Genom człowieka -gen SOD

Listopad 19, 2009 by
Kategoria: Wiedza o Zespole Downa

Wczoraj jeden z naszych "portalowych gości" zadał pytanie: skąd my wszystko to wiemy o zespole Downa, a w szczególności z zakresu genetyki. Odpowiadam. O całym genomie ludzkim można dowiedzieć się tutaj: http://www.genecards.org jest to strona WEIZMANN INSTITUTE OF SCIENCE, który opracował dane w postaci kard dla wszystkich genów. Ostrzegam jednak, że jak zwykle prawdziwa wiedza wygląda wielce skomplikowanie.

Oto przykład o naszym słynnym SODzie, który w formie naukowych kart wygląda tak: patrz tabelka poniżej, a w formie dla nas przyswajalnej tak:

SOD1-dysmutasa ponadtlenkowa-proteina kodowana przez ten gen wiąże jony miedzi i cynku oraz odpowiedzialna jest za niszczenie wolnych rodników w organizmie (więcej tutaj: http://pl.wikipedia.org/wiki/Dysmutaza_ponadtlenkowa)

GeneCard: SOD1 superoxide dismutase 1, soluble (GC21P031953; Chromosome 21:31,953,806-31,963,115)

The following 8 records in the GeneCard text contribute to matching your query:
- ALIASES: Cu,Zn superoxide dismutase, EC 1.15.1.1. (CROW21)| ALS (EG)| Cu /Zn superoxide dismutase (EG)| Cu/Zn superoxide dismutase (EG)| SOD (EG)| SOD, soluble (EG)| homodimer (EG)| indophenoloxidase A (EG)| superoxide dismutase (aa 120-154) (EG)| superoxide dismutase 1, soluble (EG)| superoxide dismutase, cystolic (EG)| amyotrophic lateral sclerosis 1 (adult) (HGNC)| IPOA (HGNC)| IPOA (EG)| ALS1 (OMIM)| ALS1 (EG)
- LITERATURE: The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation. . . .
- ENTREZGENE: chr=21 | contig= | cytoLoc=21q22.1|21q22.11 | dbXrefs=HGNC:11179,MIM:147450,Ensembl:ENSG00000142168,HPRD:00937 | egHugo= | egId=6647 | end=31963115 | geneName=superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) | genomicNucAcc=AP000253.2 AP000254.1 L44139.1 L46374.1 L46375.1 L44746.1 AY835629.1 X01780.1 X01781.1 X01782.1 X01783.1 X01784.1 X95228.1 CH471079.2 AC_000064.1 AC_000153.1 NC_000021.7 NT_011512.10 NW_001838706.1 NW_927384.1 | go=GO:0046620 GO:0000303 GO:0060087 GO:0005737 GO:0002262 GO:0043025 GO:0007566 GO:0019430 GO:0032839 GO:0009408 GO:0006979 GO:0006749 GO:0030346 GO:0060052 GO:0005759 GO:0040014 GO:0051087 GO:0055114 GO:0032287 GO:0016209 GO:0005739 GO:0005886 GO:0016491 GO:0031012 GO:0007569 GO:0001895 GO:0042803 GO:0046716 GO:0043234 GO:0050665 GO:0006879 GO:0008217 GO:0045859 GO:0005615 GO:0031410 GO:0001890 GO:0001819 GO:0045471 GO:0006302 GO:0033081 GO:0043065 GO:0005507 GO:0006309 GO:0042493 GO:0043524 GO:0001541 GO:0060047 GO:0004784 GO:0060088 GO:0019226 GO:0005777 GO:0007283 GO:0005829 GO:0008270 GO:0043085 GO:0005634 GO:0000187 GO:0048678 GO:0048538 GO:0042542 GO:0045541 GO:0007626 GO:0046872 GO:0007605 GO:0051881 | protAcc=AAB05661.1 AAB05662.1 AAB59626.1 AAB59627.1 AAC41773.1 AAV80422.1 CAA25915.1 CAA25916.1 CAA25917.1 CAA25918.1 CAA25919.1 CAA64520.1 EAX09889.1 EAX09890.1 P00441.2 Q6NR85 BAG35052.1 AAL15444.1 AAR21563.1 AAH01034.1 AAP35322.1 CAG29351.1 CAG46542.1 ABL96616.1 CAA26182.1 NP_000445.1 | proteinAliases=Cu /Zn superoxide dismutase|Cu/Zn superoxide dismutase|SOD, soluble|indophenoloxidase A|superoxide dismutase (aa 120-154)|superoxide dismutase 1, soluble|superoxide dismutase, cystolic | refseq=NM_000454.4(REVIEWED) | rnaNucAcc=AK312116.1 AV756797.1 AY049787.1 AY450286.1 BC001034.1 BT006676.1 CA448539.1 CR450355.1 CR541742.1 CR594020.1 CR600386.1 CR613850.1 CR621637.1 CR624343.1 EF151142.1 W17182.1 X02317.1 NM_000454.4 | start=31953806 | status=O | summary=The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. | symbol=SOD1 | synonyms=ALS ALS1 IPOA SOD homodimer | type=protein-coding
- euGenes: Organism=worm|WormSymbol=sod-4|WormLocation=III 9570057..9572277|WormDescription=Superoxide dismutase|WormSimilarity=54%|WormLink=sod-4||Organism=worm|WormSymbol=ZK430.3|WormLocation=II 4417505..4419118|WormDescription=superoxide dismutase|WormSimilarity=54%|WormLink=ZK430.3||Organism=worm|WormSymbol=sod-1|WormLocation=II 6972809..6973813|WormDescription=superoxide dismutase|WormSimilarity=56%|WormLink=sod-1||Organism=fly|FlySymbol=Sod|FlyLocation= 68A7|FlyDescription=determination of adult life span copper, zinc superoxide dismutase|FlySimilarity=61%|FlyLink=FBgn0003462||Organism=fly|FlySymbol=CG9027|FlyLocation= 47F7–8|FlyDescription= superoxide dismutase|FlySimilarity=55%|FlyLink=FBgn0033631
- HomoloGene:Organism=Cel|Symbol=sod-1|Location=|Description=SOD (superoxide dismutase)|Nuc_Similarity=55.48|Prot_Similarity=57.89|EntrezGene=174141|GenBank=NM_001026786.2|Protein=NP_001021957.1|HomologeneId=392|FormatType=new . . .
- GENETEX: catalog=GTX94802 | descr=Mouse monoclonal [1G6] to SOD1 | productId=37011 || catalog=GTX19890 | descr=Rabbit polyclonal to SODD | productId=30273 || catalog=GTX13595 | descr=Rabbit polyclonal to SODD | productId=24207 || catalog=GTX13498 | descr=Rabbit polyclonal to Cu / Zn SOD | productId=24139 || catalog=GTX74389 | descr=Rabbit Antibody to SODD | productId=20462 || catalog=GTX28866 | descr=Sheep polyclonal to SOD | productId=6129 || catalog=GTX22048 | descr=Rabbit polyclonal to SODD | productId=3163
- RNDSYSTEMS: productType=6 | link=3126;descr=SOD1/Cu-Zn SOD
- MILLIPORE: uniprotid=P00441 | class=i-4659 # id=UC016136 # name=NS120 # desc="Superoxide Dismutase 1 kit, one each of AB5480 & AB5482" && class=i-4659 # id=UC016049 # name=AB5482 # desc=Anti-Superoxide Dismutase 1 && class=i-4659 # id=UC016072 # name=AB5480 # desc="Anti-Superoxide Dismutase 1, aa 25-37" && class=i-4659 # id=UC004418 # name=07-403 # desc=Anti-Cu/Zn-SOD | antibodies=3 | assays=0 | clones=0 | kits=0 | kitsAssays=0 | plasmids=0 | protEnzymes=0 | rnai=0

GeneCard: SOD2 superoxide dismutase 2, mitochondrial (GC06M160020; Chromosome 6:160,020,138-160,034,343)

The following 7 records in the GeneCard text contribute to matching your query:
- ALIASES: IPO-B (EG)| MNSOD (EG)| Mn superoxide dismutase (EG)| Mn-SOD (EG)| OTTHUMP00000017530 (EG)| OTTHUMP00000017531 (EG)| indophenoloxidase B (EG)| manganese superoxide dismutase (EG)| manganese-containing superoxide dismutase (EG)| mangano-superoxide dismutase (EG)
- LITERATURE: Association between Ala-9Val polymorphism of Mn-SOD gene and schizophrenia. . . .
- ENTREZGENE: chr=6 | contig= | cytoLoc=6q25.3 | dbXrefs=HGNC:11180,MIM:147460,Ensembl:ENSG00000112096,HPRD:00938 | egHugo= | egId=6648 | end=160034343 | geneName=superoxide dismutase 2, mitochondrial | genomicNucAcc=X65965.1 L34157.1 S77127.1 AY267901.1 D83493.1 AL135914.25 CH471051.2 AC_000049.1 AC_000138.1 NC_000006.10 NT_007422.13 NW_001838991.2 NW_923184.1 | go=GO:0006801 GO:0005759 GO:0004784 GO:0000303 GO:0055114 GO:0006302 GO:0006357 GO:0005739 GO:0030145 GO:0016491 GO:0001836 GO:0043066 GO:0042542 GO:0006979 GO:0046872 GO:0001315 GO:0005743 | protAcc=AAA83933.1 AAD14248.1 AAP03428.1 BAA18955.1 CAI21845.1 CAI21846.1 EAW47629.1 EAW47630.1 EAW47631.1 P04179.2 Q4ZJI1 Q5TCM0 Q6LE88 Q6LEN1 Q7Z7M4 Q7Z7M5 Q7Z7M6 Q7Z7M7 Q96AM7 Q9UG59 BAG53464.1 BAG35908.1 CAB62521.2 CAL37714.1 AAP34407.1 AAP34408.1 AAP34409.1 AAP34410.1 AAH12423.1 AAH16934.1 AAP35613.1 AAY21807.1 ABM92204.1 ABM84678.1 AAA36622.1 CAA30687.1 CAA32502.1 CAA33228.1 CAA42066.1 CAA68533.1 CAA68791.1 NP_000627.2 NP_001019636.1 NP_001019637.1 | proteinAliases=Mn superoxide dismutase|OTTHUMP00000017530|OTTHUMP00000017531|indophenoloxidase B|manganese superoxide dismutase|manganese-containing superoxide dismutase|mangano-superoxide dismutase | refseq=NM_000636.2(REVIEWED) NM_001024465.1(REVIEWED) NM_001024466.1(REVIEWED) | rnaNucAcc=AK097395.1 AK313082.1 AL050388.1 AL691784.1 AM392836.1 AY280718.1 AY280719.1 AY280720.1 AY280721.1 BC012423.1 BC016934.1 BC035422.1 BG699596.1 BM994509.1 BT006967.1 BU164685.1 BU741675.1 CR626136.1 DQ003134.1 DQ890587.2 DQ893752.2 M36693.1 X07834.1 X14322.1 X15132.1 X59445.1 Y00472.1 Y00985.1 NM_000636.2 NM_001024465.1 NM_001024466.1 | start=160020138 | status=O | summary=This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. | symbol=SOD2 | synonyms=IPO-B MNSOD Mn-SOD | type=protein-coding
- euGenes: Organism=worm|WormSymbol=sod-3|WormLocation=X 17123175..17124795|WormDescription=superoxide dismutase|WormSimilarity=61%|WormLink=sod-3||Organism=worm|WormSymbol=sod-2|WormLocation=I 8442616..8443737|WormDescription=superoxide dismutase|WormSimilarity=64%|WormLink=sod-2||Organism=fly|FlySymbol=Sod2|FlyLocation= 53C15|FlyDescription=superoxide metabolism manganese superoxide dismutase|FlySimilarity=62%|FlyLink=FBgn0010213
- HomoloGene:Organism=Cel|Symbol=sod-2|Location=|Description=SOD (superoxide dismutase)|Nuc_Similarity=62.96|Prot_Similarity=65.28|EntrezGene=172632|GenBank=NM_059889.3|Protein=NP_492290.1|HomologeneId=530|FormatType=new . . .
- RNDSYSTEMS: productType=6 | link=3127;descr=SOD2/Mn-SOD
- MILLIPORE: uniprotid=P04179 | class=p-466 # id=UC007635 # name=APT290 # desc=Superoxide Dismutase Activity Assay && class=i-4661 # id=UC001545 # name=06-984 # desc=Anti-Mn-SOD && class=i-4661 # id=UC009906 # name=MAB4081 # desc="Anti-MnSOD, clone MnS-1" | antibodies=2 | assays=1 | clones=0 | kits=0 | kitsAssays=1 | plasmids=0 | protEnzymes=0 | rnai=0

GeneCard: SOD3 superoxide dismutase 3, extracellular (GC04P024472; Chromosome 4:24,405,153-24,411,564)

The following 7 records in the GeneCard text contribute to matching your query:
- ALIASES: MGC20077 (EG)| OTTHUMP00000158715 (EG)| EC-SOD (HGNC)| EC-SOD (SP)| EC-SOD (EG)
- SWISSPROT: SUBCELLULAR LOCATION: Secreted, extracellular space. Note=99% of EC-SOD is anchored to heparan sulfate proteoglycans in the tissue interstitium, and 1% is located in the vasculature in equilibrium between the plasma and the endothelium
                       TISSUE SPECIFICITY: Expressed in blood vessels, heart, lungs, kidney and placenta. Major SOD isoenzyme in extracellular fluids such as plasma, lymph and synovial fluid
                       POLYMORPHISM: The variant Gly-231 which is found in about 2.2% of individual displays a 10-fold increased plasma EC-SOD content due to reduced heparin-binding affinity and thus the impairment of its binding ability to endothelial cell surface
- LITERATURE: The subunit composition of human extracellular superoxide dismutase (EC-SOD) regulates enzymatic activity. . . .
- ENTREZGENE: chr=4 | contig= | cytoLoc=4p15.3-p15.1 | dbXrefs=HGNC:11181,MIM:185490,Ensembl:ENSG00000109610,HPRD:01708 | egHugo= | egId=6649 | end=24411562 | geneName=superoxide dismutase 3, extracellular | genomicNucAcc=AC006390.8 U10116.1 S71544.1 AY787834.1 CH471069.1 AC_000047.1 AC_000136.1 NC_000004.10 NT_006316.15 NW_001838900.1 NW_922073.1 | go=GO:0006801 GO:0004784 GO:0055114 GO:0005802 GO:0005625 GO:0001666 GO:0016209 GO:0046872 GO:0005515 GO:0005507 GO:0008270 GO:0008201 GO:0005576 GO:0016491 | protAcc=AAA62278.1 AAB31336.1 AAV40827.1 EAW92823.1 P08294.2 Q16867 AAH14418.1 CAG46651.1 ABM83012.1 ABM86206.1 AAA66000.1 NP_003093.2 | proteinAliases=OTTHUMP00000158715 | refseq=NM_003102.2(REVIEWED) | rnaNucAcc=BC014418.1 BI757365.1 BM677660.1 CR541853.1 CR592129.1 CR595031.1 CR597150.1 CR606896.1 CR607978.1 CR608025.1 CR618426.1 CR622278.1 CR625060.1 DA668533.1 DQ892086.2 DQ895280.2 J02947.1 NM_003102.2 | start=24405153 | status=O | summary=This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the dismutation of two superoxide radicals into hydrogen peroxide and oxygen. The product of this gene is thought to protect the brain, lungs, and other tissues from oxidative stress. The protein is secreted into the extracellular space and forms a glycosylated homotetramer that is anchored to the extracellular matrix (ECM) and cell surfaces through an interaction with heparan sulfate proteoglycan and collagen. A fraction of the protein is cleaved near the C-terminus before secretion to generate circulating tetramers that do not interact with the ECM. | symbol=SOD3 | synonyms=EC-SOD MGC20077 | type=protein-coding
- HGNC: accs= | aliases=EC-SOD | dateApproved=1988-05-08 | dateModified=2008-02-07 | dateNameChanged= | description=superoxide dismutase 3, extracellular | egCuratedId=6649 | egMappedId=6649 | enzymeIds=1.15.1.1 | geneFamName= | hgnc=11181 | loc=4pter-q21 | mgdId= | omimId=185490 | prevNames= | prevSymbols= | pubmedIds= | refseqId= | refseqMappedId=NM_003102 | status=Approved | symbol=SOD3 | uniprotId=P08294
- RNDSYSTEMS: productType=6 | link=3128;descr=SOD3/EC-SOD
- MILLIPORE: uniprotid=P08294 | class=i-4660 # id=UC006692 # name=07-704 # desc=Anti-EC-SOD | antibodies=1 | assays=0 | clones=0 | kits=0 | kitsAssays=0 | plasmids=0 | protEnzymes=0 | rnai=0

GeneCard: APP amyloid beta (A4) precursor protein (GC21M026174; Chromosome 21:26,174,732-26,465,003)

The following 1 record in the GeneCard text contributes to matching your query:
- LITERATURE: SOD-1 inhibits FAS expression in cortex of APP transgenic mice. . . .

Ci którzy jednak chcą wiedzieć coś więcej zawsze mogą do nas napisać a my poszukamy odpowiedzi na dręczące pytania. 

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