El cromosoma 19 es uno de los 23 pares de cromosomas en humanos . Las personas normalmente tienen dos copias de este cromosoma. El cromosoma 19 abarca más de 58,6 millones de pares de bases , el material de construcción del ADN .
Cromosoma 19 | |
---|---|
Características | |
Longitud ( pb ) | 58,617,616 pb ( GRCh38 ) [1] |
No. de genes | 1357 ( CCDS ) [2] |
Tipo | Autosome |
Posición del centrómero | Metacéntrico [3] (26,2 Mbp [4] ) |
Listas completas de genes | |
CCDS | Lista de genes |
HGNC | Lista de genes |
UniProt | Lista de genes |
NCBI | Lista de genes |
Visores de mapas externos | |
Ensembl | Cromosoma 19 |
Entrez | Cromosoma 19 |
NCBI | Cromosoma 19 |
UCSC | Cromosoma 19 |
Secuencias de ADN completas | |
RefSeq | NC_000019 ( FASTA ) |
GenBank | CM000681 ( FASTA ) |
Genes
Numero de genes
Las siguientes son algunas de las estimaciones del recuento de genes del cromosoma humano 19. Debido a que los investigadores utilizan diferentes enfoques para la anotación del genoma, sus predicciones de la cantidad de genes en cada cromosoma varían (para obtener detalles técnicos, consulte la predicción de genes ). Entre varios proyectos, el proyecto colaborativo de secuencia de codificación por consenso ( CCDS ) adopta una estrategia extremadamente conservadora. Por tanto, la predicción del número de genes de CCDS representa un límite inferior en el número total de genes codificadores de proteínas humanas. [5]
estimado por | Genes que codifican proteínas | Genes de ARN no codificantes | Pseudogenes | Fuente | Fecha de lanzamiento |
---|---|---|---|---|---|
CCDS | 1357 | - | - | [2] | 2016-09-08 |
HGNC | 1.372 | 299 | 413 | [6] | 2017-05-12 |
Ensembl | 1,469 | 894 | 514 | [7] | 2017-03-29 |
UniProt | 1.435 | - | - | [8] | 2018-02-28 |
NCBI | 1.430 | 604 | 528 | [9] [10] [11] | 2017-05-19 |
Lista de genes
La siguiente es una lista parcial de genes en el cromosoma humano 19. Para obtener una lista completa, consulte el enlace en el cuadro de información de la derecha.
- A1BG : proteína codificante de la glucoproteína alfa-1-B
- AAVS1 , sitio de integración viral
- ACSBG2 : enzima codificante de ácidos grasos de cadena larga — CoA ligasa
- ANKRD24 : proteína codificante de la proteína que contiene el dominio de repetición de anquirina 24
- ARMC6 : proteína codificante de la proteína 6 que contiene repeticiones de Armadillo
- ATG4D : proteína codificante 4D relacionada con la autofagia, cisteína peptidasa
- ATP5SL : proteína codificante de la subunidad s de la subunidad de ATP sintasa
- ATPasa ASNA1 : enzima codificante ATPasa ASNA1 también conocida como ATPasa que impulsa la bomba de arsenical y ATPasa estimulada por arsenito
- BTBD14B : proteína codificante de la proteína 1 asociada al núcleo accumbens
- CACTINA : proteína que codifica Cactina
- CCDC130 : proteína codificante Dominio de espiral que contiene 130
- CCDC151 : proteína codificante Dominio de espiral que contiene 151
- CCDC8 : proteína codificante Dominio de espiral en espiral que contiene 8
- CCDC94 : proteína codificante de dominio en espiral que contiene 94 (CCDC94),
- DNASE2 : proteína codificante desoxirribonucleasa II, lisosomal
- EID2 :
- ETV2 : proteína que codifica la variante 2 de Ets
- HCST : proteína codificante transductor de señal de células hematopoyéticas
- HRC : proteína codificante Retículo sarcoplásmico proteína de unión a calcio rica en histidina
- IFI30 : enzima codificante de tiol reductasa lisosomal inducible por interferón gamma
- IGFL3 : proteína que codifica IGF como miembro de la familia 3
- KRTDAP : proteína codificante Proteína asociada a la diferenciación de queratinocitos
- LIM2 : proteína codificante proteína intrínseca de la membrana de la fibra del lente
- LRG1 : proteína codificante alfa-2-glucoproteína 1 rica en leucina
- LSM4 : codificación de la proteína U6, proteína similar a Sm asociada al ARNp LSm4
- LSR : proteína codificante, receptor de lipoproteínas estimulado por lipólisis
- LYPD5 : proteína codificante LY6 / dominio PLAUR que contiene 5
- MBOAT7 : enzima codificante lisofosfolípido aciltransferasa 7
- MOBKL2A : enzima codificante Mps one, tipo activador de quinasa aglutinante 2A
- MZF1-AS1 : proteína codificante MZF1 antisentido ARN 1
- NCLN : proteína codificante Nicalin
- NFKBID : proteína codificante Factor nuclear del potenciador del gen del polipéptido ligero kappa en inhibidor de células B
- NOSIP : enzima codificante, proteína que interactúa con la óxido nítrico sintasa
- NWD1 : dominio de repetición NACHT y WD que contiene 1.
- OLFM2 : proteína codificante Olfactomedin 2
- OSCAR : proteína codificante del receptor similar a inmunoglobulina asociado a osteoclastos
- PALMA : proteína que codifica Paralemmina
- PDCD5 : proteína codificante Proteína 5 de muerte celular programada
- PEX11G : factor de biogénesis peroxisomal 11 gamma
- PGK1P2 : codificante de fosfoglicerato quinasa 1, proteína pseudogén 2
- PLIN4 : proteína que codifica Perilipin 4
- PLVAP : proteína codificante Proteína asociada a vesículas de Plasmalemma
- PRR12 : proteína codificante rica en prolina 12
- PRR36 (Proline Rich Region 36) que codifica la proteína PRP36 (Proline Rich Protein 36)
- KLK3 : el antígeno prostático específico (PSA)
- PRX : periaxina
- PTOV1 : proteína que codifica el tumor de próstata sobreexpresa la proteína del gen 1
- SBNO2 : proteína codificante Homólogo 2 de muesca de fresa (Drosophila)
- SEPW1 : proteína codificante Selenoproteína W
- SFRS14 : proteína codificante Factor de corte y empalme putativo, rico en arginina / serina 14
- SFRS16 : factor de empalme de proteína codificante , rico en arginina / serina 16
- SLC5A5 : Familia de portadores de solutos 5 (simportador de yoduro de sodio), miembro 5
- STK11 : Serina / treonina quinasa 11 (síndrome de Peutz-Jeghers)
- TBCB : proteína codificante cofactor B de plegamiento de tubulina
- TECR : enzima codificante Trans-2,3-enoil-CoA reductasa
- THOP1 : enzima codificante Thimet oligopeptidasa
- TIMM50 : subunidad de translocasas de membrana interna de importación mitocondrial de la enzima codificadora TIM50
- TIP39: encoding protein Tuberoinfundibular peptide of 39 residues
- TMED1: encoding protein Transmembrane emp24 domain-containing protein 1
- TMEM160: encoding protein Transmembrane protein 160
- TMEM205: encoding protein Transmembrane Protein 205
- UBXN6: encoding protein UBX domain protein 6
- UCA1: a long non-coding RNA Urothelial cancer associated 1
- UPK1A: encoding protein Uroplakin-1a
- USE1: encoding protein Uncharacterized hematopoietic stem/progenitor cells protein MDS032
- ZFP82: encoding protein ZFP82 zinc finger protein
- ZSCAN4: Zinc finger and scan domain containing 4
- ZSCAN18: encoding protein Zinc finger and SCAN domain containing 18
- ZNF112: encoding protein Zinc finger protein 112
- ZNF134: encoding protein Zinc finger protein 134
- ZNF160: encoding protein Zinc finger protein 160
- ZNF180: encoding protein Zinc finger protein 180
- ZNF208: encoding protein Zinc finger protein 208
- ZNF224: encoding protein Zinc finger protein 224
- ZNF225: encoding protein Zinc finger protein 225
- ZNF226: encoding protein Zinc finger protein 226
- ZNF229: encoding protein Zinc finger protein 229
- ZNF257: encoding protein Zinc finger protein 257
- ZNF264: encoding protein Zinc finger protein 264
- ZNF266: encoding protein Zinc finger protein 266
- ZNF274: encoding protein Zinc finger protein 274
- ZNF331: encoding protein Zinc finger protein 331
- ZNF347: encoding protein Zinc finger protein 347
- ZNF426: encoding protein Zinc finger protein 426
- ZNF665 encoding protein Zinc finger protein 665
- ZNF473: encoding protein Zinc finger protein 473
- ZNF506: encoding protein Zinc finger protein 506
- ZNF507: encoding protein Zinc finger protein 507
- ZNF536: encoding protein Zinc finger protein 536
- ZNF541: encoding protein Zinc finger protein 541
- ZNF557: encoding protein Zinc finger protein 557
- ZNF571: encoding protein Zinc finger protein 571
- ZNF576: encoding protein Zinc finger protein 576
- Zinc finger protein 613: encoding protein Zinc finger protein 613
- ZNF649: Transcriptional suppressor
- ZNF71: encoding protein Endothelial zinc finger protein induced by tumor necrosis factor alpha
- ZNF737: encoding protein Zinc finger protein 737
- ZNF749: encoding protein Zinc finger protein 749
- ZNF676: encoding protein Zinc finger protein 676
- ZNF772: encoding protein Zinc finger protein 772
- ZNF784: encoding protein Zinc finger protein 784
- ZNF8: encoding protein Zinc finger protein 8
- ZNF83: encoding protein Zinc finger protein 83
- ZNF878: encoding protein Zinc finger protein 878
- ZNF880: encoding protein Zinc finger protein 880
Short arm
- CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Familial hemiplegic migraine Type I). Gene map locus 19p13
- COMP: Cartilage oligomeric matrix protein. Gene map locus 19p13.1
- NOTCH3: Notch homolog 3 (Drosophila): Gene map locus 19p13.1-p13.2
- GCDH: Glutaryl-Coenzyme A dehydrogenase. Gene map locus 19p13.2
- ZNF121: Zinc finger protein 121. Gene map locus 19p13.2
- BSG: Basigin (Ok blood group)/Extracellular matrix metalloproteinase inducer/CD147. Gene map locus 19p13.3
- ICAM4: Landsteiner and Weiner glycoprotein. Gene map locus 19p13.3
- NRTN: Neurturin, associated with Hirschsprung's disease: Gene locus map 19p13.3
- GTPBP3: GTP binding protein 3 19p13.11
- KLF2: Krüppel-like factor 2, also known as Lung Krüppel-like factor. Gene map locus 19p13.11 OMIM: 602016
- FAM32A: family with sequence similarity 32 member A 19q13.11
- DDX39: DExD-box helicase 39. Gene map locus 19p13.12
Long arm
- GAPDHS: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic 19q13.12
- HAMP: Hepcidin antimicrobial peptide. Gene map locus 19q13.12
- BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2
- APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus 19q13.2
- CIC: Capicua transcriptional repressor. Gene map locus 19q13.2
- FCGBP: Fc fragment of IgG binding protein
- SARS2: seryl-tRNA synthetase 2, mitochondrial. Gene map locus 19q13.2
- ATP1A3: ATPase. Gene map locus 19q13.31
- DMWD: DM1 locus, WD repeat containing. Gene map locus 19q13.32
- PNMA8A: paraneoplastic Ma antigen family member 8A 19q13.32
- DMPK: Dystrophia myotonica-protein kinase. Gene map locus 19q13.32
- GLTSCR2: Glioma tumor suppressor candidate region gene 2 protein 19q13.33
- A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
- LRC: The Leukocyte Receptor Complex is a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. The LRC also includes the KIR locus. Gene map locus 19q13.4 OMIM: 604812
- KPTN: Kaptin (actin binding protein) at the tips of stereocilia. Gene map locus 19q13.4[12]
- FUT1: The H locus is located on chromosome 19 at 19q13.3. It contains three exons that span more than 5 kb of genomic DNA, and it encodes a fucosyltransferase that produces the H antigen on RBCs.[13]
- FUT2: The Se locus is located on chromosome 19 at 19q13.3. It contains two exons that span about 25 kb of genomic DNA. The Se locus encodes a specific fucosyltransferase that is expressed in the epithelia of secretory tissues, such as salivary glands, the gastrointestinal tract, and the respiratory tract. The enzyme it encodes catalyzes the production of H antigen.[13]
- MORT (Mortal Obligate RNA Transcript, lincRNA): Gene map locus 19q13.43
Enfermedades y trastornos
The following diseases are some of those related to genes on chromosome 19:[14]
- Alternating hemiplegia of childhood
- Alzheimer's disease
- CADASIL
- Centronuclear myopathy autosomal dominant form
- Charcot–Marie–Tooth disease
- Congenital hearing loss
- Congenital hypothyroidism
- Donohue syndrome
- Familial hemiplegic migraine
- Glutaric acidemia type 1
- Hemochromatosis
- HUPRA syndrome[15]
- Leber congenital amaurosis[16]
- Maple syrup urine disease
- Marfan syndrome
- Multiple epiphyseal dysplasia
- Myotonic dystrophy
- Myotubular myopathy autosomal dominant form
- Oligodendroglioma
- Peutz–Jeghers syndrome
- Prolidase deficiency
- Pseudoachondroplasia
- Spinocerebellar ataxia type 6
- X-linked agammaglobulinemia or Bruton's disease
Banda citogenética
Chr. | Arm[22] | Band[23] | ISCN start[24] | ISCN stop[24] | Basepair start | Basepair stop | Stain[25] | Density |
---|---|---|---|---|---|---|---|---|
19 | p | 13.3 | 0 | 578 | 1 | 6,900,000 | gneg | |
19 | p | 13.2 | 578 | 870 | 6,900,001 | 12,600,000 | gpos | 25 |
19 | p | 13.13 | 870 | 1034 | 12,600,001 | 13,800,000 | gneg | |
19 | p | 13.12 | 1034 | 1216 | 13,800,001 | 16,100,000 | gpos | 25 |
19 | p | 13.11 | 1216 | 1581 | 16,100,001 | 19,900,000 | gneg | |
19 | p | 12 | 1581 | 1809 | 19,900,001 | 24,200,000 | gvar | |
19 | p | 11 | 1809 | 1992 | 24,200,001 | 26,200,000 | acen | |
19 | q | 11 | 1992 | 2159 | 26,200,001 | 28,100,000 | acen | |
19 | q | 12 | 2159 | 2372 | 28,100,001 | 31,900,000 | gvar | |
19 | q | 13.11 | 2372 | 2569 | 31,900,001 | 35,100,000 | gneg | |
19 | q | 13.12 | 2569 | 2737 | 35,100,001 | 37,800,000 | gpos | 25 |
19 | q | 13.13 | 2737 | 2949 | 37,800,001 | 38,200,000 | gneg | |
19 | q | 13.2 | 2949 | 3101 | 38,200,001 | 42,900,000 | gpos | 25 |
19 | q | 13.31 | 3101 | 3193 | 42,900,001 | 44,700,000 | gneg | |
19 | q | 13.32 | 3193 | 3390 | 44,700,001 | 47,500,000 | gpos | 25 |
19 | q | 13.33 | 3390 | 3649 | 47,500,001 | 50,900,000 | gneg | |
19 | q | 13.41 | 3649 | 3770 | 50,900,001 | 53,100,000 | gpos | 25 |
19 | q | 13.42 | 3770 | 3938 | 53,100,001 | 55,800,000 | gneg | |
19 | q | 13.43 | 3938 | 4120 | 55,800,001 | 58,617,616 | gpos | 25 |
Referencias
- ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.
- ^ a b "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
- ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
- ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
- ^ "Statistics & Downloads for chromosome 19". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
- ^ "Chromosome 19: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
- ^ "Human chromosome 19: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
- ^ "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
- ^ "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
- ^ "Search results - 19[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
- ^ Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (2000). "2E4/Kaptin (KPTN)—a candidate gene for the hearing loss locus, DFNA4". Ann Hum Genet. 64 (3): 189–196. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.
- ^ a b Dean, L. (2005). "Ch. 5: The ABO blood group". Blood Groups and Red Cell Antigens. Bethesda MD: National Center for Biotechnology Information. NBK2261.
- ^ Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145–9. doi:10.1089/gte.1997.1.145. PMID 10464639.
- ^ "OMIM Entry - # 613845 - HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS". www.omim.org. Retrieved 20 January 2017.
- ^ Moss, K (Spring 2001). "Leber's Congenital Amaurosis". Texas Deafblind Outreach. Texas School for the Blind and Visually Impaired. Archived from the original on November 19, 2013.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
- ^ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
- ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ "p": Short arm; "q": Long arm.
- ^ For cytogenetic banding nomenclature, see article locus.
- ^ a b These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
- ^ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
- Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
- Human Proteome Project Launch website~ https://web.archive.org/web/20110726163128/http://www.hupo.org/research/hpp/HPP_legrain_sep_2010.pdf
enlaces externos
- National Institutes of Health. "Chromosome 19". Genetics Home Reference. Retrieved 2017-05-06.
- "Chromosome 19". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.