ASS1 angl Argininosuccinate synthase 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 9 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 412 aminokislot a molekulyarna masa 46 530 5 ASS1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB2NZ2IdentifikatoriSimvoliASS1 ASS CTLN1 Argininosuccinate synthetase 1 argininosuccinate synthase 1Zovnishni ID OMIM 603470 MGI 88090 HomoloGene 6899 GeneCards ASS1Pov yazani genetichni zahvoryuvannyaCitrulinemiya 1 Ontologiya genaMolekulyarna funkciya nucleotide binding amino acid binding ligase activity GO 0001948 GO 0016582 protein binding identical protein binding ATP binding argininosuccinate synthase activity RNA binding toxic substance bindingKlitinna komponenta ekzosoma mitohondriya myelin sheath citoplazma gialoplazma klitinne yadro mitohondrialna zovnishnya membrana lizosoma endoplazmatichnij retikulum neuron projection neuronal cell body Perikarion cell body fiberBiologichnij proces aspartate metabolic process cellular response to laminar fluid shear stress cikl sechovini positive regulation of nitric oxide biosynthetic process negative regulation of leukocyte cell cell adhesion cellular amino acid biosynthetic process citrulline metabolic process argininosuccinate metabolic process arginine biosynthetic process kidney development liver development acute phase response midgut development GO 0010260 starinnya lyudini response to nutrient cirkadnij ritm response to toxic substance response to zinc ion response to mycotoxin response to amine response to estradiol response to lipopolysaccharide response to amino acid response to peptide hormone response to steroid hormone response to glucocorticoid response to growth hormone diaphragm development response to fatty acid cellular response to lipopolysaccharide cellular response to amino acid stimulus cellular response to ammonium ion cellular response to cAMP cellular response to interferon gamma cellular response to tumor necrosis factor cellular response to glucagon stimulus cellular response to oleic acid cellular response to amine stimulus cellular response to dexamethasone stimulusDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez445 11898Ensembl ENSG00000130707 ENSMUSG00000076441UniProt P00966 P16460RefSeq mRNK NM 000050NM 054012NM 007494RefSeq bilok NP 000041NP 446464NP 031520Lokus UCSC Hr 9 130 44 130 5 MbHr 2 31 36 31 41 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAKA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyami nalezhit do ligaz fosfoproteyiniv Zadiyanij u takomu biologichnomu procesi yak biosintez aminokislot Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami Lokalizovanij u citoplazmi Literatura red Bock H G O Su T S O Brien W E Beaudet A L 1983 Sequence for human argininosuccinate synthetase cDNA Nucleic Acids Res 11 6505 6512 PubMed DOI 10 1093 nar 11 18 6505 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Surh L C Beaudet A L O Brien W E 1991 Molecular characterization of the murine argininosuccinate synthetase locus Gene 99 181 189 PubMed DOI 10 1016 0378 1119 91 90125 U Enns G M O Brien W E Kobayashi K Shinzawa H Pellegrino J E 2005 Postpartum psychosis in mild argininosuccinate synthetase deficiency Obstet Gynecol 105 1244 1246 PubMed DOI 10 1097 01 AOG 0000157769 90230 24 Engel K Hoehne W Haeberle J 2009 Mutations and polymorphisms in the human argininosuccinate synthetase ASS1 gene Hum Mutat 30 300 307 PubMed DOI 10 1002 humu 20847 Diez Fernandez C Ruefenacht V Haeberle J 2017 Mutations in the human argininosuccinate synthetase ASS1 gene impact on patients common changes and structural considerations Hum Mutat 38 471 484 PubMed DOI 10 1002 humu 23184Primitki red Zahvoryuvannya genetichno pov yazani z ASS1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 758 angl Arhiv originalu za 23 veresnya 2017 Procitovano 8 veresnya 2017 UniProt P00966 angl Arhiv originalu za 29 serpnya 2017 Procitovano 8 veresnya 2017 Div takozh red Hromosoma 9 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title Argininosukcinatsintaza amp oldid 35901763
