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Chromosome 5 (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 5 spans about 181 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 blocks 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 almost 6% 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....
. Chromosome 5 is one of the largest human chromosomes, yet has one of the lowest 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...
densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding
Noncoding DNA
In genetics, noncoding DNA describes components of an organism's DNA sequences that do not encode for protein sequences. In many eukaryotes, a large percentage of an organism's total genome size is noncoding DNA, although the amount of noncoding DNA, and the proportion of coding versus noncoding...
and syntenic
Synteny
In classical genetics, synteny describes the physical co-localization of genetic loci on the same chromosome within an individual or species. The concept is related to genetic linkage: Linkage between two loci is established by the observation of lower-than-expected recombination frequencies...
conservation with non-mammalian vertebrate
Vertebrate
Vertebrates are animals that are members of the subphylum Vertebrata . Vertebrates are the largest group of chordates, with currently about 58,000 species described. Vertebrates include the jawless fishes, bony fishes, sharks and rays, amphibians, reptiles, mammals, and birds...
s, suggesting they are functionally constrained.
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 5 likely contains between 900 and 1,300 genes.
Genes
The following are some of the genes located on chromosome 5:- ADAMTS2ADAMTS2A disintegrin and metalloproteinase with thrombospondin motifs 2 also known as procollagen I N-proteinase is an enzyme that in humans is encoded by the ADAMTS2 gene.- Gene :...
: ADAM metallopeptidase with thrombospondin type 1 motif, 2 - APCAPC (gene)Adenomatous polyposis coli also known as deleted in polyposis 2.5 is a protein that in humans is encoded by the APC gene. Mutations in the APC gene may result in colorectal cancer....
: adenomatosis polyposis coli - EGR1: early growth response protein 1
- DTDST: diastrophic dysplasia sulfate transporter
- ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
- FGFR4: fibroblast growth factor receptor 4
- GM2AGM2AGM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene.- Function :The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme β-hexosaminidase A...
: GM2 ganglioside activator - HEXBHEXBBeta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene.-Further reading:...
: hexosaminidase B (beta polypeptide) - MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
- MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
- MTRRMTRR (gene)Methionine synthase reductase, mitochondrial also known as MSR is an enzyme that in humans is encoded by the MTRR gene.- Function :...
: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase - NIPBLNIPBLNipped-B-like protein , also known as delangin or SCC2 homolog is a protein that in humans is encoded by the NIPBL gene.- Function :...
: Nipped-B homolog (Drosophila) - NSD1NSD1NSD1 is a transcription coregulator protein associated with Sotos syndrome and Weaver syndrome.-External Links:*...
: Transcription coregulator protein - PikachurinPikachurinPikachurin, also known as protein-like polysaccharide and EGF-like, fibronectin type-III and laminin G-like domain-containing polysaccharide , is a polysaccharide that in humans is encoded by the EGFLAM gene...
: Responsible for the functioning of the ribbon synapseRibbon synapseRibbon synapse is a type of synapse linking some particular neuronal cells, which have unique features, such as their morphology, mechanisms of multivesicular release and calcium channel positioning which promote high speed of neurotransmitter release and an ongoing cycle of exocytosis and...
s; allows the eye to track moving objects - SLC22A5SLC22A5SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.-External links:*...
: solute carrier familySolute carrier familyThe solute carrier group of membrane transport proteins include over 300 members organized into 51 families. The SLC gene nomenclature system was originally proposed by the Human Genome Organization and is the basis for the official HUGO names of the genes that encode these transporters...
22 (organic cation transporter), member 5 - SLC26A2SLC26A2The SLC26A2 protein is a member of the solute carrier family. In humans, this transporter is encoded by the SLC26A2 gene.- Function :The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias...
: solute carrier family 26 (sulfate transporter), member 2 - SMN1SMN1Survival motor neuron protein is a protein that in humans is encoded by the SMN1 gene.-Interactions:SMN1 has been shown to interact with Gem-associated protein 7, GEMIN4, KPNB1, Survival of motor neuron protein-interacting protein 1, DDX20, Coilin, Small nuclear ribonucleoprotein D1, Fibrillarin,...
: survival motor neuron 1, telomeric - SMN2SMN2Survival of motor neuron 2, centromeric also known as SMN2 is a protein which in humans is encoded by the SMN2 gene.- Gene :This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to...
: survival motor neuron 2, centromeric - SNCAIPSNCAIPSynphilin-1 is a protein that in humans is encoded by the SNCAIP gene.-Interactions:SNCAIP has been shown to interact with Alpha-synuclein and Parkin .-Further reading:...
: synuclein, alpha interacting protein (synphilin) - SPINK5SPINK5Lympho-epithelial Kazal-type-related inhibitor also known as serine protease inhibitor Kazal-type 5 is a protein that in humans is encoded by the SPINK5 gene.- Structure and function :...
: serine protease inhibitor Kazal-type 5 (LEKTI) - SPINK6SPINK6Serine protease inhibitor Kazal-type 6 is a protein encoded by the SPINK6 gene in humans. It is a potent inhibitor of epidermal proteases involved in maintaining skin homeostasis, including KLK5, KLK7 and KLK14. SPINK6 is a member of a gene family cluster located on chromosome 5q33.1, which...
: serine protease inhibitor Kazal-type 6 - SPINK9: serine protease inhibitor Kazal-type 9 (LEKTI-2)
- TCOF1TCOF1Treacle protein is a protein that in humans is encoded by the TCOF1 gene.TCOF1 is a gene that provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues in the face...
: Treacher Collins-Franceschetti syndrome 1 - TGFBITGFBITransforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
: keratoepithelin - TTC37: Tetratricopeptide repeat domain 37
- FGF1FGF1Heparin-binding growth factor 1 is a protein that in humans is encoded by the FGF1 gene.-Interactions:FGF1 has been shown to interact with CSNK2B, CSNK2A2, HSPA9, S100A13, Casein kinase 2, alpha 1, Fibroblast growth factor receptor 1, FIBP, Fibroblast growth factor receptor 4, Fibroblast growth...
: fibroblast growth factor 1 (acidic fibroblast growth factor)
Diseases & disorders
The following are some of the diseases related to genes located on chromosome 5:- Achondrogenesis type 1BAchondrogenesis type 1BAchondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward...
- Atelosteogenesis, type IIAtelosteogenesis, type IIAtelosteogenesis, type II is a severe disorder of cartilage and bone development. It is extremely rare, and infants with the disorder are usually stillborn, however those that that survive birth die soon after from respiratory failure.-Symptoms:...
- Cockayne syndromeCockayne syndromeCockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
- Cornelia de Lange syndromeCornelia de Lange SyndromeCornelia de Lange Syndrome often termed as Bushy Syndrome is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.! Appx...
- Corneal dystrophy of Bowman layer, type ICorneal dystrophy of Bowman layer, type IReis-Bucklers corneal dystrophy , also known as Corneal dystrophy of Bowman layer, type I, is a rare form of human corneal dystrophy in which the Bowman's layer undergoes disintegration. The disease has been associated with mutations in TGFBI gene...
- Corneal dystrophy of Bowman layer, type IICorneal dystrophy of Bowman layer, type IICorneal dystrophy of Bowman layer, type II , or, more commonly, Thiel-Behnke dystrophy , is a rare form of human corneal dystrophy affecting the layer that supports corneal epithelium...
- Cri du ChatCri du chatCri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...
- Diastrophic dysplasiaDiastrophic dysplasiaDiastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development....
- 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, dermatosparaxis type
- Familial adenomatous polyposisFamilial adenomatous polyposisFamilial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
- Granular corneal dystrophy type IGranular corneal dystrophy type IGranular corneal dystrophy type I is a rare form of human corneal dystrophy. It is caused by mutations in TGFBI gene encoding keratoepithelin....
- Granular corneal dystrophy type IIGranular corneal dystrophy type IIGranular corneal dystrophy type II , also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy, is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant...
- GM2-gangliosidosis, AB variantGM2-gangliosidosis, AB variantGM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. It has a similar pathology to Sandhoff disease and Tay-Sachs disease...
- HomocystinuriaHomocystinuriaHomocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
- 3-Methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiency3-Methylcrotonyl-CoA carboxylase deficiency , also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins...
- Netherton syndromeNetherton syndromeNetherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. It is named after E.W. Netherton.- Characteristics :...
- Nicotine dependency
- Parkinson's diseaseParkinson's diseaseParkinson's disease is a degenerative disorder of the central nervous system...
- Primary carnitine deficiencyPrimary carnitine deficiencySystemic primary carnitine deficiency , also called deficiency of plasma-membrane carnitine transporter, carnitine transporter deficiency or carnitine uptake defect , is an autosomal recessive metabolic disorder that prevents the body from using fats for energy, particularly during periods without...
- Recessive multiple epiphyseal dysplasiaRecessive multiple epiphyseal dysplasiaAutosomal recessive multiple epiphyseal dysplasia , also called epiphyseal dysplasia, multiple, 4 , multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development...
- Sandhoff diseaseSandhoff diseaseSandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...
- Spinal muscular atrophySpinal muscular atrophySpinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
- Sotos SyndromeSotos syndromeSotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by autism mild mental retardation, delayed motor, cognitive, and social development, hypotonia , and speech impairments...
- Survival motor neuron spinal muscular atrophySurvival motor neuron spinal muscular atrophySurvival motor neuron spinal muscular atrophy is a term used used to describe certain forms of spinal muscular atrophy that are associated with the Survival of Motor Neuron protein...
- Treacher Collins syndromeTreacher Collins syndromeTreacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....
- Tricho-hepato-enteric syndromeTricho-hepato-enteric syndromeTricho-hepato-enteric syndrome , also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities. Many also have liver disease and...
- 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 II
Chromosomal conditions
The following conditions are caused by changes in the structure or number of copies of chromosome 5:- Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. Researchers have not identified all of these genes or determined how their loss leads to the features of the disorder. They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome.
- Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. A specific region designated 5p15.3 is associated with a cat-like cry, and a nearby region called 5p15.2 is associated with mental retardation, small head size (microcephaly), and distinctive facial features.
- Familial Adenomatous PolyposisFamilial adenomatous polyposisFamilial adenomatous polyposis is an inherited condition in which numerous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when not treated....
is caused by a deletion of the APCAdenomatosis polyposis coliAdenomatous polyposis coli also known as deleted in polyposis 2.5 is a protein that in humans is encoded by the APC gene. Mutations in the APC gene may result in colorectal cancer....
tumor suppressor gene on the long (q) arm of chromosome 5. This chromosomal change results in thousands of colonic polyps which gives the patient a 100% risk of colon cancer if total colectomy is not done.
- Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems. Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosomeRing chromosomeA ring chromosome is a chromosome whose arms have fused together to form a ring. A ring chromosome is denoted by the symbol r. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, they may also arise spontaneously during development.-Formation:Normally, the ends...
5. A ring chromosome occurs when both ends of a broken chromosome are reunited.