From Wikipedia, the free encyclopedia
Human chromosome
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 84 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 ). The most conservative estimate, from
CCDS , represents a lower bound on the total number of human protein-coding genes.
[4]
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.
2700099C18Rik : encoding
protein NDC80 homolog, kinetochore complex component pseudogene
ABI3 : encoding
protein ABI gene family member 3
ABR : encoding protein Abr, rhogef and gtpase activating protein
ARHGAP44 : encoding
protein Rho GTPase activating protein 44
AZI1 : encoding
protein 5-azacytidine-induced protein 1
BRCA1P1 : encoding protein BRCA1 pseudogene 1
BCPR encoding
protein Breast cancer-related regulator of TP53
C17orf98 : encoding protein C17orf98
C1QL1 : encoding
protein complement component 1, q subcomponent-like 1
CCDC144A : encoding
protein Coiled-coil domain-containing protein 144A
CCDC40 : encoding
protein Coiled-coil domain containing 40
CCDC47 : encoding
protein CCDC47
CCDC57 : encoding
protein Coiled-coil domain-containing protein 57
CLUH : encoding
protein Clustered mitochondria (cluA/CLU1) homolog
CTDNEP1 : encoding
protein CTD nuclear envelope phosphatase 1
DEL17P13.1 encoding
protein Chromosome 17p13.1 deletion syndrome
DHX8 : encoding protein DEAH-box helicase 8
DPH1 encoding
protein Diphthamide biosynthesis protein 1
DUP17Q12 : encoding
protein Chromosome 17q12 duplication syndrome
FAM20A : encoding
protein FAM20A
GAS7 : encoding protein Growth arrest-specific protein 7
GGT6 : encoding
protein Gamma-glutamyltransferase 6
HN1 : encoding
protein Hematological and neurological expressed 1 protein
IBD22 encoding
protein Inflammatory bowel disease-22
KRTAP locus: encoding ca. 40 Keratin-associated proteins
LINC00511 : encoding
protein Long intergenic non-protein coding RNA 511
LINC00674 encoding
protein Long intergenic non-protein coding RNA 674
LRRC37A encoding
protein Leucine rich repeat containing 37A
LRRC48 : encoding
protein Leucine-rich repeat-containing protein 48
MBTD1 : encoding protein Malignant Brain Tumor domain containing 1
METTL16 : encoding protein Methyltransferase like 16
MGAT5B : encoding
enzyme Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
MIR195 : encoding protein MicroRNA 195
MIR4521 : encoding
protein MicroRNA 4521
MLLT6 : encoding protein MLLT6, PHD finger containing
MSI2 : encoding
protein Musashi RNA binding protein 2
MYBBP1A : encoding
protein Myb-binding protein 1A
MYCBPAP : encoding protein MYCBP associated protein
NBP : encoding
peptide Neuropeptide B
NME1-NME2 :
NXPH3 : encoding
protein Neurexophilin-3
OMG : encoding
protein Oligodendrocyte-myelin glycoprotein
Ormdl sphingolipid biosynthesis regulator 3 : encoding
protein ORMDL sphingolipid biosynthesis regulator 3
PLXDC1 : encoding
protein Plexin domain-containing protein 1
PNPO : encoding
enzyme Pyridoxine-5'-phosphate oxidase
PPP1R27 : encoding
protein Protein phosphatase 1, regulatory subunit 27
PRCD : encoding
protein Progressive rod-cone degeneration
PRPSAP2 : encoding
protein Phosphoribosyl pyrophosphate synthetase-associated protein 2
PRR29 : encoding protein
Proline-rich protein 29
QRICH2 : encoding
protein Glutamine-rich protein 2
RAP1GAP2 : encoding
protein RAP1 GTPase activating protein 2
RFFL : encoding
enzyme E3 ubiquitin-protein ligase rififylin
RNMTL1 : encoding
enzyme RNA methyltransferase-like protein 1
RPAIN : encoding
protein RPA-interacting protein
RPL23A : encoding
protein 60S ribosomal protein L23a
SC65 : encoding
protein Synaptonemal complex protein SC65
SCPEP1 : encoding
enzyme Retinoid-inducible serine carboxypeptidase
SEBOX : encoding
protein SEBOX homeobox
SECTM1 : encoding
protein Secreted and transmembrane protein 1
SEPTIN4 : encoding Septin4
SKA2 : encoding
protein Spindle and Kinetochore Associated
SLC39A11 : encoding protein Solute carrier family 39 member 11
SLFN11 : encoding
protein Schlafen family member 11
SLFN12 : encoding
protein Schlafen family member 12
SNF8 : encoding
protein Vacuolar-sorting protein SNF8
SPACA3 : Sperm acrosome membrane-associated
protein 3
SPAG5 : encoding
protein Sperm-associated antigen 5
ST6GALNAC1 : encoding
enzyme Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
ST6GALNAC2 : encoding
enzyme Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
STH : encoding
protein Saitohin
SUZ12P1 encoding
protein SUZ12 polycomb repressive complex 2 subunit pseudogene 1
TAC4 : encoding
protein Tachykinin-4
TBC1D3 : encoding
protein TBC1 domain family member 3E/3F
TMEM106A : encoding
protein Transmembrane protein 106A
TMEM98 : encoding
protein Transmembrane protein 98
TNFSF12-TNFSF13 :
TOM1L1 : encoding
protein TOM1-like protein 1
TOM1L2 : encoding
protein TOM1-like protein 2
TRIM65 : encoding
protein Tripartite motif containing 65
TRPV1 : encoding
protein Transient receptor potential cation channel subfamily V member 1
TSEN54 : encoding
protein TRNA splicing endonuclease subunit 54
TTYH2 : encoding
protein Tweety family member 2
VAT1 : encoding
protein Synaptic vesicle membrane protein VAT-1 homolog
VPS25 : encoding
protein Vacuolar protein-sorting-associated protein 25
VPS53 : encoding
protein Vacuolar protein sorting 53 homolog (S. cerevisiae)
YBX2 : encoding
protein Y-box-binding protein 2
ZNF207 : encoding
protein Zinc finger protein 207
ZNF830 : encoding
protein Zinc finger protein 830
Several
CC chemokines :
CCL1 ,
CCL2 ,
CCL3 ,
CCL4 ,
CCL5 ,
CCL7 ,
CCL8 ,
CCL11 ,
CCL13 ,
CCL14 ,
CCL15 ,
CCL16 ,
CCL18 , and
CCL23
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)
[11] (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)
WT4 : encoding protein Wilms tumor-4
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 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,
[12] 550
[13] and 850
[3] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[14] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[15]
G-bands of human chromosome 17 in resolution 850 bphs
[16]
Chr.
Arm
[17]
Band
[18]
ISCN start
[19]
ISCN stop
[19]
Basepair start
Basepair stop
Stain
[20]
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
^
a
b
"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 .
^ 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 17" . HUGO Gene Nomenclature Committee . 2017-05-12. Retrieved 2017-05-19 .
^
"Chromosome 17: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .
^
"Human chromosome 17: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .
^
"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 .
^
"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 .
^
"Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .
^
"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.
^ 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" . 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) . pp. 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.
External links
National Institutes of Health.
"Chromosome 17" . Genetics Home Reference . Archived from
the original on 2007-06-30. Retrieved 2017-05-06 .
"Chromosome 17" . Human Genome Project Information Archive 1990–2003 . Retrieved 2017-05-06 .
Basic concepts Types Processes and evolution Structures
See also