Cellular component organization

Cellular component organization

• AASS: aminoadipate-semialdehyde synthase
• ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
• ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
• ACVRL1: activin A receptor type II-like 1
• AGXT: alanine-glyoxylate aminotransferase
• ALDH5A1: aldehyde dehydrogenase 5 family, member A1
• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• AMELX: amelogenin (amelogenesis imperfecta 1, X-linked)
• ANG: angiogenin, ribonuclease, RNase A family, 5
• APC: adenomatous polyposis coli
• APOB: apolipoprotein B (including Ag(x) antigen)
• APOE: apolipoprotein E
• ATG16L1: ATG16 autophagy related 16-like 1 (S. cerevisiae)
• ATM: ataxia telangiectasia mutated
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide
• BLM: Bloom syndrome, RecQ helicase-like
• BRCA1: breast cancer 1, early onset
• BRCA2: breast cancer 2, early onset
• CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
• CLDN14: claudin 14
• CLN3: ceroid-lipofuscinosis, neuronal 3
• COL11A1: collagen, type XI, alpha 1
• COL11A2: collagen, type XI, alpha 2
• COL1A1: collagen, type I, alpha 1
• COL1A2: collagen, type I, alpha 2
• COL2A1: collagen, type II, alpha 1
• COL3A1: collagen, type III, alpha 1
• COL4A4: collagen, type IV, alpha 4
• COL5A1: collagen, type V, alpha 1
• COL5A2: collagen, type V, alpha 2
• CREBBP: CREB binding protein
• DCTN1: dynactin 1 (p150, glued homolog, Drosophila)
• DFNB31: deafness, autosomal recessive 31
• DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
• DNM2: dynamin 2
• DRD3: dopamine receptor D3
• EDN3: endothelin 3
• EYA1: eyes absent homolog 1 (Drosophila)
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FLNA: filamin A, alpha
• FOXL2: forkhead box L2
• FOXP3: forkhead box P3
• GCH1: GTP cyclohydrolase 1
• GJA1: gap junction protein, alpha 1, 43kDa
• GTF2I: general transcription factor IIi
• HFE: hemochromatosis
• HPRT1: hypoxanthine phosphoribosyltransferase 1
• IGF2: insulin-like growth factor 2 (somatomedin A)
• IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
• IL1A: interleukin 1, alpha
• ITGA6: integrin, alpha 6
• KAL1: Kallmann syndrome 1 sequence
• KRT14: keratin 14
• LDLR: low density lipoprotein receptor
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• LETM1: leucine zipper-EF-hand containing transmembrane protein 1
• LIMK1: LIM domain kinase 1
• LPL: lipoprotein lipase
• LRP2: low density lipoprotein-related protein 2
• LYST: lysosomal trafficking regulator
• MED12: mediator complex subunit 12
• MFN2: mitofusin 2
• MID1: midline 1 (Opitz/BBB syndrome)
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MYO6: myosin VI
• MYO7A: myosin VIIA
• NBN: nibrin
• NDP: Norrie disease (pseudoglioma)
• NEFL: neurofilament, light polypeptide
• NF1: neurofibromin 1
• NF2: neurofibromin 2 (merlin)
• NLRP3: NLR family, pyrin domain containing 3
• NOD2: nucleotide-binding oligomerization domain containing 2
• NSD1: nuclear receptor binding SET domain protein 1
• OPA1: optic atrophy 1 (autosomal dominant)
• OTOF: otoferlin
• PAFAH1B1: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
• PAX2: paired box 2
• PTEN: phosphatase and tensin homolog
• RAB7A: RAB7A, member RAS oncogene family
• RAD50: RAD50 homolog (S. cerevisiae)
• RAD51: RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)
• RB1: retinoblastoma 1
• ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
• SAR1B: SAR1 homolog B (S. cerevisiae)
• SBDS: Shwachman-Bodian-Diamond syndrome
• SEPT9: septin 9
• SLC7A7: solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
• SLC7A9: solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
• SMAD4: SMAD family member 4
• SMC1A: structural maintenance of chromosomes 1A
• SMC3: structural maintenance of chromosomes 3
• SMN2: survival of motor neuron 2, centromeric
• SNCA: synuclein, alpha (non A4 component of amyloid precursor)
• SOD1: superoxide dismutase 1, soluble
• SOX2: SRY (sex determining region Y)-box 2
• SPAST: spastin
• TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
• TAZ: tafazzin
• TBP: TATA box binding protein
• TGFB1: transforming growth factor, beta 1
• TNXB: tenascin XB
• TP53: tumor protein p53
• TRIOBP: TRIO and F-actin binding protein
• TSC1: tuberous sclerosis 1
• TSC2: tuberous sclerosis 2
• TTN: titin
• TYMP: thymidine phosphorylase
• VHL: von Hippel-Lindau tumor suppressor
• VLDLR: very low density lipoprotein receptor
• VWF: von Willebrand factor
• WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
• WRN: Werner syndrome, RecQ helicase-like

Source: Gene Ontology Consortium (June 2009).