REPIN1

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REPIN1
Identifikatori
AliasiREPIN1
Vanjski ID-jeviMGI: 1889817 HomoloGene: 22810 GeneCards: REPIN1
Lokacija gena (čovjek)
Hromosom 7 (čovjek)
Hrom.Hromosom 7 (čovjek)[1]
Hromosom 7 (čovjek)
Genomska lokacija za REPIN1
Genomska lokacija za REPIN1
Bend7q36.1Početak150,368,189 bp[1]
Kraj150,374,044 bp[1]
Lokacija gena (miš)
Hromosom 6 (miš)
Hrom.Hromosom 6 (miš)[2]
Hromosom 6 (miš)
Genomska lokacija za REPIN1
Genomska lokacija za REPIN1
Bend6|6 B2.3Početak48,570,817 bp[2]
Kraj48,576,016 bp[2]
Ontologija gena
Molekularna funkcija vezivanje sa DNK
vezivanje iona metala
nucleic acid binding
vezivanje sa RNK
Ćelijska komponenta nuclear origin of replication recognition complex
jedro
Biološki proces Replikacija DNK
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001099695
NM_001099696
NM_013400
NM_014374
NM_001362745

NM_001362746
NM_001362747

NM_001079901
NM_001079902
NM_001079903
NM_001079904
NM_001079905

NM_175099

RefSeq (bjelančevina)
NP_001093165
NP_001093166
NP_037532
NP_001349674
NP_001349675

NP_001349676

NP_001073370
NP_001073371
NP_001073372
NP_001073373
NP_001073374

NP_780308

Lokacija (UCSC)Chr 7: 150.37 – 150.37 MbChr 6: 48.57 – 48.58 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Replikacijski inicijator 1 jest protein koji je kod ljudi kodiran genom REPIN1.[5][6]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 567 aminokiselina, а molekulska težina 63.575 Da.[7]

1020304050
MLERRCRGPLAMGLAQPRLLSGPSQESPQTLGKESRGLRQQGTSVAQSGA
QAPGRAHRCAHCRRHFPGWVALWLHTRRCQARLPLPCPECGRRFRHAPFL
ALHRQVHAAATPDLGFACHLCGQSFRGWVALVLHLRAHSAAKRPIACPKC
ERRFWRRKQLRAHLRRCHPPAPEARPFICGNCGRSFAQWDQLVAHKRVHV
AEALEEAAAKALGPRPRGRPAVTAPRPGGDAVDRPFQCACCGKRFRHKPN
LIAHRRVHTGERPHQCPECGKRFTNKPYLTSHRRIHTGEKPYPCKECGRR
FRHKPNLLSHSKIHKRSEGSAQAAPGPGSPQLPAGPQESAAEPTPAVPLK
PAQEPPPGAPPEHPQDPIEAPPSLYSCDDCGRSFRLERFLRAHQRQHTGE
RPFTCAECGKNFGKKTHLVAHSRVHSGERPFACEECGRRFSQGSHLAAHR
RDHAPDRPFVCPDCGKAFRHKPYLAAHRRIHTGEKPYVCPDCGKAFSQKS
NLVSHRRIHTGERPYACPDCDRSFSQKSNLITHRKSHIRDGAFCCAICGQ
TFDDEERLLAHQKKHDV

Modelni organizmi[uredi | uredi izvor]

U studiji funkcije proteina REPIN1 upotrebljeni su i modelni organizmi. Uvjetna linija nokaut-miševa zvana Repin1tm1a(EUCOMM)Wtsi geneirana je na Institutu Wellcome Trust Sanger.[8] Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom skriningu[9] za određivanje efekata delecije.[10][11][12][13] Izvršeni su dodatni pregledi dubinskom imunološkom fenotipizacijom:[14]

Fenotip Repin1 nokaut-miševa
Svojstvo Fenotip
Svi podaci su prema:[9][14]
Leukociti periferne krvi 6 sedmica Nenormalan
Insulin Normalan
Hematologija 6 sedmica Normalan
Vijabilnost homozigota na P14 Normalan
plodnost homozigot Normalan
Tjelesna težina Normalan
Neurološka procjena Normalan
Snaga stiska Normalan
Dismorfologija Normalan
Indirektna kalorimetrija Nenormalan
Test tolerancije glukoze Normalan
Slušni odgovor moždanog stabla Normalan
DEXA Normalan
Radiografija Normalan
Morfologija oka Normalan
Klinička hemija Normalan
Hematologija 16 sedmica Normalan
Leukociti periferne krvi 16 sedmica Normalan
Težina srca Normalan
Salmonella-infekcija Normalan
Funkcija citotoksičnih T-ćelija Normalan
Imunofenotipizacija slezene Normalan
Imunofenotipizacija mezenternog limfnog čvora Normalan
Imunofenotipizacija koštane srži Normalan
Kompozicija epidermne imunosti Normalan

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000214022 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052751 - 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. ^ Houchens CR, Montigny W, Zeltser L, Dailey L, Gilbert JM, Heintz NH (Jan 2000). "The dhfr oribeta-binding protein RIP60 contains 15 zinc fingers: DNA binding and looping by the central three fingers and an associated proline-rich region". Nucleic Acids Research. 28 (2): 570–81. doi:10.1093/nar/28.2.570. PMC 102514. PMID 10606657.
  6. ^ "Entrez Gene: REPIN1 replication initiator 1".
  7. ^ "UniProt, Q9BWE0" (jezik: engleski). Pristupljeno 28. 9. 2021.
  8. ^ 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.
  9. ^ a b "International Mouse Phenotyping Consortium".
  10. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  13. ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  14. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".[mrtav link]

Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]