Human chromosome
Chromosome 17 is one of the 23 pairs ofchromosomes inhumans . People normally have two copies of this chromosome. Chromosome 17 spans more than 84 millionbase pairs (the building material ofDNA ) and represents between 2.5 and 3% of the total DNA incells .
Chromosome 17 contains theHomeobox Bgene cluster .
The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches togenome annotation their predictions of thenumber of genes on each chromosome varies (for technical details, seegene prediction ). The most conservative estimate, fromCCDS , represents a lower bound on the total number of human protein-coding genes.[ 4]
The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right.
ABI3 : encodingprotein ABI gene family member 3ABR : encoding protein Abr, rhogef and gtpase activating proteinARHGAP44 : encodingprotein Rho GTPase activating protein 44AZI1 : encodingprotein 5-azacytidine-induced protein 1BRCA1P1 : BRCA1 pseudogene 1C17orf67 : encoding protein Chromosome 17 open reading frame 67C1QL1 : encodingprotein complement component 1, q subcomponent-like 1CCDC144A : encodingprotein Coiled-coil domain-containing protein 144ACCDC40 : encodingprotein Coiled-coil domain containing 40CCDC47 : encodingprotein PAT complex subunit CCDC47CCDC57 : encodingprotein Coiled-coil domain-containing protein 57CCL3L3 : encoding protein C-C motif chemokine ligand 3 like 3CLUH : encodingprotein Clustered mitochondria (cluA/CLU1) homologCTAA2 : encoding protein Cataract, anterior polar 2CTDNEP1 : encodingprotein CTD nuclear envelope phosphatase 1CUEDC1 : encoding protein Cue domain containing 1DHX8 : encoding protein DEAH-box helicase 8DPH1 encodingprotein Diphthamide biosynthesis protein 1DRC3 encodingprotein Dynein regulatory complex subunit 3FAM106A : encoding protein Family with sequence similarity 106 member AFAM20A : encodingprotein FAM20AGAS7 : encoding protein Growth arrest-specific protein 7GGT6 : encodingprotein Gamma-glutamyltransferase 6HIGD1B : encoding protein HIG1 hypoxia inducible domain family member 1BINCA1 : encoding protein Inhibitor of cdk, cyclin a1 interacting protein 1JPT1 : encoding protein Jupiter microtubule associated homolog 1KRTAP locus: encoding ca. 40 Keratin-associated proteinsLINC00511 : producing Long intergenic non-protein coding RNA 511LINC00674 : producing Long intergenic non-protein coding RNA 674LINC00483 : encoding protein Long intergenic non-protein coding rna 483LRRC37A encodingprotein Leucine rich repeat containing 37AMAPT-AS1 : encoding noncoding RNA MAPT antisense RNA 1MBTD1 : encoding protein Malignant Brain Tumor domain containing 1METTL16 : encoding protein Methyltransferase like 16MGAT5B : encodingenzyme Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase BMIR1250 : encoding protein MicroRNA 1250MIR195 : producing MicroRNA 195MIR4521 : producing MicroRNA 4521MIR4727 : producing MicroRNA 4727MLLT6 : encoding protein MLLT6, PHD finger containingMRM3 : encoding enzyme rRNA methyltransferase 3, mitochondrialMSI2 : encodingprotein Musashi RNA binding protein 2MTRNR2L1 : encoding protein Mt-rnr2-like 1MYBBP1A : encodingprotein Myb-binding protein 1AMYCBPAP : encoding protein MYCBP associated proteinNBP : encodingpeptide Neuropeptide BNME1-NME2 :NXPH3 : encodingprotein Neurexophilin-3OMG : encodingprotein Oligodendrocyte-myelin glycoproteinOrmdl sphingolipid biosynthesis regulator 3 : encodingprotein ORMDL sphingolipid biosynthesis regulator 3PLXDC1 : encodingprotein Plexin domain-containing protein 1PNPO : encodingenzyme Pyridoxine-5'-phosphate oxidasePPP1R27 : encodingprotein Protein phosphatase 1, regulatory subunit 27PRAL : encoding protein P53 regulation associated lncRNAPRCD : encodingprotein Progressive rod-cone degenerationPRPSAP2 : encodingprotein Phosphoribosyl pyrophosphate synthetase-associated protein 2PRR11 : encoding protein Proline rich 11PRR29 : encoding protein Proline-rich protein 29QRICH2 : encodingprotein Glutamine-rich protein 2RAP1GAP2 : encodingprotein RAP1 GTPase activating protein 2RETREG3 : encodingprotein Reticulophagy regulator 3RFFL : encodingenzyme E3 ubiquitin-protein ligase rififylinRPAIN : encodingprotein RPA-interacting proteinSC65 : encodingprotein Synaptonemal complex protein SC65SCIMP : encoding protein Slp adaptor and csk interacting membrane proteinSCPEP1 : encodingenzyme Retinoid-inducible serine carboxypeptidaseSEBOX : encodingprotein SEBOX homeoboxSECTM1 : encodingprotein Secreted and transmembrane protein 1SEPTIN4 : encoding Septin4SKA2 : encodingprotein Spindle and Kinetochore AssociatedSLC39A11 : encoding protein Solute carrier family 39 member 11SLFN13 : encoding protein Schlafen family member 13SNF8 : encodingprotein Vacuolar-sorting protein SNF8SPACA3 : Sperm acrosome membrane-associatedprotein 3SPAG5 : encodingprotein Sperm-associated antigen 5SPMAP1 : encoding protein Sperm microtubule associated protein 1ST6GALNAC1 : encodingenzyme Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1ST6GALNAC2 : encodingenzyme Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2STH : encodingprotein SaitohinTAC4 : encodingprotein Tachykinin-4TBC1D3 : encodingprotein TBC1 domain family member 3E/3FTMEM106A : encodingprotein Transmembrane protein 106ATMEM94 : encoding protein Transmembrane protein 94TMEM98 : encodingprotein Transmembrane protein 98TNFSF12-TNFSF13 :TOM1L1 : encodingprotein TOM1-like protein 1TOM1L2 : encodingprotein TOM1-like protein 2TRIM65 : encodingprotein Tripartite motif containing 65TRPV1 : encodingprotein Transient receptor potential cation channel subfamily V member 1TSEN54 : encodingprotein TRNA splicing endonuclease subunit 54TTYH2 : encodingprotein Tweety family member 2VAT1 : encodingprotein Synaptic vesicle membrane protein VAT-1 homologVCF1 : encoding protein VCF1VEZF1 : encoding protein Vascular endothelial zinc finger 1VPS25 : encodingprotein Vacuolar protein-sorting-associated protein 25VPS53 : encodingprotein Vacuolar protein sorting 53 homolog (S. cerevisiae)WFDC21P : encoding protein WAP four-disulfide core domain 21, pseudogeneYBX2 : encodingprotein Y-box-binding protein 2ZNF207 : encodingprotein Zinc finger protein 207ZNF830 : encodingprotein Zinc finger protein 830Groups of similar genes:
60S ribosomal proteins:RPL19 ,RPL23 ,RPL23A ,RPL26 , andRPL38 ABC transporters , subfamilyABCA :ABCA5 , ABCA6,ABCA8 ,ABCA9 ,ABCA10 Arachidonate lipoxygenases :ALOX12 ,ALOX12B ,ALOX15 ,ALOX15B ,ALOXE3 Amine oxidases, copper containing :AOC1 ,AOC2 ,AOC3 Voltage-dependent calcium channel subunits:CACNA1G ,CACNB1 ,CACNG1 ,CACNG4 , CACNG5SeveralCC chemokines :CCL1 ,CCL2 ,CCL3 ,CCL4 ,CCL5 ,CCL7 ,CCL8 ,CCL11 ,CCL13 ,CCL14 ,CCL15 ,CCL16 ,CCL18 , andCCL23 CD300 family:CD300A ,CD300C , CD300E,CD300LB , CD300LD,CD300LF , CD300LG DEAD box helicases : DDX2A (EIF4A1 ),DDX5 ,DDX42 , DDX48 (EIF4A3 ),DDX52 FOX (forkhead box) proteins :FOXJ1 ,FOXK2 ,FOXN1 Homeobox B genes:HOXB1 ,HOXB2 ,HOXB3 ,HOXB4 ,HOXB5 ,HOXB6 ,HOXB7 ,HOXB8 ,HOXB9 ,HOXB13 Integrin subunits:ITGA2B ,ITGA3 ,ITGAE ,ITGB3 ,ITGB4 Potassium channel subunits:KCNAB3 ,KCNH4 ,KCNH6 ,KCNJ2 ,KCNJ12 ,KCNJ16 ,KCNJ18 Kinesins :KIF1C , KIF2B,KIF18B ,KIF19 Type I keratins (acidic):KRT9 ,KRT10 ,KRT12 ,KRT13 ,KRT14 ,KRT15 ,KRT16 ,KRT17 ,KRT19 ,KRT20 ,KRT23 ,KRT24 ,KRT25 ,KRT26 ,KRT27 ,KRT28 ,KRT31 ,KRT32 ,KRT33A ,KRT33B ,KRT34 ,KRT35 ,KRT36 ,KRT37 ,KRT38 ,KRT39 , andKRT40 Mitogen-activated protein kinase kinases :MAP2K3 ,MAP2K4 ,MAP2K6 Mediator complex subunits:MED1 ,MED9 ,MED11 ,MED13 ,MED24 ,MED31 Myosins :MYH1 ,MYH2 ,MYH3 ,MYH4 ,MYH8 ,MYH10 ,MYH13 ,MYL4 ,MYO1C , MYO1D,MYO15A , MYO15B,MYO18A , MYO19Olfactory receptors :OR1A1 ,OR1A2 ,OR1D2 ,OR1D4 ,OR1D5 ,OR1E1 ,OR1E2 ,OR1E3 ,OR1G1 ,OR3A1 ,OR3A2 ,OR3A3 ,OR3A4 ,OR4D1 ,OR4D2 Proteasome subunits:PSMB3 ,PSMB6 ,PSMC5 ,PSMD3 ,PSMD11 ,PSMD12 ,PSME3 Rab family :RAB5C ,RAB34 ,RAB37 , RAB40BRING finger proteins :RNF43 , RNF112,RNF135 ,RNF157 ,RNF167 ,RNF213 , RNF222,RNF227 Schlafen family:SLFN5 ,SLFN11 ,SLFN12 ,SLFN12L ,SLFN13 ,SLFN14 STAT proteins :STAT3 ,STAT5A ,STAT5B Tubulins :TUBD1 ,TUBG1 ,TUBG2 Ubiquitin-conjugating enzymes :UBE2G1 ,UBE2O ,UBE2Z Ubiquitin-specific proteases :USP6 ,USP22 , USP32,USP36 , USP43The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:
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 toAneurysmal 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)NSRP1 : 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 toObsessive Compulsive Disorder (OCD)[ 11] 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 orRAR-alpha :Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21) Type I keratin cluster (17q21.2)NAGLU : N-acetyl glucosaminidase, Sanfilippo B syndrome (17q21.2)SLC4A1 : Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)MAPT gene coding for encodingtau protein (17q21.31)CBX1 : chromobox homolog 1 (17q21.32)HOXB cluster (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 orS6K : 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)RHBDF2 : Rhomboid family member 2 (17q25.3)TMC6 andTMC8 : Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)Diseases and disorders [ edit ] Inactivating PH mutation in either theEVER1 orEVER2 genes, which are located adjacent to one another on chromosome 17 causesEpidermodysplasia verruciformis . The following diseases are related to genes on chromosome 17:
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,
[ 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[ 19] ISCN[ 19] Basepair Basepair Stain[ 20] Density 17 p 13.3 0 385 gneg 17 p 13.2 385 550 gpos 50 17 p 13.1 550 784 gneg 17 p 12 784 990 gpos 75 17 p 11.2 990 1499 gneg 17 p 11.1 1499 1664 acen 17 q 11.1 1664 1815 acen 17 q 11.2 1815 2104 gneg 17 q 12 2104 2255 gpos 50 17 q 21.1 2255 2461 gneg 17 q 21.2 2461 2599 gpos 25 17 q 21.31 2599 2874 gneg 17 q 21.32 2874 3025 gpos 25 17 q 21.33 3025 3176 gneg 17 q 22 3176 3383 gpos 75 17 q 23.1 3383 3451 gneg 17 q 23.2 3451 3658 gpos 75 17 q 23.3 3658 3781 gneg 17 q 24.1 3781 3850 gpos 50 17 q 24.2 3850 4001 gneg 17 q 24.3 4001 4166 gpos 75 17 q 25.1 4166 4400 gneg 17 q 25.2 4400 4510 gpos 25 17 q 25.3 4510 4950 gneg
^a b "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" .NCBI . CCDS Release 20 forHomo sapiens . 2016-09-08. Retrieved2017-05-28 .^ Tom Strachan; Andrew Read (2 April 2010).Human Molecular Genetics 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 & download files" .HUGO Gene Nomenclature Committee . 2024-10-04. Retrieved2024-10-06 .^ "Chromosome 17: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 17: entries, gene names and cross-references to MIM" .UniProt . 2024-10-02. Retrieved2024-10-06 .^ "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "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. Retrieved2017-05-20 .^ "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "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) 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 articlelocus . ^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 byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-rich and gene rich;acen Centromere .var : Variable region;stalk : Stalk.National Institutes of Health."Chromosome 17" .Genetics Home Reference . Archived fromthe original on 2007-06-30. Retrieved2017-05-06 . "Chromosome 17" .Human Genome Project Information Archive 1990–2003 . Retrieved2017-05-06 .
Basic Types Processes Structures
See also
