The DNA sequence and comparative analysis of human chromosome 5.

Article Details

Citation

Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM

The DNA sequence and comparative analysis of human chromosome 5.

Nature. 2004 Sep 16;431(7006):268-74.

PubMed ID
15372022 [ View in PubMed
]
Abstract

Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Vascular endothelial growth factor receptor 3P35916Details
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrialQ9HCC0Details
5-hydroxytryptamine receptor 4Q13639Details
Alanine--glyoxylate aminotransferase 2, mitochondrialQ9BYV1Details
Solute carrier family 22 member 5O76082Details
Interleukin-3P08700Details
Alpha-aminoadipic semialdehyde dehydrogenaseP49419Details
Solute carrier family 23 member 1Q9UHI7Details
Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrialP31040Details
Platelet-derived growth factor receptor betaP09619Details
Threonine--tRNA ligase, cytoplasmicP26639Details
Solute carrier family 12 member 7Q9Y666Details
Dihydrofolate reductaseP00374Details
Prolactin receptorP16471Details
Peroxisomal multifunctional enzyme type 2P51659Details
Chromodomain-helicase-DNA-binding protein 1O14646Details
Proton-coupled amino acid transporter 1Q7Z2H8Details
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2O43678Details
3-hydroxy-3-methylglutaryl-coenzyme A reductaseP04035Details
Glutamate receptor 1P42261Details
5'-AMP-activated protein kinase catalytic subunit alpha-1Q13131Details
Fibroblast growth factor 1P05230Details
Sodium-dependent proline transporterQ99884Details
Histidine--tRNA ligase, cytoplasmicP12081Details
Solute carrier family 22 member 4Q9H015Details
Methionine synthase reductaseQ9UBK8Details
Leucine--tRNA ligase, cytoplasmicQ9P2J5Details
Glucocorticoid receptorP04150Details
Macrophage colony-stimulating factor 1 receptorP07333Details
CalpastatinP20810Details
Phosphatidylinositol 3-kinase regulatory subunit alphaP27986Details
CalnexinP27824Details
Excitatory amino acid transporter 1P43003Details
Geranylgeranyl transferase type-1 subunit betaP53609Details
Beta-hexosaminidase subunit betaP07686Details
Fibroblast growth factor receptor 4P22455Details
Ganglioside GM2 activatorP17900Details
Glucosamine-6-phosphate isomerase 1P46926Details
GastrotropinP51161Details
Neuroendocrine convertase 1P29120Details
5-phosphohydroxy-L-lysine phospho-lyaseQ8IUZ5Details
Peptidyl-glycine alpha-amidating monooxygenaseP19021Details
S-methylmethionine--homocysteine S-methyltransferase BHMT2Q9H2M3Details
Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrialP55809Details
Probable glutathione peroxidase 8Q8TED1Details
Atrial natriuretic peptide receptor 3P17342Details
Interleukin-13P35225Details
Telomerase reverse transcriptaseO14746Details
Voltage-dependent anion-selective channel protein 1P21796Details
Granulocyte-macrophage colony-stimulating factorP04141Details
Glial cell line-derived neurotrophic factorP39905Details
Mitogen-activated protein kinase kinase kinase 1Q13233Details
Gamma-aminobutyric acid receptor subunit gamma-2P18507Details
Adenylate cyclase type 2Q08462Details
Mitogen-activated protein kinase 9P45984Details
DNA polymerase kappaQ9UBT6Details
Casein kinase I isoform gamma-3Q9Y6M4Details
Calcium/calmodulin-dependent protein kinase type II subunit alphaQ9UQM7Details
UDP-glucuronosyltransferase 3A1Q6NUS8Details
Small conductance calcium-activated potassium channel protein 2Q9H2S1Details
Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseP26572Details
Ubiquitin-conjugating enzyme E2 D2P62837Details
Coagulation factor XIIP00748Details
Hyaluronan mediated motility receptorO75330Details
Selenoprotein PP49908Details
Programmed cell death protein 6O75340Details
Sodium-dependent phosphate transport protein 2AQ06495Details
Fibrillin-2P35556Details
Heat shock 70 kDa protein 4P34932Details
Survival motor neuron proteinB4DP61Details
Arylsulfatase BP15848Details
Serine/threonine-protein kinase NIM1Q8IY84Details
Testis-specific serine/threonine-protein kinase 1Q9BXA7Details
Casein kinase I isoform alphaP48729Details
Tyrosine-protein kinase FerP16591Details
Serine/threonine-protein kinase PLK2Q9NYY3Details
Serine/threonine-protein kinase RIO2Q9BVS4Details
Serine/threonine-protein kinase 10O94804Details
Serine/threonine-protein kinase 32AQ8WU08Details
Alpha-methylacyl-CoA racemaseD6RB81Details
Sodium/hydrogen exchanger 3P48764Details
Peroxisome proliferator-activated receptor gamma coactivator 1-betaQ86YN6Details
Zinc transporter 5Q8TAD4Details
Interleukin-6 receptor subunit betaP40189Details
PI-PLC X domain-containing protein 3Q63HM9Details