Homolog A disko-interaktivnog proteina 2 jest protein koji je kod ljudi kodiran genom DIP2A sa hromosoma 21.[5]

DIP2A
Identifikatori
AliasiDIP2A
Vanjski ID-jeviOMIM: 607711 MGI: 2385920 HomoloGene: 41012 GeneCards: DIP2A
Lokacija gena (čovjek)
Hromosom 21 (čovjek)
Hrom.Hromosom 21 (čovjek)[1]
Hromosom 21 (čovjek)
Genomska lokacija za DIP2A
Genomska lokacija za DIP2A
Bend21q22.3Početak46,458,891 bp[1]
Kraj46,570,015 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za DIP2A
Genomska lokacija za DIP2A
Bend10 C1|10 38.76 cMPočetak76,095,263 bp[2]
Kraj76,181,125 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija catalytic activity
GO:0001948, GO:0016582 vezivanje za proteine
Ćelijska komponenta jedro
cell surface
Biološki proces multicellular organism development
negative regulation of gene expression
metabolizam
regulation of apoptotic process
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001146114
NM_001146115
NM_001146116
NM_015151
NM_206889

NM_206890
NM_206891
NM_001353942
NM_001353943
NM_001353944

NM_001081419

RefSeq (bjelančevina)
NP_001139587
NP_001139588
NP_055966
NP_996772
NP_996773

NP_996774
NP_001340871
NP_001340872
NP_001340873

NP_001074888

Lokacija (UCSC)Chr 21: 46.46 – 46.57 MbChr 10: 76.1 – 76.18 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 1.571 aminokiselina, a molekulska težina 170.369 Da.[5]

1020304050
MADRGCPLEAAPLPAEVRESLAELELELSEGDITQKGYEKKRAKLLARYI
PLIQGIDPSLQAENRIPGPSQTTAAAPKQQKSRPTASRDERFRSDVHTEA
VQAALAKYKERKMPMPSKRRSVLVHSSVETYTPPDTSSASEDEGSLRRPG
RLTSTPLQSHSSVEPWLDRVIQGSSTSSSASSTSSHPGGRPTTAPSAAAT
PGAAATTALAGLEAHTHIDLHSAPPDVTTGLVEHSYFERPQVASVRSVPR
GCSGSMLETADGVPVNSRVSSKIQQLLNTLKRPKRPPLKEFFVDDFEELL
EVQQPDPNQPKPEGSETSVLRGEPLTAGVPRPPSLLATLQRWGTTQPKSP
CLTALDTTGKAVYTLTYGKLWSRSLKLAYTLLNKLTSKNEPLLKPGDRVA
LVFPNSDPVMFMVAFYGCLLAELVPVPIEVPLTRKDAGSQQVGFLLGSCG
VFLALTTDACQKGLPKAQTGEVAAFKGWPPLSWLVIDGKHLAKPPKDWHP
LAQDTGTGTAYIEYKTSKEGSTVGVTVSHASLLAQCRALTQACGYSEAET
LTNVLDFKRDAGLWHGVLTSVMNRMHVVSVPYALMKANPLSWIQKVCFYK
ARAALVKSRDMHWSLLAQRGQRDVSLSSLRMLIVADGANPWSISSCDAFL
NVFQSRGLRPEVICPCASSPEALTVAIRRPPDLGGPPPRKAVLSMNGLSY
GVIRVDTEEKLSVLTVQDVGQVMPGANVCVVKLEGTPYLCKTDEVGEICV
SSSATGTAYYGLLGITKNVFEAVPVTTGGAPIFDRPFTRTGLLGFIGPDN
LVFIVGKLDGLMVTGVRRHNADDVVATALAVEPMKFVYRGRIAVFSVTVL
HDDRIVLVAEQRPDASEEDSFQWMSRVLQAIDSIHQVGVYCLALVPANTL
PKAPLGGIHISETKQRFLEGTLHPCNVLMCPHTCVTNLPKPRQKQPEVGP
ASMIVGNLVAGKRIAQASGRELAHLEDSDQARKFLFLADVLQWRAHTTPD
HPLFLLLNAKGTVTSTATCVQLHKRAERVAAALMEKGRLSVGDHVALVYP
PGVDLIAAFYGCLYCGCVPVTVRPPHPQNLGTTLPTVKMIVEVSKSACVL
TTQAVTRLLRSKEAAAAVDIRTWPTILDTDDIPKKKIASVFRPPSPDVLA
YLDFSVSTTGILAGVKMSHAATSALCRSIKLQCELYPSRQIAICLDPYCG
LGFALWCLCSVYSGHQSVLVPPLELESNVSLWLSAVSQYKARVTFCSYSV
MEMCTKGLGAQTGVLRMKGVNLSCVRTCMVVAEERPRIALTQSFSKLFKD
LGLPARAVSTTFGCRVNVAICLQGTAGPDPTTVYVDMRALRHDRVRLVER
GSPHSLPLMESGKILPGVKVIIAHTETKGPLGDSHLGEIWVSSPHNATGY
YTVYGEEALHADHFSARLSFGDTQTIWARTGYLGFLRRTELTDASGGRHD
ALYVVGSLDETLELRGMRYHPIDIETSVIRAHRSIAECAVFTWTNLLVVV
VELDGLEQDALDLVALVTNVVLEEHYLVVGVVVIVDPGVIPINSRGEKQR
MHLRDGFLADQLDPIYVAYNM

Modelni organizmi uredi

U proučavanju funkcije DIP2A, korišteni su modelni organizmi. Uslovna nokaut-mišja linija pod nazivom Dip2atm2b(KOMP)Wtsi generirana je u Institutu Wellcome Trust Sanger.[6] Mužjaci i ženke podvrgnuti su standardizovanom fenotipskom pregledu[7] za određivanje efekata delecija.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

Fenotip Dip2a nokaut-miševa
Svojstvo Fenotip
Svi podari raspoloživi na linku:[7][12]
Leukociti periferne krvi 6 sedmica Normalan
Hematologija 6 sedmica Normalan
Insulin Normalan
Vijavilnost homozigota na P14 Normalan
Plodnost homozigota Normalan
Tjelesna težina Normalan
Neurološka procjena Normalan
Snaga stiska]] Normalan
Dismorfologija Normalan
Posredna 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 limfnog čvora Normalan
Imunofenotipizacija koštane srži Normalan
Anti-jedarni test na antitijela Normalan
Kompozicija epidermne imunosti Normalan
Izazov gripe Normaln

Također pogledajte uredi

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160305 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020231 - 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. ^ a b "Entrez Gene: DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila)".
  6. ^ 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.
  7. ^ a b "International Mouse Phenotyping Consortium".
  8. ^ 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.
  9. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  10. ^ 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.
  11. ^ 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, Sanger Institute Mouse Genetics Project, 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 (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.
  12. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".[mrtav link]

Dopunska literatura uredi