Wikipedia

MDN1

Midazinski homolog MDN1 (kvasac) jest protein koji je kod ljudi kodiran genom MDN.[5] Midazin je član porodice AAAATPaza.

MDN1
Identifikatori
AliasiMDN1
Vanjski ID-jeviOMIM: 618200 MGI: 1926159 HomoloGene: 39689 GeneCards: MDN1
Lokacija gena (čovjek)
Hromosom 6 (čovjek)
Hrom.Hromosom 6 (čovjek)[1]
Hromosom 6 (čovjek)
Genomska lokacija za MDN1
Genomska lokacija za MDN1
Bend6q15Početak89,642,498 bp[1]
Kraj89,819,794 bp[1]
Lokacija gena (miš)
Hromosom 4 (miš)
Hrom.Hromosom 4 (miš)[2]
Hromosom 4 (miš)
Genomska lokacija za MDN1
Genomska lokacija za MDN1
Bend4 A5|4 14.3 cMPočetak32,657,119 bp[2]
Kraj32,775,217 bp[2]
Ontologija gena
Molekularna funkcija• GO:0001948, GO:0016582 vezivanje za proteine
• ATPase activity
• unfolded protein binding
• ATP binding
• nucleotide binding
Ćelijska komponenta• jedro
• intermediate filament cytoskeleton
• Jedarce
• membrana
• citosol
• preribosome, large subunit precursor
• nukleoplazma
• citoplazma
Biološki proces• rRNA processing
• ribosomal large subunit assembly
• GO:0034622 protein-containing complex assembly
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez

23195

100019

Ensembl

ENSG00000112159
ENSG00000288121

ENSMUSG00000058006

UniProt

Q9NU22

n/a

RefSeq (mRNK)

NM_014611

NM_001081392
NM_133874
NM_177666

RefSeq (bjelančevina)

NP_055426

n/a

Lokacija (UCSC)Chr 6: 89.64 – 89.82 MbChr 4: 32.66 – 32.78 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

uredi

Dužina polipeptidnog lanca je 5.596 aminokiselina, а molekulska težina 632.820 Da.[6]

1020304050
MEHFLLEVAAAPLRLIAAKNEKSRSELGRFLAKQVWTPQDRQCVLSTLAQ
LLLDKDCTVLVGRQLRPLLLDLLERNAEAIKAGGQINHDLHERLCVSMSK
LIGNHPDVLPFALRYFKDTSPVFQRLFLESSDANPVRYGRRRMKLRDLME
AAFKFLQQEQSVFRELWDWSVCVPLLRSHDTLVRWYTANCLALVTCMNEE
HKLSFLKKIFNSDELIHFRLRLLEEAQLQDLEKALVLANPEVSLWRKQKE
LQYLQGHLVSSDLSPRVTAVCGVVLPGQLPAPGELGGNRSSSREQELALR
SYVLVESVCKSLQTLAMAVASQNAVLLEGPIGCGKTSLVEYLAAVTGRTK
PPQLLKVQLGDQTDSKMLLGMYRCTDVPGEFVWQPGTLTQAATMGHWILL
EDIDYAPLDVVSVLIPLLENGELLIPGRGDCLKVAPGFQFFATRRLLSCG
GNWYRPLNSHATLLDKYWTKIHLDNLDKRELNEVLQSRYPSLLAVVDHLL
DIYIQLTGEKHHSWSDSSVGCEQAPEEVSEARRENKRPTLEGRELSLRDL
LNWCNRIAHSFDSSSLSASLNIFQEALDCFTAMLSEHTSKLKMAEVIGSK
LNISRKKAEFFCQLYKPEIVINELDLQVGRVRLLRKQSEAVHLQREKFTF
AATRPSSVLIEQLAVCVSKGEPVLLVGETGTGKTSTIQYLAHITGHRLRV
VNMNQQSDTADLLGGYKPVDHKLIWLPLREAFEELFAQTFSKKQNFTFLG
HIQTCYRQKRWHDLLRLMQHVHKSAVNKDGKDSETGLLIKEKWEAFGLRL
NHAQQQMKMTENTLLFAFVEGTLAQAVKKGEWILLDEINLAAPEILECLS
GLLEGSSGSLVLLDRGDTEPLVRHPDFRLFACMNPATDVGKRNLPPGIRN
RFTELYVEELESKEDLQVLIVDYLKGLSVNKNTVQGIINFYTALRKESGT
KLVDGTGHRPHYSLRTLCRALRFAASNPCGNIQRSLYEGFCLGFLTQLDR
ASHPIVQKLICQHIVPGNVKSLLKQPIPEPKGGRLIQVEGYWIAVGDKEP
TIDETYILTSSVKLNLRDIVRVVSAGTYPVLIQGETSVGKTSLIQWLAAA
TGNHCVRINNHEHTDIQEYIGCYTSDSSGKLVFKEGVLIDAMRKGYWIIL
DELNLAPTDVLEALNRLLDDNRELLVTETQEVVKAHPRFMLFATQNPPGL
YGGRKVLSRAFRNRFVELHFDELPSSELETILHKRCSLPPSYCSKLVKVM
LDLQSYRRSSSVFAGKQGFITLRDLFRWAERYRLAEPTEKEYDWLQHLAN
DGYMLLAGRVRKQEEIDVIQEVLEKHFKKKLCPQSLFSKENVLKLLGKLS
TQISTLECNFGHIVWTEGMRRLAMLVGRALEFGEPVLLVGDTGCGKTTIC
QVFAALANQKLYSVSCHLHMETSDFLGGLRPVRQKPNDKEEIDTSRLFEW
HDGPLVQAMKEDGFFLLDEISLADDSVLERLNSVLEVEKSLVLAEKGSPE
DKDSEIELLTAGKKFRILATMNPGGDFGKKELSPALRNRFTEIWCPQSTS
REDLIQIISHNLRPGLCLGRIDPKGSDIPEVMLDFIDWLTHQEFGRKCVV
SIRDILSWVNFMNKMGEEAALKRPEIISTVTSFVHAACLVYIDGIGSGVT
SSGFGTALLARKECLKFLIKRLAKIVRLTEYQKNELKIYDRMKAKEFTGI
DNLWGIHPFFIPRGPVLHRNNIADYALSAGTTAMNAQRLLRATKLKKPIL
LEGSPGVGKTSLVGALAKASGNTLVRINLSEQTDITDLFGADLPVEGGKG
GEFAWRDGPLLAALKAGHWVVLDELNLASQSVLEGLNACFDHRGEIYVPE
LGMSFQVQHEKTKIFGCQNPFRQGGGRKGLPRSFLNRFTQVFVDPLTVID
MEFIASTLFPAIEKNIVKKMVAFNNQIDHEVTVEKKWGQKGGPWEFNLRD
LFRWCQLMLVDQSPGCYDPGQHVFLVYGERMRTEEDKKKVIAVFKDVFGS
NSNPYMGTRLFRITPYDVQLGYSVLSRGSCVPHPSRHPLLLLHQSFQPLE
SIMKCVQMSWMVILVGPASVGKTSLVQLLAHLTGHTLKIMAMNSAMDTTE
LLGGFEQVDLIRPWRRLLEKVEGTVRALLRDSLLISADDAEVVLRAWSHF
LLTYKPKCLGEGGKAITMEIVNKLEAVLLLMQRLNNKINSYCKAEFAKLV
EEFRSFGVKLTQLASGHSHGTFEWVDSMLVQALKSGDWLLMDNVNFCNPS
VLDRLNALLEPGGVLTISERGMIDGSTPTITPNPNFRLFLSMDPVHGDIS
RAMRNRGLEIYISGEGDASTPDNLDLKVLLHSLGLVGNSVCDILLALHTE
TRSTVVGSPTSSVSTLIQTAILIVQYLQRGLSLDRAFSEACWEVYVCSQH
SPANRKLVQALLEKHVSSLRAHETWGDSILGMGLWPDSVPSALFATEDSH
LSTVRRDGQILVYCLNRMSMKTSSWTRSQPFTLQDLEKIMQSPSPENLKF
NAVEVNTYWIDEPDVLVMAVKLLIERATNQDWMLRVKWLYHLAKNIPQGL
ESIQIHLEASAASLRNFYSHSLSGAVSNVFKILQPNTTDEFVIPLDPRWN
MQALDMIRNLMDFDPQTDQPDQLFALLESAANKTIIYLDREKRVFTEANL
VSVGSKKLRESVLRMSFEFHQDPESYHTLPHEIVVNLAAFFELCDALVLL
WVQSSQGMVSDASANEILGSLRWRDRFWTVADTVKVDAPGLALLALHWHW
VLKHLVHQIPRLLMNYEDKYYKEVQTVSEHIQNCLGSQTGGFAGIKKLQK
FLGRPFPFKDKLVVECFSQLKVLNKVLAIREQMSALGESGWQEDINRLQV
VASQWTLKKSLLQAWGLILRANILEDVSLDELKNFVHAQCLELKAKGLSL
GFLEKKHDEASSLSHPDLTSVIHLTRSVQLWPAMEYLAMLWRYKVTADFM
AQACLRRCSKNQQPQINEEISHLISFCLYHTPVTPQELRDLWSLLHHQKV
SPEEITSLWSELFNSMFMSFWSSTVTTNPEYWLMWNPLPGMQQREAPKSV
LDSTLKGPGNLNRPIFSKCCFEVLTSSWRASPWDVSGLPILSSSHVTLGE
WVERTQQLQDISSMLWTNMAISSVAEFRRTDSQLQGQVLFRHLAGLAELL
PESRRQEYMQNCEQLLLGSSQAFQHVGQTLGDMAGQEVLPKELLCQLLTS
LHHFVGEGESKRSLPEPAQRGSLWVSLGLLQIQTWLPQARFDPAVKREYK
LNYVKEELHQLQCEWKTRNLSSQLQTGRDLEDEVVVSYSHPHVRLLRQRM
DRLDNLTCHLLKKQAFRPQLPAYESLVQEIHHYVTSIAKAPAVQDLLTRL
LQALHIDGPRSAQVAQSLLKEEASWQQSHHQFRKRLSEEYTFYPDAVSPL
QASILQLQHGMRLVASELHTSLHSSMVGADRLGTLATALLAFPSVGPTFP
TYYAHADTLCSVKSEEVLRGLGKLILKRSGGKELEGKGQKACPTREQLLM
NALLYLRSHVLCKGELDQRALQLFRHVCQEIISEWDEQERIAQEKAEQES
GLYRYRSRNSRTALSEEEEEEREFRKQFPLHEKDFADILVQPTLEENKGT
SDGQEEEAGTNPALLSQNSMQAVMLIHQQLCLNFARSLWYQQTLPPHEAK
HYLSLFLSCYQTGASLVTHFYPLMGVELNDRLLGSQLLACTLSHNTLFGE
APSDLMVKPDGPYDFYQHPNVPEARQCQPVLQGFSEAVSHLLQDWPEHPA
LEQLLVVMDRIRSFPLSSPISKFLNGLEILLAKAQDWEENASRALSLRKH
LDLISQMIIRWRKLELNCWSMSLDNTMKRHTEKSTKHWFSIYQMLEKHMQ
EQTEEQEDDKQMTLMLLVSTLQAFIEGSSLGEFHVRLQMLLVFHCHVLLM
PQVEGKDSLCSVLWNLYHYYKQFFDRVQAKIVELRSPLEKELKEFVKISK
WNDVSFWSIKQSVEKTHRTLFKFMKKFEAVLSEPCRSSLVESDKEEQPDF
LPRPTDGAASELSSIQNLNRALRETLLAQPAAGQATIPEWCQGAAPSGLE
GELLRRLPKLRKRMRKMCLTFMKESPLPRLVEGLDQFTGEVISSVSELQS
LKVEPSAEKEKQRSEAKHILMQKQRALSDLFKHLAKIGLSYRKGLAWARS
KNPQEMLHLHPLDLQSALSIVSSTQEADSRLLTEISSSWDGCQKYFYRSL
ARHARLNAALATPAKEMGMGNVERCRGFSAHLMKMLVRQRRSLTTLSEQW
IILRNLLSCVQEIHSRLMGPQAYPVAFPPQDGVQQWTERLQHLAMQCQIL
LEQLSWLLQCCPSVGPAPGHGNVQVLGQPPGPCLEGPELSKGQLCGVVLD
LIPSNLSYPSPIPGSQLPSGCRMRKQDHLWQQSTTRLTEMLKTIKTVKAD
VDKIRQQSCETLFHSWKDFEVCSSALSCLSQVSVHLQGLESLFILPGMEV
EQRDSQMALVESLEYVRGEISKAMADFTTWKTHLLTSDSQGGNQMLDEGF
VEDFSEQMEIAIRAILCAIQNLEERKNEKAEENTDQASPQEDYAGFERLQ
SGHLTKLLEDDFWADVSTLHVQKIISAISELLERLKSYGEDGTAAKHLFF
SQSCSLLVRLVPVLSSYSDLVLFFLTMSLATHRSTAKLLSVLAQVFTELA
QKGFCLPKEFMEDSAGEGATEFHDYEGGGIGEGEGMKDVSDQIGNEEQVE
DTFQKGQEKDKEDPDSKSDIKGEDNAIEMSEDFDGKMHDGELEEQEEDDE
KSDSEGGDLDKHMGDLNGEEADKLDERLWGDDDEEEDEEEEDNKTEETGP
GMDEEDSELVAKDDNLDSGNSNKDKSQQDKKEEKEEAEADDGGQGEDKIN
EQIDERDYDENEVDPYHGNQEKVPEPEALDLPDDLNLDSEDKNGGEDTDN
EEGEEENPLEIKEKPEEAGHEAEERGETETDQNESQSPQEPEEGPSEDDK
AEGEEEMDTGADDQDGDAAQHPEEHSEEQQQSVEEKDKEADEEGGENGPA
DQGFQPQEEEEREDSDTEEQVPEALERKEHASCGQTGVENMQNTQAMELA
GAAPEKEQGKEEHGSGAADANQAEGHESNFIAQLASQKHTRKNTQSFKRK
PGQADNERSMGDHNERVHKRLRTVDTDSHAEQGPAQQPQAQVEDADAFEH
IKQGSDAYDAQTYDVASKEQQQSAKDSGKDQEEEEIEDTLMDTEEQEEFK
AADVEQLKPEEIKSGTTAPLGFDEMEVEIQTVKTEEDQDPRTDKAHKETE
NEKPERSRESTIHTAHQFLMDTIFQPFLKDVNELRQELERQLEMWQPRES
GNPEEEKVAAEMWQSYLILTAPLSQRLCEELRLILEPTQAAKLKGDYRTG
KRLNIRKVIPYIASQFRKDKIWLRRTKPSKRQYQICLAIDDSSSMVDNHT
KQLAFESLAVIGNALTLLEVGQIAVCSFGESVKLLHPFHEQFSDYSGSQI
LRLCKFQQKKTKIAQFLESVANMFAAAQQLSQNISSETAQLLLVVSDGRG
LFLEGKERVLAAVQAARNANIFVIFVVLDNPSSRDSILDIKVPIFKGPGE
MPEIRSYMEEFPFPYYIILRDVNALPETLSDALRQWFELVTASDHP

Modelni organizmi

uredi
Fenotip Mdn1 nokaut-miša
Svojstvo Fenotip
Vijabilnost homozigota Nenormalan
Studija recesivne letalnosti Nenormalan
Plodnost Normalan
Tjelesna težina Normalan
Anksioznost otvorenog polja Normalan
Neurološka procjena Normalan
Snaga stiska Normalan
Test vruće ploče Normalan
Dismorfologija Normalan
Indirektna kalorimetrija Normalan
Test tolerancije glukoze Normalan
Slušni odgovor moždanog stabla Normalan
DEXA Normalan
Radiografija Normalan
Tjelesna temperatura Normalan
Morfologija oka Normalan
Klinička hemija Normalan
Plazmatski imunoglobulini Normalan
Hematologija Normalan
Limfociti periferne krvi Normalan
Težina srca Normalan
Histopatologija mozga Normalan
Salmonella infekcija Normalan[7]
Citrobacter infekcija Nenormalan[8]
Svi testovi i analize su prema:[9][10]

Urađena su 24 testa na mutantnim miševima i primijećene su tri značajne abnormalnosti. Nijedan homozigotni mutantni embrion nije identificiran tokom gestacije, pa nijedan nije preživio do odvikavanja. Preostali testovi su provedeni na heterozigotnim mutantnim odraslim miševima; ženke su imale povećanu osjetljivost na bakterijsku infekciju.

Reference

uredi
  1. ^ a b c ENSG00000288121 GRCh38: Ensembl release 89: ENSG00000112159, ENSG00000288121 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058006 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: MDN1, midasin homolog (yeast)". Pristupljeno 20. 9. 2011.
  6. ^ "UniProt, Q9NU22" (jezik: engleski). Pristupljeno 8. 10. 2021.
  7. ^ "Salmonella infection data for Mdn1". Wellcome Trust Sanger Institute.
  8. ^ "Citrobacter infection data for Mdn1". Wellcome Trust Sanger Institute.
  9. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  10. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.

Dopunska literatura

uredi

Garbarino, J. E.; Gibbons, I. R. (2002). "Expression and genomic analysis of midasin, a novel and highly conserved AAA protein distantly related to dynein". BMC Genomics. 3: 18. doi:10.1186/1471-2164-3-18. PMC 117441. PMID 12102729. Van De Wijngaart, D. J.; Dubbink, H. J.; Molier, M.; De Vos, C.; Trapman, J.; Jenster, G. (2009). "Functional Screening of FxxLF-Like Peptide Motifs Identifies SMARCD1/BAF60a as an Androgen Receptor Cofactor that Modulates TMPRSS2 Expression". Molecular Endocrinology. 23 (11): 1776–1786. doi:10.1210/me.2008-0280. PMC 5419170. PMID 19762545.

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