRAF: v-raf murine sarcoma viral oncogene homolog B1
• BRCA1: breast cancer 1, early onset
• BRCA2: breast cancer 2, early onset
• BRIP1: BRCA1 interacting protein C-terminal helicase 1
• BSCL2: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
• CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
• CBS: cystathionine-beta-synthase
• CDH1: cadherin 1, type 1, E-cadherin (epithelial)
• CDKL5: cyclin-dependent kinase-like 5
• CHEK2: CHK2 checkpoint homolog (S. pombe)
• CHM: choroideremia (Rab escort protein 1)
• CLDN14: claudin 14
• CLN3: ceroid-lipofuscinosis, neuronal 3
• COMT: catechol-O-methyltransferase
• CPOX: coproporphyrinogen oxidase
• CPS1: carbamoyl-phosphate synthetase 1, mitochondrial
• CPT1A: carnitine palmitoyltransferase 1A (liver)
• CPT2: carnitine palmitoyltransferase 2
• CREBBP: CREB binding protein
• CTNS: cystinosis, nephropathic
• CTSA: cathepsin A
• CUL7: cullin 7
• CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
• D2HGDH: D-2-hydroxyglutarate dehydrogenase
• DBT: dihydrolipoamide branched chain transacylase E2
• DCN: decorin
• DHCR7: 7-dehydrocholesterol reductase
• DLD: dihydrolipoamide dehydrogenase
• DMD: dystrophin
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
• EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
• EMD: emerin
• EP300: E1A binding protein p300
• ERAP1: endoplasmic reticulum aminopeptidase 1
• ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
• ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
• ETFA: electron-transfer-flavoprotein, alpha polypeptide
• ETFB: electron-transfer-flavoprotein, beta polypeptide
• ETFDH: electron-transferring-flavoprotein dehydrogenase
• EXT1: exostoses (multiple) 1
• EYA1: eyes absent homolog 1 (Drosophila)
• F5: coagulation factor V (proaccelerin, labile factor)
• F8: coagulation factor VIII, procoagulant component
• F9: coagulation factor IX
• FECH: ferrochelatase (protoporphyria)
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FH: fumarate hydratase
• FLNA: filamin A, alpha
• FMR1: fragile X mental retardation 1
• FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
• FOXL2: forkhead box L2
• FOXP3: forkhead box P3
• FRMD7: FERM domain containing 7
• FXN: frataxin
• G6PD: glucose-6-phosphate dehydrogenase
• GALC: galactosylceramidase
• GALE: UDP-galactose-4-epimerase
• GALK1: galactokinase 1
• GCDH: glutaryl-Coenzyme A dehydrogenase
• GCH1: GTP cyclohydrolase 1
• GJA1: gap junction protein, alpha 1, 43kDa
• GJB1: gap junction protein, beta 1, 32kDa
• GJB2: gap junction protein, beta 2, 26kDa
• GLA: galactosidase, alpha
• GLI3: GLI family zinc finger 3
• GM2A: GM2 ganglioside activator
• GNAS: GNAS complex locus
• GNPTG: N-acetylglucosamine-1-phosphate transferase, gamma subunit
• GPC3: glypican 3
• GTF2IRD1: GTF2I repeat domain containing 1
• HADH: hydroxyacyl-Coenzyme A dehydrogenase
• HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
• HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
• HCCS: holocytochrome c synthase (cytochrome c heme-lyase)
• HMBS: hydroxymethylbilane synthase
• HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
• HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
• HTT: huntingtin
• IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
• IVD: isovaleryl Coenzyme A dehydrogenase
• JPH3: junctophilin 3
• KCNE1: potassium voltage-gated channel, Isk-related family, member 1
• KCNE2: potassium voltage-gated channel, Isk-related family, member 2
• KIF1B: kinesin family member 1B
• KRT14: keratin 14
• KRT17: keratin 17
• L2HGDH: L-2-hydroxyglutarate dehydrogenase
• LDLR: low density lipoprotein receptor
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• LETM1: leucine zipper-EF-hand containing transmembrane protein 1
• LIPA: lipase A, lysosomal acid, cholesterol esterase
• LITAF: lipopolysaccharide-induced TNF factor
• LMNA: lamin A/C
• LMX1B: LIM homeobox transcription factor 1, beta
• LRP2: low density lipoprotein-related protein 2
• LRRK2: leucine-rich repeat kinase 2
• MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
• MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
• MECP2: methyl CpG binding protein 2 (Rett syndrome)
• MED12: mediator complex subunit 12
• MEFV: Mediterranean fever
• MEN1: multiple endocrine neoplasia I
• MFN2: mitofusin 2
• MITF: microphthalmia-associated transcription factor
• MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
• MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
• MLYCD: malonyl-CoA decarboxylase
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSH6: mutS homolog 6 (E. coli)
• MT-ATP6: mitochondrially encoded ATP synthase 6
• MTMR2: myotubularin related protein 2
• 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
• MUT: methylmalonyl Coenzyme A mutase
• MUTYH: mutY homolog (E. coli)
• MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
• MYH7: myosin, heavy chain 7, cardiac muscle, beta
• MYO6: myosin VI
• MYO7A: myosin VIIA
• NAGS: N-acetylglutamate synthase
• NBN: nibrin
• NDP: Norrie disease (pseudoglioma)
• NF1: neurofibromin 1
• NF2: neurofibromin 2 (merlin)
• NOD2: nucleotide-binding oligomerization domain containing 2
• NOTCH2: Notch homolog 2 (Drosophila)
• NPC1: Niemann-Pick disease, type C1
• NPC2: Niemann-Pick disease, type C2
• NR0B1: nuclear receptor subfamily 0, group B, member 1
• NR4A2: nuclear receptor subfamily 4, group A, member 2
• NR5A1: nuclear receptor subfamily 5, group A, member 1
• NSDHL: NAD(P) dependent steroid dehydrogenase-like
• OAT: ornithine aminotransferase (gyrate atrophy)
• OCRL: oculocerebrorenal syndrome of Lowe
• OPA1: optic atrophy 1 (autosomal dominant)
• OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
• OTC: ornithine carbamoyltransferase
• PABPN1: poly(A) binding protein, nuclear 1
• PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
• PARK7: Parkinson disease (autosomal recessive, early onset) 7
• PAX8: paired box 8
• PC: pyruvate carboxylase
• PCCB: propionyl Coenzyme A carboxylase, beta polypeptide
• PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
• PINK1: PTEN induced putative kinase 1
• PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent)
• PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
• PPOX: protoporphyrinogen oxidase
• PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
• PRNP: prion protein
• PROC: protein C (inactivator of coagulation factors Va and VIIIa)
• PROS1: protein S (alpha)
• PRX: periaxin
• PSAP: prosaposin
• PSEN1: presenilin 1
• PSEN2: presenilin 2 (Alzheimer disease 4)
• PTS: 6-pyruvoyltetrahydropterin synthase
• RAB7A: RAB7A, member RAS oncogene family
• RAD50: RAD50 homolog (S. cerevisiae)
• RAD51: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
• RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
• RB1: retinoblastoma 1
• RET: ret proto-oncogene
• RPL11: ribosomal protein L11
• RPS19: ribosomal protein S19
• RPS24: ribosomal protein S24
• RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
• RPS7: ribosomal protein S7
• RYR1: ryanodine receptor 1 (skeletal)
• SBDS: Shwachman-Bodian-Diamond syndrome
• SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
• SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
• SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
• SETX: senataxin
• SI: sucrase-isomaltase (alpha-glucosidase)
• SIL1: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
• SIX1: SIX homeobox 1
• SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
• SLC25A13: solute carrier family 25, member 13 (citrin)
• SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
• SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
• SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
• SMAD4: SMAD family member 4
• SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
• SMC1A: structural maintenance of chromosomes 1A
• SMC3: structural maintenance of chromosomes 3
• SMN2: survival of motor neuron 2, centromeric
• SNAI2: snail homolog 2 (Drosophila)
• SNCAIP: synuclein, alpha interacting protein
• SOD1: superoxide dismutase 1, soluble
• SOX2: SRY (sex determining region Y)-box 2
• SOX9: SRY (sex determining region Y)-box 9
• SP110: SP110 nuclear body protein
• SPAST: spastin
• SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
• SRY: sex determining region Y
• STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
• STK11: serine/threonine kinase 11
• SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
• SUCLG1: succinate-CoA ligase, alpha subunit
• TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
• TAZ: tafazzin
• TBP: TATA box binding protein
• TBX1: T-box 1
• TBX5: T-box 5
• TCOF1: Treacher Collins-Franceschetti syndrome 1
• TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
• TGFB1: transforming growth factor, beta 1
• TH: tyrosine hydroxylase
• TMPRSS3: transmembrane protease, serine 3
• TOR1A: torsin family 1, member A (torsin A)
• TP53: tumor protein p53
• TSC2: tuberous sclerosis 2
• TTN: titin
• TYMP: thymidine phosphorylase
• TYR: tyrosinase (oculocutaneous albinism IA)
• TYRP1: tyrosinase-related protein 1
• UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
• UROS: uroporphyrinogen III synthase
• VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
• VCP: valosin-containing protein
• VHL: von Hippel-Lindau tumor suppressor
• VWF: von Willebrand factor
• WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
• WFS1: Wolfram syndrome 1 (wolframin)
• WRN: Werner syndrome, RecQ helicase-like
• WT1: Wilms tumor 1
• ZAP70: zeta-chain (TCR) associated protein kinase 70kDa
• ZEB2: zinc finger E-box binding homeobox 2

Source: Gene Ontology Consortium (June 2009).