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Intracellular organelle lumen

Intracellular organelle lumen

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • AASS: aminoadipate-semialdehyde synthase
  • ACAD8: acyl-CoA dehydrogenase family, member 8
  • ACADM: acyl-CoA dehydrogenase, C-4 to C-12 straight chain
  • ACADS: acyl-CoA dehydrogenase, C-2 to C-3 short chain
  • ACADSB: acyl-CoA dehydrogenase, short/branched chain
  • ACADVL: acyl-CoA dehydrogenase, very long chain
  • ACAN: aggrecan
  • ACAT1: acetyl-CoA acetyltransferase 1
  • ACOX1: acyl-CoA oxidase 1, palmitoyl
  • ACTB: actin, beta
  • AFF2: AF4/FMR2 family, member 2
  • AGL: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
  • AGPS: alkylglycerone phosphate synthase
  • AGXT: alanine-glyoxylate aminotransferase
  • AIP: aryl hydrocarbon receptor interacting protein
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALAS1: 5'-aminolevulinate synthase 1
  • ALAS2: 5'-aminolevulinate synthase 2
  • ALDH4A1: aldehyde dehydrogenase 4 family, member A1
  • ALDH5A1: aldehyde dehydrogenase 5 family, member A1
  • ALDH7A1: aldehyde dehydrogenase 7 family, member A1
  • ALMS1: Alstrom syndrome 1
  • ALX1: ALX homeobox 1
  • AMACR: alpha-methylacyl-CoA racemase
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B
  • APRT: adenine phosphoribosyltransferase
  • APTX: aprataxin
  • AR: androgen receptor
  • ARID1A: AT rich interactive domain 1A (SWI-like)
  • ARID1B: AT rich interactive domain 1B (SWI1-like)
  • ARSA: arylsulfatase A
  • ARSB: arylsulfatase B
  • ARSE: arylsulfatase E (chondrodysplasia punctata 1)
  • ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • ATM: ATM serine/threonine kinase
  • ATN1: atrophin 1
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN1: ataxin 1
  • ATXN2: ataxin 2
  • ATXN3: ataxin 3
  • AUH: AU RNA binding protein/enoyl-CoA 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
  • BLM: Bloom syndrome, RecQ helicase-like
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • BTD: biotinidase
  • C10orf2: chromosome 10 open reading frame 2
  • C9orf72: chromosome 9 open reading frame 72
  • CALR: calreticulin
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CAT: catalase
  • CBS: cystathionine-beta-synthase
  • CDC6: cell division cycle 6
  • CDC73: cell division cycle 73
  • CDKL5: cyclin-dependent kinase-like 5
  • CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  • CDT1: chromatin licensing and DNA replication factor 1
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHEK2: checkpoint kinase 2
  • CHMP2B: charged multivesicular body protein 2B
  • CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
  • COG5: component of oligomeric golgi complex 5
  • COL11A1: collagen, type XI, alpha 1
  • COL11A2: collagen, type XI, alpha 2
  • COL17A1: collagen, type XVII, alpha 1
  • COL18A1: collagen, type XVIII, alpha 1
  • COL1A1: collagen, type I, alpha 1
  • COL1A2: collagen, type I, alpha 2
  • COL2A1: collagen, type II, alpha 1
  • COL3A1: collagen, type III, alpha 1
  • COL4A1: collagen, type IV, alpha 1
  • COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
  • COL4A4: collagen, type IV, alpha 4
  • COL4A5: collagen, type IV, alpha 5
  • COL5A1: collagen, type V, alpha 1
  • COL5A2: collagen, type V, alpha 2
  • COL6A1: collagen, type VI, alpha 1
  • COL6A2: collagen, type VI, alpha 2
  • COL6A3: collagen, type VI, alpha 3
  • COL7A1: collagen, type VII, alpha 1
  • COL8A2: collagen, type VIII, alpha 2
  • COL9A1: collagen, type IX, alpha 1
  • COL9A2: collagen, type IX, alpha 2
  • COL9A3: collagen, type IX, alpha 3
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding protein
  • CRTAP: cartilage associated protein
  • CSTB: cystatin B (stefin B)
  • CTC1: CTS telomere maintenance complex component 1
  • CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
  • CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
  • CTSA: cathepsin A
  • CTSD: cathepsin D
  • CTSF: cathepsin F
  • CUBN: cubilin (intrinsic factor-cobalamin receptor)
  • CUL7: cullin 7
  • CYLD: cylindromatosis (turban tumor syndrome)
  • CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
  • D2HGDH: D-2-hydroxyglutarate dehydrogenase
  • DARS2: aspartyl-tRNA synthetase 2, mitochondrial
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DCN: decorin
  • DDX11: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DGUOK: deoxyguanosine kinase
  • DHODH: dihydroorotate dehydrogenase (quinone)
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DLAT: dihydrolipoamide S-acetyltransferase
  • DLD: dihydrolipoamide dehydrogenase
  • DNMT3A: DNA (cytosine-5-)-methyltransferase 3 alpha
  • DUX4: double homeobox 4
  • EFTUD2: elongation factor Tu GTP binding domain containing 2
  • EHMT1: euchromatic histone-lysine N-methyltransferase 1
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • EPAS1: endothelial PAS domain protein 1
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • ERCC2: excision repair cross-complementation group 2
  • ERCC3: excision repair cross-complementation group 3
  • ERCC6: excision repair cross-complementation group 6
  • ERCC8: excision repair cross-complementation group 8
  • ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
  • ETFA: electron-transfer-flavoprotein, alpha polypeptide
  • ETFB: electron-transfer-flavoprotein, beta polypeptide
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • ETHE1: ethylmalonic encephalopathy 1
  • ETV6: ets variant 6
  • EWSR1: EWS RNA-binding protein 1
  • EXOSC3: exosome component 3
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • F2: coagulation factor II (thrombin)
  • F9: coagulation factor IX
  • FANCA: Fanconi anemia, complementation group A
  • FANCC: Fanconi anemia, complementation group C
  • FANCG: Fanconi anemia, complementation group G
  • FECH: ferrochelatase
  • FGFR2: fibroblast growth factor receptor 2
  • FGFR4: fibroblast growth factor receptor 4
  • FH: fumarate hydratase
  • FIP1L1: FIP1 like 1 (S. cerevisiae)
  • FMR1: fragile X mental retardation 1
  • FOXC1: forkhead box C1
  • FUS: FUS RNA binding protein
  • FXN: frataxin
  • GALC: galactosylceramidase
  • GALNS: galactosamine (N-acetyl)-6-sulfatase
  • GARS: glycyl-tRNA synthetase
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GBA: glucosidase, beta, acid
  • GCDH: glutaryl-CoA dehydrogenase
  • GCH1: GTP cyclohydrolase 1
  • GHRHR: growth hormone releasing hormone receptor
  • GLA: galactosidase, alpha
  • GLB1: galactosidase, beta 1
  • GLI3: GLI family zinc finger 3
  • GM2A: GM2 ganglioside activator
  • GNPAT: glyceronephosphate O-acyltransferase
  • GNS: glucosamine (N-acetyl)-6-sulfatase
  • GPC3: glypican 3
  • GPI: glucose-6-phosphate isomerase
  • GRHPR: glyoxylate reductase/hydroxypyruvate reductase
  • GTF2I: general transcription factor IIi
  • GTF2IRD1: GTF2I repeat domain containing 1
  • GUSB: glucuronidase, beta
  • HADH: hydroxyacyl-CoA dehydrogenase
  • 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
  • HARS2: histidyl-tRNA synthetase 2, mitochondrial
  • HEXA: hexosaminidase A (alpha polypeptide)
  • HEXB: hexosaminidase B (beta polypeptide)
  • HINT1: histidine triad nucleotide binding protein 1
  • HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • HOXA13: homeobox A13
  • HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
  • HSD17B4: hydroxysteroid (17-beta) dehydrogenase 4
  • HSPB8: heat shock 22kDa protein 8
  • HTT: huntingtin
  • IDH1: isocitrate dehydrogenase 1 (NADP+), soluble
  • IDH2: isocitrate dehydrogenase 2 (NADP+), mitochondrial
  • IDS: iduronate 2-sulfatase
  • IDUA: iduronidase, alpha-L-
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • INS: insulin
  • ISCU: iron-sulfur cluster assembly enzyme
  • IVD: isovaleryl-CoA dehydrogenase
  • JAK2: Janus kinase 2
  • KANSL1: KAT8 regulatory NSL complex subunit 1
  • KAT6B: K(lysine) acetyltransferase 6B
  • KDM6A: lysine (K)-specific demethylase 6A
  • KMT2D: lysine (K)-specific methyltransferase 2D
  • LARS2: leucyl-tRNA synthetase 2, mitochondrial
  • LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
  • LIMK1: LIM domain kinase 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMNA: lamin A/C
  • LRRK2: leucine-rich repeat kinase 2
  • MAPT: microtubule-associated protein tau
  • MATR3: matrin 3
  • MCCC1: methylcrotonoyl-CoA carboxylase 1 (alpha)
  • MCCC2: methylcrotonoyl-CoA carboxylase 2 (beta)
  • MCEE: methylmalonyl CoA epimerase
  • MCM6: minichromosome maintenance complex component 6
  • MECP2: methyl CpG binding protein 2
  • MED12: mediator complex subunit 12
  • MEN1: multiple endocrine neoplasia I
  • MFSD8: major facilitator superfamily domain containing 8
  • MLH1: mutL homolog 1
  • MLYCD: malonyl-CoA decarboxylase
  • MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
  • MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
  • MMP14: matrix metallopeptidase 14 (membrane-inserted)
  • MPLKIP: M-phase specific PLK1 interacting protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSX1: msh homeobox 1
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • MTTP: microsomal triglyceride transfer protein
  • MUC1: mucin 1, cell surface associated
  • MUT: methylmalonyl CoA mutase
  • MUTYH: mutY homolog
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • MYH7: myosin, heavy chain 7, cardiac muscle, beta
  • MYO6: myosin VI
  • NAGLU: N-acetylglucosaminidase, alpha
  • NAGS: N-acetylglutamate synthase
  • NBN: nibrin
  • NCF2: neutrophil cytosolic factor 2
  • NEU1: sialidase 1 (lysosomal sialidase)
  • NF2: neurofibromin 2 (merlin)
  • NGF: nerve growth factor (beta polypeptide)
  • NIPBL: Nipped-B homolog (Drosophila)
  • NOTCH2: notch 2
  • NOTCH3: notch 3
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NR3C2: nuclear receptor subfamily 3, group C, member 2
  • NR4A2: nuclear receptor subfamily 4, group A, member 2
  • NR5A1: nuclear receptor subfamily 5, group A, member 1
  • NSD1: nuclear receptor binding SET domain protein 1
  • OAT: ornithine aminotransferase
  • OPA1: optic atrophy 1 (autosomal dominant)
  • ORC1: origin recognition complex, subunit 1
  • ORC4: origin recognition complex, subunit 4
  • ORC6: origin recognition complex, subunit 6
  • OTC: ornithine carbamoyltransferase
  • OXCT1: 3-oxoacid CoA transferase 1
  • PABPN1: poly(A) binding protein, nuclear 1
  • PALB2: partner and localizer of BRCA2
  • PARK7: parkinson protein 7
  • PAX6: paired box 6
  • PAX8: paired box 8
  • PC: pyruvate carboxylase
  • PCBD1: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
  • PCCA: propionyl CoA carboxylase, alpha polypeptide
  • PCCB: propionyl CoA carboxylase, beta polypeptide
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PDHA1: pyruvate dehydrogenase (lipoamide) alpha 1
  • PDHB: pyruvate dehydrogenase (lipoamide) beta
  • PDHX: pyruvate dehydrogenase complex, component X
  • PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
  • PEX7: peroxisomal biogenesis factor 7
  • PHOX2A: paired-like homeobox 2a
  • PHOX2B: paired-like homeobox 2b
  • PHYH: phytanoyl-CoA 2-hydroxylase
  • PITX2: paired-like homeodomain 2
  • PKP2: plakophilin 2
  • PLAGL1: pleiomorphic adenoma gene-like 1
  • PML: promyelocytic leukemia
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PNPO: pyridoxamine 5'-phosphate oxidase
  • POLG: polymerase (DNA directed), gamma
  • POLH: polymerase (DNA directed), eta
  • POLR1C: polymerase (RNA) I polypeptide C, 30kDa
  • POLR1D: polymerase (RNA) I polypeptide D, 16kDa
  • POLR3A: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
  • POLR3B: polymerase (RNA) III (DNA directed) polypeptide B
  • POMC: proopiomelanocortin
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PQBP1: polyglutamine binding protein 1
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PROS1: protein S (alpha)
  • PSAP: prosaposin
  • PSMB8: proteasome (prosome, macropain) subunit, beta type, 8
  • PTEN: phosphatase and tensin homolog
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAD51: RAD51 recombinase
  • RAI1: retinoic acid induced 1
  • RARA: retinoic acid receptor, alpha
  • RARS2: arginyl-tRNA synthetase 2, mitochondrial
  • RB1: retinoblastoma 1
  • RBM8A: RNA binding motif protein 8A
  • RBPJ: recombination signal binding protein for immunoglobulin kappa J region
  • RNASEH2B: ribonuclease H2, subunit B
  • RPL11: ribosomal protein L11
  • RPL5: ribosomal protein L5
  • RPS10: ribosomal protein S10
  • RPS19: ribosomal protein S19
  • RPS24: ribosomal protein S24
  • RPS26: ribosomal protein S26
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RPS7: ribosomal protein S7
  • RUNX1: runt-related transcription factor 1
  • RUNX1T1: runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • RUNX2: runt-related transcription factor 2
  • SALL1: spalt-like transcription factor 1
  • SALL4: spalt-like transcription factor 4
  • SAMHD1: SAM domain and HD domain 1
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SERAC1: serine active site containing 1
  • SETX: senataxin
  • SGSH: N-sulfoglucosamine sulfohydrolase
  • SIX1: SIX homeobox 1
  • SIX5: SIX homeobox 5
  • SKI: SKI proto-oncogene
  • SKIV2L: superkiller viralicidic activity 2-like (S. cerevisiae)
  • SMAD3: SMAD family member 3
  • SMAD4: SMAD family member 4
  • SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
  • SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
  • SMC1A: structural maintenance of chromosomes 1A
  • SMC3: structural maintenance of chromosomes 3
  • SMN2: survival of motor neuron 2, centromeric
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
  • SNAI2: snail family zinc finger 2
  • 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
  • SPG11: spastic paraplegia 11 (autosomal recessive)
  • SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • SPRED1: sprouty-related, EVH1 domain containing 1
  • SQSTM1: sequestosome 1
  • SRCAP: Snf2-related CREBBP activator protein
  • STAMBP: STAM binding protein
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STAT4: signal transducer and activator of transcription 4
  • SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
  • SUCLG1: succinate-CoA ligase, alpha subunit
  • SUMF1: sulfatase modifying factor 1
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • T: T, brachyury homolog (mouse)
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TARDBP: TAR DNA binding protein
  • TBP: TATA box binding protein
  • TBX5: T-box 5
  • TCN2: transcobalamin II
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TERT: telomerase reverse transcriptase
  • TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
  • TGFB1: transforming growth factor, beta 1
  • TGIF1: TGFB-induced factor homeobox 1
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TK2: thymidine kinase 2, mitochondrial
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPP1: tripeptidyl peptidase I
  • TREX1: three prime repair exonuclease 1
  • TRPS1: trichorhinophalangeal syndrome I
  • TSEN2: tRNA splicing endonuclease 2 homolog (S. cerevisiae)
  • TSEN34: TSEN34 tRNA splicing endonuclease subunit
  • TTC37: tetratricopeptide repeat domain 37
  • TTN: titin
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • UROD: uroporphyrinogen decarboxylase
  • VCAN: versican
  • VCP: valosin containing protein
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • VRK1: vaccinia related kinase 1
  • WDR19: WD repeat domain 19
  • WHSC1: Wolf-Hirschhorn syndrome candidate 1
  • WNT3: wingless-type MMTV integration site family, member 3
  • WNT4: wingless-type MMTV integration site family, member 4
  • WRN: Werner syndrome, RecQ helicase-like
  • WT1: Wilms tumor 1
  • XPA: xeroderma pigmentosum, complementation group A
  • XPC: xeroderma pigmentosum, complementation group C
  • ZMYM2: zinc finger, MYM-type 2

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

 
Published: December 16, 2014