The DNA sequence and biological annotation of human chromosome 1.
Article Details
- CitationCopy to clipboard
Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E
The DNA sequence and biological annotation of human chromosome 1.
Nature. 2006 May 18;441(7091):315-21.
- PubMed ID
- 16710414 [ View in PubMed]
- Abstract
The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.
DrugBank Data that Cites this Article
- Polypeptides
Name UniProt ID Adenosine receptor A1 P30542 Details Coagulation factor V P12259 Details Muscarinic acetylcholine receptor M3 P20309 Details High affinity immunoglobulin epsilon receptor subunit gamma P30273 Details 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 P26439 Details Serine--tRNA ligase, cytoplasmic P49591 Details CAMPATH-1 antigen P31358 Details Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Q02809 Details Cannabinoid receptor 2 P34972 Details Sterol O-acyltransferase 1 P35610 Details Potassium channel subfamily K member 1 O00180 Details D-3-phosphoglycerate dehydrogenase O43175 Details Carnitine O-palmitoyltransferase 2, mitochondrial P23786 Details 3-keto-steroid reductase P56937 Details Bifunctional glutamate/proline--tRNA ligase P07814 Details Monocarboxylate transporter 5 O15374 Details Potassium channel subfamily K member 2 O95069 Details Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial P30038 Details Prostaglandin G/H synthase 2 P35354 Details Renin P00797 Details Antithrombin-III P01008 Details 4-trimethylaminobutyraldehyde dehydrogenase P49189 Details Spermidine synthase P19623 Details Corticosteroid 11-beta-dehydrogenase isozyme 1 P28845 Details AMP deaminase 1 P23109 Details Adenosine receptor A3 P0DMS8 Details GDH/6PGL endoplasmic bifunctional protein O95479 Details Taste receptor type 1 member 2 Q8TE23 Details Delta-type opioid receptor P41143 Details Cytochrome P450 4A11 Q02928 Details Abelson tyrosine-protein kinase 2 P42684 Details Antizyme inhibitor 2 Q96A70 Details Putative gonadotropin-releasing hormone II receptor Q96P88 Details cAMP-specific 3',5'-cyclic phosphodiesterase 4B Q07343 Details Amiloride-sensitive sodium channel subunit delta P51172 Details Retinoid-binding protein 7 Q96R05 Details Atrial natriuretic peptide receptor 1 P16066 Details Taste receptor type 1 member 3 Q7RTX0 Details T-cell surface glycoprotein CD1a P06126 Details Glutamate--cysteine ligase regulatory subunit P48507 Details Prostaglandin F2-alpha receptor P43088 Details UMP-CMP kinase P30085 Details Cytosolic phospholipase A2 P47712 Details 5-hydroxytryptamine receptor 1D P28221 Details Monocarboxylate transporter 1 P53985 Details Retinoic acid receptor RXR-gamma P48443 Details High affinity immunoglobulin gamma Fc receptor I P12314 Details T-cell surface antigen CD2 P06729 Details Osteocalcin P02818 Details Pyrroline-5-carboxylate reductase 2 Q96C36 Details NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial O75306 Details Sodium/potassium-transporting ATPase subunit alpha-1 P05023 Details Methionine synthase Q99707 Details Sodium/hydrogen exchanger 1 P19634 Details N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 O94760 Details Vasopressin V1b receptor P47901 Details 5'-AMP-activated protein kinase subunit beta-2 O43741 Details Farnesyl pyrophosphate synthase P14324 Details Cellular retinoic acid-binding protein 2 P29373 Details Cystathionine gamma-lyase P32929 Details Glutathione S-transferase Mu 4 Q03013 Details Glutamate receptor ionotropic, kainate 3 Q13003 Details Ephrin type-A receptor 2 P29317 Details Tyrosine-protein kinase Lck P06239 Details CTP synthase 1 P17812 Details C-reactive protein P02741 Details Protein S100-A13 Q99584 Details Low affinity immunoglobulin gamma Fc region receptor III-B O75015 Details Apolipoprotein A-II P02652 Details Complement decay-accelerating factor P08174 Details Sodium- and chloride-dependent glycine transporter 1 P48067 Details 5-hydroxytryptamine receptor 6 P50406 Details Tumor necrosis factor receptor superfamily member 1B P20333 Details Dihydropyrimidine dehydrogenase [NADP(+)] Q12882 Details Glucosylceramidase P04062 Details Natriuretic peptides B P16860 Details Protein deglycase DJ-1 Q99497 Details Synaptic vesicle glycoprotein 2A Q7L0J3 Details Basement membrane-specific heparan sulfate proteoglycan core protein P98160 Details High affinity nerve growth factor receptor P04629 Details Transcription factor AP-1 P05412 Details Chitotriosidase-1 Q13231 Details E-selectin P16581 Details Protein S100-A1 P23297 Details Protein-arginine deiminase type-4 Q9UM07 Details Beta-nerve growth factor P01138 Details Vascular cell adhesion protein 1 P19320 Details P-selectin P16109 Details Tissue factor P13726 Details Quinone oxidoreductase Q08257 Details Glutathione S-transferase Mu 2 P28161 Details Fatty acid-binding protein, heart P05413 Details Protein S100-A12 P80511 Details Serum amyloid P-component P02743 Details MAP kinase-activated protein kinase 2 P49137 Details UDP-N-acetylhexosamine pyrophosphorylase Q16222 Details Uridine-cytidine kinase 2 Q9BZX2 Details UDP-glucose 4-epimerase Q14376 Details Uroporphyrinogen decarboxylase P06132 Details Phospholipase A2, membrane associated P14555 Details Cathepsin S P25774 Details Alpha-amylase 1 P04745 Details Poly [ADP-ribose] polymerase 1 P09874 Details Medium-chain specific acyl-CoA dehydrogenase, mitochondrial P11310 Details Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 Q9HAN9 Details Estrogen-related receptor gamma P62508 Details Complement C1q subcomponent subunit A P02745 Details Complement C1q subcomponent subunit B P02746 Details Complement C1q subcomponent subunit C P02747 Details Low affinity immunoglobulin gamma Fc region receptor III-A P08637 Details Low affinity immunoglobulin gamma Fc region receptor II-a P12318 Details Low affinity immunoglobulin gamma Fc region receptor II-b P31994 Details Actin, alpha skeletal muscle P68133 Details Laminin subunit gamma-1 P11047 Details Nidogen-1 P14543 Details Kynurenine--oxoglutarate transaminase 3 Q6YP21 Details Methylmalonic aciduria and homocystinuria type C protein Q9Y4U1 Details Methylenetetrahydrofolate reductase P42898 Details Choline transporter-like protein 3 Q8N4M1 Details Choline/ethanolaminephosphotransferase 1 Q9Y6K0 Details Fatty-acid amide hydrolase 1 O00519 Details Egl nine homolog 1 Q9GZT9 Details Adenylosuccinate synthetase isozyme 2 P30520 Details Aspartate--tRNA ligase, mitochondrial Q6PI48 Details Ornithine decarboxylase antizyme 3 Q9UMX2 Details Glutamine synthetase P15104 Details Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial P21912 Details Succinate dehydrogenase cytochrome b560 subunit, mitochondrial Q99643 Details Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial Q9BYC2 Details Beta-1,4-galactosyltransferase 3 O60512 Details Beta-1,4-galactosyltransferase 2 O60909 Details Excitatory amino acid transporter 5 O00341 Details Microsomal glutathione S-transferase 3 O14880 Details Thioredoxin domain-containing protein 12 O95881 Details Glutathione peroxidase 7 Q96SL4 Details Glutaredoxin-2, mitochondrial Q9NS18 Details Tryptophan--tRNA ligase, mitochondrial Q9UGM6 Details Protein-arginine deiminase type-1 Q9ULC6 Details Protein-arginine deiminase type-3 Q9ULW8 Details Protein-arginine deiminase type-2 Q9Y2J8 Details Threonine--tRNA ligase, mitochondrial Q9BW92 Details Short-chain dehydrogenase/reductase 3 O75911 Details Isoleucine--tRNA ligase, mitochondrial Q9NSE4 Details Peptidyl-prolyl cis-trans isomerase H O43447 Details Probable proline--tRNA ligase, mitochondrial Q7L3T8 Details Proteasome subunit beta type-2 P49721 Details Guanylate kinase Q16774 Details Voltage-dependent L-type calcium channel subunit alpha-1S Q13698 Details Prostaglandin E2 receptor EP3 subtype P43115 Details Chloride channel protein ClC-Ka P51800 Details Phosphatidylinositol 3-kinase regulatory subunit gamma Q92569 Details Serine/threonine-protein kinase mTOR P42345 Details Potassium voltage-gated channel subfamily KQT member 4 P56696 Details Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform O00329 Details Cytidine deaminase P32320 Details E3 ubiquitin-protein ligase UBR4 Q5T4S7 Details Protein S100-A11 P31949 Details Interleukin-6 receptor subunit alpha P08887 Details Protein S100-A6 P06703 Details Peptidoglycan recognition protein 3 Q96LB9 Details Trafficking protein particle complex subunit 3 O43617 Details Potassium voltage-gated channel subfamily C member 4 Q03721 Details Hydroxymethylglutaryl-CoA lyase, mitochondrial P35914 Details Gamma-secretase subunit APH-1A Q96BI3 Details Cathepsin K P43235 Details Far upstream element-binding protein 1 Q96AE4 Details Thrombopoietin receptor P40238 Details T-cell surface glycoprotein CD3 zeta chain P20963 Details Tumor necrosis factor receptor superfamily member 9 Q07011 Details Tumor necrosis factor receptor superfamily member 8 P28908 Details SLAM family member 7 Q9NQ25 Details Mucin-1 P15941 Details Induced myeloid leukemia cell differentiation protein Mcl-1 Q07820 Details Thiamine transporter 1 O60779 Details Alkaline phosphatase, tissue-nonspecific isozyme P05186 Details 6-phosphogluconate dehydrogenase, decarboxylating P52209 Details Geranylgeranyl pyrophosphate synthase O95749 Details Major histocompatibility complex class I-related gene protein Q95460 Details Gamma-aminobutyric acid receptor subunit delta O14764 Details Protein S100-A2 P29034 Details Potassium voltage-gated channel subfamily D member 3 Q9UK17 Details Dimethylaniline monooxygenase [N-oxide-forming] 3 P31513 Details Dimethylaniline monooxygenase [N-oxide-forming] 1 Q01740 Details Carbonic anhydrase 6 P23280 Details Carbonic anhydrase 14 Q9ULX7 Details Matrix metalloproteinase-23 O75900 Details Chymotrypsin-like elastase family member 2A P08217 Details Protein S100-A7 P31151 Details Group IIE secretory phospholipase A2 Q9NZK7 Details Dual specificity protein phosphatase 23 Q9BVJ7 Details Endothelin-converting enzyme 1 P42892 Details Serine/threonine-protein kinase Nek2 P51955 Details ADP-ribosylation factor 1 P84077 Details Nuclear receptor subfamily 1 group I member 3 Q14994 Details Cytochrome b-c1 complex subunit 6, mitochondrial P07919 Details Proteasome subunit alpha type-5 P28066 Details Proteasome subunit beta type-4 P28070 Details Group IID secretory phospholipase A2 Q9UNK4 Details Tyrosine-protein kinase JAK1 P23458 Details Calcium/calmodulin-dependent protein kinase type 1G Q96NX5 Details Actin-related protein 2/3 complex subunit 5 O15511 Details Ribosomal protein S6 kinase alpha-1 Q15418 Details Protein S100-A4 P26447 Details Alcohol dehydrogenase [NADP(+)] P14550 Details Small conductance calcium-activated potassium channel protein 3 Q9UGI6 Details Type II inositol 1,4,5-trisphosphate 5-phosphatase P32019 Details Diphthine methyl ester synthase Q9H2P9 Details Alpha-amylase 2B P19961 Details Phosphoglucomutase-1 P36871 Details cAMP-dependent protein kinase catalytic subunit beta P22694 Details Adenylate kinase 2, mitochondrial P54819 Details Antigen-presenting glycoprotein CD1d P15813 Details Palmitoyl-protein thioesterase 1 P50897 Details Ephrin type-B receptor 2 P29323 Details T-complex protein 1 subunit gamma P49368 Details ERO1-like protein beta Q86YB8 Details Hydroxyacid oxidase 2 Q9NYQ3 Details Cell division control protein 42 homolog P60953 Details Kinesin-like protein KIF2C Q99661 Details Mannan-binding lectin serine protease 2 O00187 Details Polycomb protein SCMH1 Q96GD3 Details Peroxiredoxin-6 P30041 Details Cytochrome P450 4B1 P13584 Details High affinity immunoglobulin gamma Fc receptor IB Q92637 Details A disintegrin and metalloproteinase with thrombospondin motifs 4 O75173 Details Potassium voltage-gated channel subfamily A member 2 P16389 Details Potassium voltage-gated channel subfamily A member 3 P22001 Details Potassium voltage-gated channel subfamily A member 10 Q16322 Details Discoidin domain-containing receptor 2 Q16832 Details Adenylate kinase 4, mitochondrial P27144 Details Protein kinase C zeta type Q05513 Details Neutrophil cytosol factor 2 P19878 Details ATP-sensitive inward rectifier potassium channel 10 P78508 Details 5'-AMP-activated protein kinase catalytic subunit alpha-2 P54646 Details Cyclic AMP-dependent transcription factor ATF-3 P18847 Details Cyclic AMP-dependent transcription factor ATF-6 alpha P18850 Details Sodium/potassium-transporting ATPase subunit beta-1 P05026 Details Metal regulatory transcription factor 1 Q14872 Details Sodium/potassium-transporting ATPase subunit alpha-4 Q13733 Details Sodium/potassium-transporting ATPase subunit alpha-2 P50993 Details Voltage-dependent R-type calcium channel subunit alpha-1E Q15878 Details G protein-activated inward rectifier potassium channel 3 Q92806 Details Potassium voltage-gated channel subfamily H member 1 O95259 Details Solute carrier family 2, facilitated glucose transporter member 5 P22732 Details Solute carrier family 2, facilitated glucose transporter member 7 Q6PXP3 Details Ryanodine receptor 2 Q92736 Details Tyrosine-protein kinase Fgr P09769 Details Alpha-enolase P06733 Details Peroxiredoxin-1 Q06830 Details Orexin receptor type 1 O43613 Details Proprotein convertase subtilisin/kexin type 9 Q8NBP7 Details Sphingosine 1-phosphate receptor 1 P21453 Details Metallothionein 1H-like protein 1 P0DM35 Details Calsequestrin-2 O14958 Details Calsequestrin-1 P31415 Details Protein S100-A16 Q96FQ6 Details Protein S100-A8 P05109 Details Splicing factor, proline- and glutamine-rich P23246 Details Hepatoma-derived growth factor P51858 Details Protein S100-A9 P06702 Details Tumor protein p73 O15350 Details Nuclear migration protein nudC Q9Y266 Details Protein S100-A10 P60903 Details Splicing factor 3A subunit 3 Q12874 Details Tropomyosin alpha-3 chain P06753 Details Complement component C8 beta chain P07358 Details Complement factor H P08603 Details C4b-binding protein beta chain P20851 Details Complement component C8 alpha chain P07357 Details Coagulation factor XIII B chain P05160 Details Ficolin-3 O75636 Details Hornerin Q86YZ3 Details Heterochromatin protein 1-binding protein 3 Q5SSJ5 Details Serine/arginine-rich splicing factor 4 Q08170 Details Transgelin-2 P37802 Details Retinoid isomerohydrolase Q16518 Details Atypical kinase COQ8A, mitochondrial Q8NI60 Details Tyrosine-protein kinase receptor Tie-1 P35590 Details Dual specificity protein kinase CLK2 P49760 Details Ephrin type-A receptor 8 P29322 Details Inhibitor of nuclear factor kappa-B kinase subunit epsilon Q14164 Details Insulin receptor-related protein P14616 Details Mitogen-activated protein kinase kinase kinase 6 O95382 Details Serine/threonine-protein kinase MARK1 Q9P0L2 Details MAP kinase-interacting serine/threonine-protein kinase 1 Q9BUB5 Details Phosphatidylinositol 4-kinase beta Q9UBF8 Details Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta O00750 Details Serine/threonine-protein kinase N2 Q16513 Details Serine/threonine-protein kinase PLK3 Q9H4B4 Details Epoxide hydrolase 1 P07099 Details POU domain, class 2, transcription factor 1 P14859 Details Nectin-4 Q96NY8 Details Aflatoxin B1 aldehyde reductase member 3 O95154 Details Voltage-gated potassium channel subunit beta-2 Q13303 Details Type I iodothyronine deiodinase P49895 Details Zinc transporter 7 Q8NEW0 Details Zinc transporter 2 Q9BRI3 Details Zinc transporter 10 Q6XR72 Details Zinc transporter ZIP1 Q9NY26 Details Tumor-associated calcium signal transducer 2 P09758 Details Elongation of very long chain fatty acids protein 1 Q9BW60 Details V-type proton ATPase 21 kDa proteolipid subunit Q99437 Details V-type proton ATPase subunit G 3 Q96LB4 Details Plasma membrane calcium-transporting ATPase 4 P23634 Details Caspase-9 P55211 Details UbiA prenyltransferase domain-containing protein 1 Q9Y5Z9 Details Lysine-specific histone demethylase 1A O60341 Details Nuclear receptor subfamily 0 group B member 2 Q15466 Details Adenylate cyclase type 10 Q96PN6 Details