Chromosome 17

Chromosome 17
Human chromosome 17 pair after G-banding.
One is from mother, one is from father.
Chromosome 17 pair
in human male karyogram.
Features
Length (bp) 83,257,441 bp
(GRCh38)[1]
No. of genes 1,124 (CCDS)[2]
Type Autosome
Centromere position Submetacentric[3]
(25.1 Mbp[4])
Complete gene lists
CCDS Gene list
HGNC Gene list
UniProt Gene list
NCBI Gene list
External map viewers
Ensembl Chromosome 17
Entrez Chromosome 17
NCBI Chromosome 17
UCSC Chromosome 17
Full DNA sequences
RefSeq NC_000017 (FASTA)
GenBank CM000679 (FASTA)

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells.

Chromosome 17 contains the Homeobox B gene cluster.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5]

Estimated byProtein-coding genesNon-coding RNA genesPseudogenesSourceRelease date
CCDS1,124-- [2] 2016-09-08
HGNC1,132325458 [6] 2017-05-12
Ensembl1,1841,199535 [7] 2017-03-29
UniProt1,169-- [8] 2018-02-28
NCBI1,199757566 [9][10][11] 2017-05-19

Gene list

The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right.


The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:

p-arm

  • FLCN: folliculin (17p11.2)
  • MYO15A: myosin XVA (17p11.2)
  • RAI1: retinoic acid induced 1 (17p11.2)
  • PMP22: peripheral myelin protein 22 (17p12)
  • CTNS: cystinosin, the lysosomal cystine transporter (17p13)
  • USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)
  • ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
  • SHBG: Sex hormone binding globulin (17p13.1)
  • TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
  • ASPA: aspartoacylase (Canavan disease) (17p13.3)
  • GLOD4: glyoxalase domain containing 4 (17p13.3)

q-arm

  • CCDC55: Coiled-coil domain-containing protein 55 (17q11.2)
  • FLOT2: flotillin 2 (17q11.2)
  • NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
  • SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) [12] (17q11.2)
  • CCL4L1: C-C motif chemokine ligand 4 like 1 (17q12)
  • DDX52: DExD-box helicase 52 (17q12)
  • ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
  • GRB7: Growth factor Receptor-Bound protein 7 (17q12)
  • BRCA1: breast cancer 1, early onset (17q21)
  • GFAP: glial fibrillary acidic protein (17q21)
  • RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)
  • MAPT gene coding for encoding tau protein (17q21.1)
  • NAGLU: N-acetyl glucosaminidase, Sanfilippo B syndrome (17q21.2)
  • SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
  • CBX1: chromobox homolog 1 (17q21.32)
  • COL1A1: collagen, type I, alpha 1 (17q21.33)
  • LUC7L3: LUC7 like 3 pre-mRNA splicing factor (17q21.33)
  • NOG: Noggin protein (17q22)
  • RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
  • FTSJ3: FtsJ homolog 3 (17q23.3)
  • SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
  • GALK1: galactokinase 1 (17q24)
  • KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
  • ACTG1: actin, gamma 1 (17q25)
  • CDC42EP4: CDC42 effector protein 4 (17q25.1)
  • USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
  • CANT1: Calcium-activated nucleotidase 1 (17q25.3)
  • BIRC5: Survivin (17q25.3)
  • CHMP6: Charged multivesicular body protein 6 (17q25.3)
  • ENPP7: ectonucleotide pyrophosphatase/phosphodiesterase 7 (17q25.3)
  • EPR1: Effector cell peptidase receptor 1 (17q25.3
  • RHBDF2: Rhomboid family member 2 (17q25.3)
  • TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)

Diseases and disorders

Inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17 causes Epidermodysplasia verruciformis.

The following diseases are related to genes on chromosome 17:

Cytogenetic band

G-banding ideograms of human chromosome 17
G-banding ideogram of human chromosome 17 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
G-banding patterns of human chromosome 17 in three different resolutions (400,[13] 550[14] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[15] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[16]
G-bands of human chromosome 17 in resolution 850 bphs[17]
Chr. Arm[18] Band[19] ISCN
start[20]		 ISCN
stop[20]		 Basepair
start		 Basepair
stop		 Stain[21] Density
17p 13.3038513,400,000 gneg
17p 13.23855503,400,0016,500,000 gpos50
17p 13.15507846,500,00110,800,000 gneg
17p 1278499010,800,00116,100,000 gpos75
17p 11.2990149916,100,00122,700,000 gneg
17p 11.11499166422,700,00125,100,000 acen
17q 11.11664181525,100,00127,400,000 acen
17q 11.21815210427,400,00133,500,000 gneg
17q 122104225533,500,00139,800,000 gpos50
17q 21.12255246139,800,00140,200,000 gneg
17q 21.22461259940,200,00142,800,000 gpos25
17q 21.312599287442,800,00146,800,000 gneg
17q 21.322874302546,800,00149,300,000 gpos25
17q 21.333025317649,300,00152,100,000 gneg
17q 223176338352,100,00159,500,000 gpos75
17q 23.13383345159,500,00160,200,000 gneg
17q 23.23451365860,200,00163,100,000 gpos75
17q 23.33658378163,100,00164,600,000 gneg
17q 24.13781385064,600,00166,200,000 gpos50
17q 24.23850400166,200,00169,100,000 gneg
17q 24.34001416669,100,00172,900,000 gpos75
17q 25.14166440072,900,00176,800,000 gneg
17q 25.24400451076,800,00177,200,000 gpos25
17q 25.34510495077,200,00183,257,441 gneg

References

  1. ↑ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.
  2. 1 2 "Search results - 17[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.
  3. ↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  4. 1 2 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  5. ↑ 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.
  6. ↑ "Statistics & Downloads for chromosome 17". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
  7. ↑ "Chromosome 17: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  8. ↑ "Human chromosome 17: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
  9. ↑ "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  10. ↑ "Search results - 9[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.
  11. ↑ "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  12. ↑ "Obsessive Compulsive Disorder". An Online Catalog of Human Genes and Genetic Disorders.
  13. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  14. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  15. ↑ 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.
  16. ↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965.
  17. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  18. ↑ "p": Short arm; "q": Long arm.
  19. ↑ For cytogenetic banding nomenclature, see article locus.
  20. 1 2 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.
  21. ↑ 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.
  • Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357–81. doi:10.1089/gte.1998.2.357. PMID 10464617.
  • Gene Card Website https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN4A
  • National Institutes of Health. "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.
  • "Chromosome 17". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.
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