Chromosome 17
Chromosome 17 | |
---|---|
Features | |
Length (bp) | 83,257,441[1] |
No. of genes | 2,432[2] 2,653[3] |
Type | Autosome |
Centromere position | Submetacentric |
Complete gene lists | |
CCDS | ? |
HGNC | ? |
UniProt | ? |
NCBI | ? |
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.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 9%, with one estimate giving 2,432[2] genes, and the other estimate giving 2,653[3] genes.
Chromosome 17 contains the Homeobox B gene cluster.
Genes
The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:
- ABI3: encoding protein ABI gene family member 3
- AZI1: encoding protein 5-azacytidine-induced protein 1
- GGT6: encoding protein Gamma-glutamyltransferase 6
- RPL23A: encoding protein 60S ribosomal protein L23a
- SPACA3: Sperm acrosome membrane-associated protein 3
- Several CC chemokines: CCL1, CCL2, CCL3, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, and CCL23
q-arm
- GRB7: Growth factor Receptor-Bound protein 7 (17q12)
- RHBDF2: Rhomboid family member 2 (17q25.3)
- RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
- SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
- CBX1: chromobox homolog 1 (17q21.32)
- ACTG1: actin, gamma 1 (17q25)
- BRCA1: breast cancer 1, early onset (17q21)
- COL1A1: collagen, type I, alpha 1 (17q21.33)
- ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
- GALK1: galactokinase 1 (17q24)
- GFAP: glial fibrillary acidic protein (17q21)
- KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
- MAPT gene coding for encoding tau protein (17q21.1)
- NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
- NOG: Noggin protein (17q22)
- SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
- SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) [4] (17q11.2)
- TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)
- USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
- RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)
- NAGLU: N-acetyl glucosaminidase, Sanfilippo B syndrome (17q21.2)
p-arm
- SHBG: Sex hormone binding globulin (17p13.1)
- ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
- ASPA: aspartoacylase (Canavan disease) (17p13.3)
- CTNS: cystinosin, the lysosomal cystine transporter (17p13)
- FLCN: folliculin (17p11.2)
- MYO15A: myosin XVA (17p11.2)
- PMP22: peripheral myelin protein 22 (17p12)
- TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
- RAI1: retinoic acid induced 1 (17p11.2)
- USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)
Diseases and disorders
The following diseases are related to genes on chromosome 17:
- 17Q21.31 Microdeletion Syndrome
- Alexander disease
- Andersen-Tawil syndrome
- Birt-Hogg-Dubé syndrome
- Bladder cancer
- Breast cancer
- Bruck syndrome
- Camptomelic dysplasia
- Canavan disease
- Cerebroretinal microangiopathy with calcifications and cysts
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 1
- Corticobasal degeneration
- Cystinosis
- Depression
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- Epidermodysplasia verruciformis
- Galactosemia
- Glycogen storage disease type II (Pompe disease)
- Hereditary neuropathy with liability to pressure palsies
- Howel–Evans syndrome
- Li-Fraumeni syndrome
- Maturity onset diabetes of the young type 5
- Miller-Dieker syndrome
- Multiple synostoses syndrome
- Neurofibromatosis type I
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal dominant
- Nonsyndromic deafness, autosomal recessive
- Osteogenesis imperfecta
- Osteogenesis Imperfecta, Type I
- Osteogenesis Imperfecta, Type II
- Osteogenesis Imperfecta, Type III
- Osteogenesis Imperfecta, Type IV
- Potocki-Lupski syndrome
- Proximal symphalangism
- Smith-Magenis syndrome
- Usher syndrome
- Very long-chain acyl-coenzyme A dehydrogenase deficiency
- Aneurysmal bone cyst
- Obsessive Compulsive Disorder
Cytogenetic band
Chr. | Arm[11] | Band[12] | ISCN start[13] |
ISCN stop[13] |
Basepair start |
Basepair stop |
Stain[14] | Density |
---|---|---|---|---|---|---|---|---|
17 | p | 13.3 | 0 | 385 | 1 | 3,400,000 | gneg | |
17 | p | 13.2 | 385 | 550 | 3,400,001 | 6,500,000 | gpos | 50 |
17 | p | 13.1 | 550 | 784 | 6,500,001 | 10,800,000 | gneg | |
17 | p | 12 | 784 | 990 | 10,800,001 | 16,100,000 | gpos | 75 |
17 | p | 11.2 | 990 | 1499 | 16,100,001 | 22,700,000 | gneg | |
17 | p | 11.1 | 1499 | 1664 | 22,700,001 | 25,100,000 | acen | |
17 | q | 11.1 | 1664 | 1815 | 25,100,001 | 27,400,000 | acen | |
17 | q | 11.2 | 1815 | 2104 | 27,400,001 | 33,500,000 | gneg | |
17 | q | 12 | 2104 | 2255 | 33,500,001 | 39,800,000 | gpos | 50 |
17 | q | 21.1 | 2255 | 2461 | 39,800,001 | 40,200,000 | gneg | |
17 | q | 21.2 | 2461 | 2599 | 40,200,001 | 42,800,000 | gpos | 25 |
17 | q | 21.31 | 2599 | 2874 | 42,800,001 | 46,800,000 | gneg | |
17 | q | 21.32 | 2874 | 3025 | 46,800,001 | 49,300,000 | gpos | 25 |
17 | q | 21.33 | 3025 | 3176 | 49,300,001 | 52,100,000 | gneg | |
17 | q | 22 | 3176 | 3383 | 52,100,001 | 59,500,000 | gpos | 75 |
17 | q | 23.1 | 3383 | 3451 | 59,500,001 | 60,200,000 | gneg | |
17 | q | 23.2 | 3451 | 3658 | 60,200,001 | 63,100,000 | gpos | 75 |
17 | q | 23.3 | 3658 | 3781 | 63,100,001 | 64,600,000 | gneg | |
17 | q | 24.1 | 3781 | 3850 | 64,600,001 | 66,200,000 | gpos | 50 |
17 | q | 24.2 | 3850 | 4001 | 66,200,001 | 69,100,000 | gneg | |
17 | q | 24.3 | 4001 | 4166 | 69,100,001 | 72,900,000 | gpos | 75 |
17 | q | 25.1 | 4166 | 4400 | 72,900,001 | 76,800,000 | gneg | |
17 | q | 25.2 | 4400 | 4510 | 76,800,001 | 77,200,000 | gpos | 25 |
17 | q | 25.3 | 4510 | 4950 | 77,200,001 | 83,257,441 | gneg |
References
- ^ "Human Genome Assembly GRCh38.p10 - Genome Reference Consortium". National Center for Biotechnology Information. 2017-01-06. Retrieved 2017-03-04.
- ^ a b "Homo sapiens (human) Chromosome 17". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved January 20, 2017.
- ^ a b "Homo sapiens: Chromosome summary: Chromosome 17:1-83257441". Wellcome Trust Sanger Institute. Vega Genome Browser 58. Retrieved January 20, 2017.
- ^ "Obsessive Compulsive Disorder". An Online Catalog of Human Genes and Genetic Disorders.
- ^ 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.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. 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" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965.
- ^ 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.
- 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 http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN4A