The DNA sequence and biological annotation of human chromosome 1.

Article Details


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

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

NameUniProt ID
Adenosine receptor A1P30542Details
Coagulation factor VP12259Details
Muscarinic acetylcholine receptor M3P20309Details
High affinity immunoglobulin epsilon receptor subunit gammaP30273Details
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2P26439Details
Serine--tRNA ligase, cytoplasmicP49591Details
CAMPATH-1 antigenP31358Details
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1Q02809Details
Cannabinoid receptor 2P34972Details
Sterol O-acyltransferase 1P35610Details
Potassium channel subfamily K member 1O00180Details
D-3-phosphoglycerate dehydrogenaseO43175Details
Carnitine O-palmitoyltransferase 2, mitochondrialP23786Details
3-keto-steroid reductaseP56937Details
Bifunctional glutamate/proline--tRNA ligaseP07814Details
Monocarboxylate transporter 5O15374Details
Potassium channel subfamily K member 2O95069Details
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrialP30038Details
Prostaglandin G/H synthase 2P35354Details
4-trimethylaminobutyraldehyde dehydrogenaseP49189Details
Spermidine synthaseP19623Details
Corticosteroid 11-beta-dehydrogenase isozyme 1P28845Details
AMP deaminase 1P23109Details
Adenosine receptor A3P0DMS8Details
GDH/6PGL endoplasmic bifunctional proteinO95479Details
Taste receptor type 1 member 2Q8TE23Details
Delta-type opioid receptorP41143Details
Cytochrome P450 4A11Q02928Details
Abelson tyrosine-protein kinase 2P42684Details
Antizyme inhibitor 2Q96A70Details
Putative gonadotropin-releasing hormone II receptorQ96P88Details
cAMP-specific 3',5'-cyclic phosphodiesterase 4BQ07343Details
Amiloride-sensitive sodium channel subunit deltaP51172Details
Retinoid-binding protein 7Q96R05Details
Atrial natriuretic peptide receptor 1P16066Details
Taste receptor type 1 member 3Q7RTX0Details
T-cell surface glycoprotein CD1aP06126Details
Glutamate--cysteine ligase regulatory subunitP48507Details
Prostaglandin F2-alpha receptorP43088Details
UMP-CMP kinaseP30085Details
Cytosolic phospholipase A2P47712Details
5-hydroxytryptamine receptor 1DP28221Details
Monocarboxylate transporter 1P53985Details
Retinoic acid receptor RXR-gammaP48443Details
High affinity immunoglobulin gamma Fc receptor IP12314Details
T-cell surface antigen CD2P06729Details
Pyrroline-5-carboxylate reductase 2Q96C36Details
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrialO75306Details
Sodium/potassium-transporting ATPase subunit alpha-1P05023Details
Methionine synthaseQ99707Details
Sodium/hydrogen exchanger 1P19634Details
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1O94760Details
Vasopressin V1b receptorP47901Details
5'-AMP-activated protein kinase subunit beta-2O43741Details
Farnesyl pyrophosphate synthaseP14324Details
Cellular retinoic acid-binding protein 2P29373Details
Cystathionine gamma-lyaseP32929Details
Glutathione S-transferase Mu 4Q03013Details
Glutamate receptor ionotropic, kainate 3Q13003Details
Ephrin type-A receptor 2P29317Details
Tyrosine-protein kinase LckP06239Details
CTP synthase 1P17812Details
C-reactive proteinP02741Details
Protein S100-A13Q99584Details
Low affinity immunoglobulin gamma Fc region receptor III-BO75015Details
Apolipoprotein A-IIP02652Details
Complement decay-accelerating factorP08174Details
Sodium- and chloride-dependent glycine transporter 1P48067Details
5-hydroxytryptamine receptor 6P50406Details
Tumor necrosis factor receptor superfamily member 1BP20333Details
Dihydropyrimidine dehydrogenase [NADP(+)]Q12882Details
Natriuretic peptides BP16860Details
Protein deglycase DJ-1Q99497Details
Synaptic vesicle glycoprotein 2AQ7L0J3Details
Basement membrane-specific heparan sulfate proteoglycan core proteinP98160Details
High affinity nerve growth factor receptorP04629Details
Transcription factor AP-1P05412Details
Protein S100-A1P23297Details
Protein-arginine deiminase type-4Q9UM07Details
Beta-nerve growth factorP01138Details
Vascular cell adhesion protein 1P19320Details
Tissue factorP13726Details
Quinone oxidoreductaseQ08257Details
Glutathione S-transferase Mu 2P28161Details
Fatty acid-binding protein, heartP05413Details
Protein S100-A12P80511Details
Serum amyloid P-componentP02743Details
MAP kinase-activated protein kinase 2P49137Details
UDP-N-acetylhexosamine pyrophosphorylaseQ16222Details
Uridine-cytidine kinase 2Q9BZX2Details
UDP-glucose 4-epimeraseQ14376Details
Uroporphyrinogen decarboxylaseP06132Details
Phospholipase A2, membrane associatedP14555Details
Cathepsin SP25774Details
Alpha-amylase 1P04745Details
Poly [ADP-ribose] polymerase 1P09874Details
Medium-chain specific acyl-CoA dehydrogenase, mitochondrialP11310Details
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1Q9HAN9Details
Estrogen-related receptor gammaP62508Details
Complement C1q subcomponent subunit AP02745Details
Complement C1q subcomponent subunit BP02746Details
Complement C1q subcomponent subunit CP02747Details
Low affinity immunoglobulin gamma Fc region receptor III-AP08637Details
Low affinity immunoglobulin gamma Fc region receptor II-aP12318Details
Low affinity immunoglobulin gamma Fc region receptor II-bP31994Details
Actin, alpha skeletal muscleP68133Details
Laminin subunit gamma-1P11047Details
Kynurenine--oxoglutarate transaminase 3Q6YP21Details
Methylmalonic aciduria and homocystinuria type C proteinQ9Y4U1Details
Methylenetetrahydrofolate reductaseP42898Details
Choline transporter-like protein 3Q8N4M1Details
Choline/ethanolaminephosphotransferase 1Q9Y6K0Details
Fatty-acid amide hydrolase 1O00519Details
Egl nine homolog 1Q9GZT9Details
Adenylosuccinate synthetase isozyme 2P30520Details
Aspartate--tRNA ligase, mitochondrialQ6PI48Details
Ornithine decarboxylase antizyme 3Q9UMX2Details
Glutamine synthetaseP15104Details
Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrialP21912Details
Succinate dehydrogenase cytochrome b560 subunit, mitochondrialQ99643Details
Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrialQ9BYC2Details
Beta-1,4-galactosyltransferase 3O60512Details
Beta-1,4-galactosyltransferase 2O60909Details
Excitatory amino acid transporter 5O00341Details
Microsomal glutathione S-transferase 3O14880Details
Thioredoxin domain-containing protein 12O95881Details
Glutathione peroxidase 7Q96SL4Details
Glutaredoxin-2, mitochondrialQ9NS18Details
Tryptophan--tRNA ligase, mitochondrialQ9UGM6Details
Protein-arginine deiminase type-1Q9ULC6Details
Protein-arginine deiminase type-3Q9ULW8Details
Protein-arginine deiminase type-2Q9Y2J8Details
Threonine--tRNA ligase, mitochondrialQ9BW92Details
Short-chain dehydrogenase/reductase 3O75911Details
Isoleucine--tRNA ligase, mitochondrialQ9NSE4Details
Peptidyl-prolyl cis-trans isomerase HO43447Details
Probable proline--tRNA ligase, mitochondrialQ7L3T8Details
Proteasome subunit beta type-2P49721Details
Guanylate kinaseQ16774Details
Voltage-dependent L-type calcium channel subunit alpha-1SQ13698Details
Prostaglandin E2 receptor EP3 subtypeP43115Details
Chloride channel protein ClC-KaP51800Details
Phosphatidylinositol 3-kinase regulatory subunit gammaQ92569Details
Serine/threonine-protein kinase mTORP42345Details
Potassium voltage-gated channel subfamily KQT member 4P56696Details
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoformO00329Details
Cytidine deaminaseP32320Details
E3 ubiquitin-protein ligase UBR4Q5T4S7Details
Protein S100-A11P31949Details
Interleukin-6 receptor subunit alphaP08887Details
Protein S100-A6P06703Details
Peptidoglycan recognition protein 3Q96LB9Details
Trafficking protein particle complex subunit 3O43617Details
Potassium voltage-gated channel subfamily C member 4Q03721Details
Hydroxymethylglutaryl-CoA lyase, mitochondrialP35914Details
Gamma-secretase subunit APH-1AQ96BI3Details
Cathepsin KP43235Details
Far upstream element-binding protein 1Q96AE4Details
Thrombopoietin receptorP40238Details
T-cell surface glycoprotein CD3 zeta chainP20963Details
Tumor necrosis factor receptor superfamily member 9Q07011Details
Tumor necrosis factor receptor superfamily member 8P28908Details
SLAM family member 7Q9NQ25Details
Induced myeloid leukemia cell differentiation protein Mcl-1Q07820Details
Thiamine transporter 1O60779Details
Alkaline phosphatase, tissue-nonspecific isozymeP05186Details
6-phosphogluconate dehydrogenase, decarboxylatingP52209Details
Geranylgeranyl pyrophosphate synthaseO95749Details
Major histocompatibility complex class I-related gene proteinQ95460Details
Gamma-aminobutyric acid receptor subunit deltaO14764Details
Protein S100-A2P29034Details
Potassium voltage-gated channel subfamily D member 3Q9UK17Details
Dimethylaniline monooxygenase [N-oxide-forming] 3P31513Details
Dimethylaniline monooxygenase [N-oxide-forming] 1Q01740Details
Carbonic anhydrase 6P23280Details
Carbonic anhydrase 14Q9ULX7Details
Matrix metalloproteinase-23O75900Details
Chymotrypsin-like elastase family member 2AP08217Details
Protein S100-A7P31151Details
Group IIE secretory phospholipase A2Q9NZK7Details
Dual specificity protein phosphatase 23Q9BVJ7Details
Endothelin-converting enzyme 1P42892Details
Serine/threonine-protein kinase Nek2P51955Details
ADP-ribosylation factor 1P84077Details
Nuclear receptor subfamily 1 group I member 3Q14994Details
Cytochrome b-c1 complex subunit 6, mitochondrialP07919Details
Proteasome subunit alpha type-5P28066Details
Proteasome subunit beta type-4P28070Details
Group IID secretory phospholipase A2Q9UNK4Details
Tyrosine-protein kinase JAK1P23458Details
Calcium/calmodulin-dependent protein kinase type 1GQ96NX5Details
Actin-related protein 2/3 complex subunit 5O15511Details
Ribosomal protein S6 kinase alpha-1Q15418Details
Protein S100-A4P26447Details
Alcohol dehydrogenase [NADP(+)]P14550Details
Small conductance calcium-activated potassium channel protein 3Q9UGI6Details
Type II inositol 1,4,5-trisphosphate 5-phosphataseP32019Details
Diphthine methyl ester synthaseQ9H2P9Details
Alpha-amylase 2BP19961Details
cAMP-dependent protein kinase catalytic subunit betaP22694Details
Adenylate kinase 2, mitochondrialP54819Details
Antigen-presenting glycoprotein CD1dP15813Details
Palmitoyl-protein thioesterase 1P50897Details
Ephrin type-B receptor 2P29323Details
T-complex protein 1 subunit gammaP49368Details
ERO1-like protein betaQ86YB8Details
Hydroxyacid oxidase 2Q9NYQ3Details
Cell division control protein 42 homologP60953Details
Kinesin-like protein KIF2CQ99661Details
Mannan-binding lectin serine protease 2O00187Details
Polycomb protein SCMH1Q96GD3Details
Cytochrome P450 4B1P13584Details
High affinity immunoglobulin gamma Fc receptor IBQ92637Details
A disintegrin and metalloproteinase with thrombospondin motifs 4O75173Details
Potassium voltage-gated channel subfamily A member 2P16389Details
Potassium voltage-gated channel subfamily A member 3P22001Details
Potassium voltage-gated channel subfamily A member 10Q16322Details
Discoidin domain-containing receptor 2Q16832Details
Adenylate kinase 4, mitochondrialP27144Details
Protein kinase C zeta typeQ05513Details
Neutrophil cytosol factor 2P19878Details
ATP-sensitive inward rectifier potassium channel 10P78508Details
5'-AMP-activated protein kinase catalytic subunit alpha-2P54646Details
Cyclic AMP-dependent transcription factor ATF-3P18847Details
Cyclic AMP-dependent transcription factor ATF-6 alphaP18850Details
Sodium/potassium-transporting ATPase subunit beta-1P05026Details
Metal regulatory transcription factor 1Q14872Details
Sodium/potassium-transporting ATPase subunit alpha-4Q13733Details
Sodium/potassium-transporting ATPase subunit alpha-2P50993Details
Voltage-dependent R-type calcium channel subunit alpha-1EQ15878Details
G protein-activated inward rectifier potassium channel 3Q92806Details
Potassium voltage-gated channel subfamily H member 1O95259Details
Solute carrier family 2, facilitated glucose transporter member 5P22732Details
Solute carrier family 2, facilitated glucose transporter member 7Q6PXP3Details
Ryanodine receptor 2Q92736Details
Tyrosine-protein kinase FgrP09769Details
Orexin receptor type 1O43613Details
Proprotein convertase subtilisin/kexin type 9Q8NBP7Details
Sphingosine 1-phosphate receptor 1P21453Details
Metallothionein 1H-like protein 1P0DM35Details
Protein S100-A16Q96FQ6Details
Protein S100-A8P05109Details
Splicing factor, proline- and glutamine-richP23246Details
Hepatoma-derived growth factorP51858Details
Protein S100-A9P06702Details
Tumor protein p73O15350Details
Nuclear migration protein nudCQ9Y266Details
Protein S100-A10P60903Details
Splicing factor 3A subunit 3Q12874Details
Tropomyosin alpha-3 chainP06753Details
Complement component C8 beta chainP07358Details
Complement factor HP08603Details
C4b-binding protein beta chainP20851Details
Complement component C8 alpha chainP07357Details
Coagulation factor XIII B chainP05160Details
Heterochromatin protein 1-binding protein 3Q5SSJ5Details
Serine/arginine-rich splicing factor 4Q08170Details
Retinoid isomerohydrolaseQ16518Details
Atypical kinase COQ8A, mitochondrialQ8NI60Details
Tyrosine-protein kinase receptor Tie-1P35590Details
Dual specificity protein kinase CLK2P49760Details
Ephrin type-A receptor 8P29322Details
Inhibitor of nuclear factor kappa-B kinase subunit epsilonQ14164Details
Insulin receptor-related proteinP14616Details
Mitogen-activated protein kinase kinase kinase 6O95382Details
Serine/threonine-protein kinase MARK1Q9P0L2Details
MAP kinase-interacting serine/threonine-protein kinase 1Q9BUB5Details
Phosphatidylinositol 4-kinase betaQ9UBF8Details
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit betaO00750Details
Serine/threonine-protein kinase N2Q16513Details
Serine/threonine-protein kinase PLK3Q9H4B4Details
Epoxide hydrolase 1P07099Details
POU domain, class 2, transcription factor 1P14859Details
Aflatoxin B1 aldehyde reductase member 3O95154Details
Voltage-gated potassium channel subunit beta-2Q13303Details
Type I iodothyronine deiodinaseP49895Details
Zinc transporter 7Q8NEW0Details
Zinc transporter 2Q9BRI3Details
Zinc transporter 10Q6XR72Details
Zinc transporter ZIP1Q9NY26Details
Tumor-associated calcium signal transducer 2P09758Details
Elongation of very long chain fatty acids protein 1Q9BW60Details
V-type proton ATPase 21 kDa proteolipid subunitQ99437Details
V-type proton ATPase subunit G 3Q96LB4Details
Plasma membrane calcium-transporting ATPase 4P23634Details
UbiA prenyltransferase domain-containing protein 1Q9Y5Z9Details
Lysine-specific histone demethylase 1AO60341Details
Nuclear receptor subfamily 0 group B member 2Q15466Details
Adenylate cyclase type 10Q96PN6Details