Chromosome 17 (human)
Encyclopedia
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 2.5 and 3 % of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 17 likely contains between 1,200 and 1,500 genes. It also contains the Homeobox
Homeobox
A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of anatomical development in animals, fungi and plants.- Discovery :...
B gene cluster.
Genes
The following are some of the genes located on chromosome 17:- ACADVLACADVLACADVL is a gene associated with very long-chain acyl-coenzyme A dehydrogenase deficiency.-External links:*...
: acyl-coenzyme A dehydrogenase, very long chain - ACTG1ACTG1Actin, gamma 1, also known as ACTG1, is a gene.-Interactions:ACTG1 has been shown to interact with TMSB4X and CAP1.-Further reading:...
: actin, gamma 1 - ASPA: aspartoacylase (Canavan disease)
- BRCA1BRCA1BRCA1 is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA. The first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990...
: breast cancer 1, early onset - CBX1CBX1Chromobox protein homolog 1 is a protein that in humans is encoded by the CBX1 gene.-Interactions:CBX1 has been shown to interact with C11orf30, CBX5, CBX3 and SUV39H1.-Further reading:...
: chromobox homolog 1 - COL1A1COL1A1Collagen, type I, alpha 1, also known as COL1A1, is a human gene that encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage....
: collagen, type I, alpha 1 - CTNSCTNS (gene)Cystinosin is a protein that in humans is encoded by the CTNS gene.-External links:*...
: cystinosin, the lysosomal cystine transporter - ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- FLCN: folliculin
- GALK1: galactokinase 1
- GFAPGlial fibrillary acidic proteinGlial fibrillary acidic protein is an intermediate filament protein that was thought to be specific for astrocytes in the central nervous system . Later, it was shown that GFAP is also expressed by other cell types in CNS, including ependymal cells...
: glial fibrillary acidic protein - KCNJ2KCNJ2The Kir2.1 inward-rectifier potassium ion channel is encoded by the gene.- Clinical significance :A defect in this gene is associated with Andersen-Tawil syndrome.A mutation in the KCNJ2 gene has also been shown to cause short QT syndrome....
: potassium inwardly-rectifying channel, subfamily J, member 2 - MYO15AMYO15AMyosin-XV is a protein that in humans is encoded by the MYO15A gene.-Further reading:...
: myosin XVA - NF1Neurofibromin 1Neurofibromin 1 also known as neurofibromatosis-related protein NF-1 is a protein that in humans is encoded by the NF1 gene. Mutations in the NF1 gene are associated with neurofibromatosis type I .- Function :NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the...
: neurofibromin 1 (neurofibromatosisNeurofibromatosisNeurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...
, von Recklinghausen disease, Watson disease) - PMP22: peripheral myelin protein 22
- S6KP70-S6 Kinase 1Ribosomal protein S6 kinase beta-1 is an enzyme that in humans is encoded by the RPS6KB1 gene.-Interactions:P70-S6 Kinase 1 has been shown to interact with CSNK2B, EIF3B, COASY, KIAA1303, POLDIP3, Mammalian target of rapamycin, PPP2R2A, RBX1 and Ubiquitin C.-References:...
: Ribosomal protein S6-kinase - SHBG: Sex hormone binding globulin
- SLC6A4: Serotonin transporterSerotonin transporterThe serotonin transporter is a monoamine transporter protein.This protein is an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. This transport of serotonin by the SERT protein terminates the action of serotonin and recycles it...
- TMC6TMC6Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi...
and TMC8TMC8Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.-Function:The protein encoded by this gene is an integral membrane protein that localize to the endoplasmic reticulum and is predicted to form transmembrane channels...
: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) - TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor geneTumor suppressor geneA tumor suppressor gene, or anti-oncogene, is a gene that protects a cell from one step on the path to cancer. When this gene is mutated to cause a loss or reduction in its function, the cell can progress to cancer, usually in combination with other genetic changes.-Two-hit hypothesis:Unlike...
- USH1GUSH1GUsher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.-External Links:* -Further reading:...
: Usher syndrome 1G (autosomal recessive) - RAI1RAI1RAI1 is a transcription factor associated with Smith-Magenis syndrome. It is known as retinoic acid induced 1.-External links:*...
: retinoic acid induced 1 - RAR-alpha: Retinoic acid receptorRetinoic acid receptorThe retinoic acid receptor is a type of nuclear receptor that is activated by both all-trans retinoic acid and 9-cis retinoic acid. There are three retinoic acid receptors , RAR-alpha, RAR-beta, and RAR-gamma, encoded by the , , genes, respectively...
Alpha (involved in t(15,17) with PML) - GRB7GRB7Growth factor receptor-bound protein 7, also known as GRB7, is a protein which in humans is encoded by the GRB7 gene.- Function :The product of this gene belongs to a small family of adaptor proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules...
: Growth factor Receptor-Bound protein 7 - Several CC chemokines: CCL1CCL1Chemokine ligand 1 is a small glycoprotein secreted by activated T cells that belongs to a family inflammatory cytokines known as chemokines. CCL1 attracts monocytes, NK cells, and immature B cells and dendritic cells by interacting with a cell surface chemokine receptor called CCR8. This...
, CCL2CCL2For the ICAO airport code see Candle Lake Airpark, for the diradical compound see Dichlorocarbene.Chemokine ligand 2 also known as monocyte chemotactic protein-1 or small inducible cytokine A2 is a protein that in humans is encoded by the CCL2 gene. CCL2 is a small cytokine belonging to the CC...
, CCL3CCL3Chemokine ligand 3 is a protein that in humans is encoded by the CCL3 gene.-Further reading:...
, CCL4CCL4Chemokine ligand 4, also known as CCL4, is a protein which in humans is encoded by the CCL4 gene.- Function :CCL4, also known as Macrophage inflammatory protein-1β is a CC chemokine with specificity for CCR5 receptors...
, CCL5, CCL7CCL7Chemokine ligand 7 is a small cytokine known as a chemokine that was previously called monocyte-specific chemokine 3 . Due to CCL7 possessing two adjacent N-terminal cysteine residues in its mature protein, it is classified among the subfamily of chemokines known as CC chemokines. CCL7...
, CCL8CCL8Chemokine ligand 8, also known as monocyte chemoattractant protein 2 , is a protein that in humans is encoded by the CCL8 gene....
, CCL11CCL11Chemokine ligand 11 is a small cytokine belonging to the CC chemokine family that is also known as eotaxin-1. CCL11 selectively recruits eosinophils by inducing their chemotaxis, and therefore, is implicated in allergic responses. The effects of CCL11 are mediated by its binding to a...
, CCL13CCL13Chemokine ligand 13 is a small cytokine belonging to the CC chemokine family. Its gene is located on human chromosome 17 within a large cluster of other CC chemokines. CCL13 induces chemotaxis in monocytes, eosinophils, T lymphocytes, and basophils by binding cell surface G-protein linked...
, CCL14CCL14Chemokine ligand 14 is a small cytokine belonging to the CC chemokine family. It is also commonly known as HCC-1. It is produced as a protein precursor that is processed to generate a mature active protein containing 74 amino acids that and is 46% identical in amino acid composition to CCL3 and...
, CCL15CCL15Chemokine ligand 15 is a small cytokine belonging to the CC chemokine family that is also known as leukotactin-1, MIP5 and HCC-2. CCL15 is expressed in liver, small intestine, colon, and in certain leukocytes and macrophages of the lung...
, CCL16CCL16Chemokine ligand 16 is a small cytokine belonging to the CC chemokine family that is known under several pseudonyms, including Liver-expressed chemokine and Monotactin-1 . This chemokine is expressed by the liver, thymus, and spleen and is chemoattractive for monocytes and lymphocytes...
, CCL18CCL18Chemokine ligand 18 is a small cytokine belonging to the CC chemokine family that was previously called PARC . CCL18 is approximately 60% identical in amino acid sequence to CCL3...
, and CCL23CCL23Chemokine ligand 23 is a small cytokine belonging to the CC chemokine family that is also known as Macrophage inflammatory protein 3 and Myeloid progenitor inhibitory factor 1 . CCL23 is predominantly expressed in lung and liver tissue, but is also found in bone marrow and placenta. It is also...
Diseases & disorders
The following diseases are related to genes on chromosome 17:- Alexander diseaseAlexander diseaseAlexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
- Andersen-Tawil syndromeAndersen-Tawil syndromeAndersen–Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern.- Presentation :...
- Birt-Hogg-Dubé syndromeBirt-Hogg-Dubé syndromeBirt–Hogg–Dubé syndrome is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles. The disorder has been reported in more than 100 families worldwide, and it is inherited in an autosomal dominant pattern...
- Bladder cancerBladder cancerBladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
- Breast cancerBreast cancerBreast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
- Camptomelic dysplasiaCamptomelic dysplasiaCamptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur and tibia, commonly seen in this disorder....
- Canavan diseaseCanavan diseaseCanavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
- Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth diseaseCharcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
- Charcot-Marie-Tooth disease, type 1
- Corticobasal degenerationCorticobasal degenerationCorticobasal degeneration or Corticobasal Ganglionic Degeneration is a rare progressive neurodegenerative disease involving the cerebral cortex and the basal ganglia. It is characterized by marked disorders in movement and cognitive dysfunction...
- CystinosisCystinosisCystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group...
- Ehlers-Danlos syndromeEhlers-Danlos syndromeEhlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, classical type
- Epidermodysplasia verruciformisEpidermodysplasia verruciformisEpidermodysplasia verruciformis is an extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to human papillomaviruses of the skin...
- GalactosemiaGalactosemiaGalactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
- Glycogen storage disease type IIGlycogen storage disease type IIGlycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...
(PompeJohann PompeJoannes Cassianus Pompe was a Dutch pathologist.He characterized the condition now known as Glycogen storage disease type II in 1932. It is sometimes referred to by his name.He was executed by the German army in April 1945 for espionage....
disease) - Hereditary neuropathy with liability to pressure palsies
- Li-Fraumeni syndromeLi-Fraumeni syndromeLi-Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome. Li-Fraumeni syndrome greatly increases susceptibility to cancer...
- Maturity onset diabetes of the youngMaturity onset diabetes of the youngMaturity onset diabetes of the young refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant gene disrupting insulin production...
type 5 - Miller-Dieker syndromeMiller-Dieker syndromeMiller–Dieker syndrome , also called Miller–Dieker lissencephaly syndrome and chromosome 17p13.3 deletion syndrome, is an autosomal dominant congenital disorder characterized by a developmental defect of the brain, caused by incomplete neuronal migration.This syndrome should not be confused with...
- Neurofibromatosis type INeurofibromatosis type INeurofibromatosis type I , formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene...
- Nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- Nonsyndromic deafness, autosomal dominant
- Nonsyndromic deafness, autosomal recessive
- Osteogenesis imperfectaOsteogenesis imperfectaOsteogenesis imperfecta is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen...
- Osteogenesis Imperfecta, Type I
- Osteogenesis Imperfecta, Type II
- Osteogenesis Imperfecta, Type III
- Osteogenesis Imperfecta, Type IV
- Smith-Magenis syndromeSmith-Magenis syndromeSmith–Magenis Syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems...
- Usher syndromeUsher syndromeUsher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
- Usher syndrome type I
- Very long-chain acyl-coenzyme A dehydrogenase deficiencyVery long-chain acyl-coenzyme A dehydrogenase deficiencyVery long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food....