FAM73B

FAM73B
Identifikatori
AliasiMIGA2
Vanjski ID-jeviOMIM: 616774 MGI: 1922035 HomoloGene: 13125 GeneCards: MIGA2
Lokacija gena (čovjek)
Hromosom 9 (čovjek)
Hrom.Hromosom 9 (čovjek)[1]
Hromosom 9 (čovjek)
Genomska lokacija za FAM73B
Genomska lokacija za FAM73B
Bend9q34.11Početak129,036,621 bp[1]
Kraj129,072,082 bp[1]
Lokacija gena (miš)
Hromosom 2 (miš)
Hrom.Hromosom 2 (miš)[2]
Hromosom 2 (miš)
Genomska lokacija za FAM73B
Genomska lokacija za FAM73B
Bend2|2 BPočetak30,364,233 bp[2]
Kraj30,385,521 bp[2]
Ontologija gena
Molekularna funkcija GO:0001948, GO:0016582 vezivanje za proteine
protein homodimerization activity
protein heterodimerization activity
Ćelijska komponenta integral component of membrane
mitochondrial outer membrane
membrana
mitohondrija
integral component of plasma membrane
Biološki proces GO:1990613 mitochondrial fusion
bone development
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_032809
NM_001329990

NM_001242407
NM_175392

RefSeq (bjelančevina)

NP_001316919
NP_116198

NP_001229336
NP_780601
NP_001365835
NP_001365836
NP_001365838

NP_001365840
NP_001394213

Lokacija (UCSC)Chr 9: 129.04 – 129.07 MbChr 2: 30.36 – 30.39 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Član B porodice sa sličnošću sekvence 73, znan i kao FAM73B, jest ljudski gen.[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 593 aminokiseline, а molekulska težina 65.531 Da.[6]

1020304050
MAFRRAEGTSMIQALAMTVAEIPVFLYTTFGQSAFSQLRLTPGLRKVLFA
TALGTVALALAAHQLKRRRRRKKQVGPEMGGEQLGTVPLPILLARKVPSV
KKGYSSRRVQSPSSKSNDTLSGISSIEPSKHSGSSHSVASMMAVNSSSPT
AACSGLWDARGMEESLTTSDGNAESLYMQGMELFEEALQKWEQALSVGQR
GDSGSTPMPRDGLRNPETASEPLSEPESQRKEFAEKLESLLHRAYHLQEE
FGSTFPADSMLLDLERTLMLPLTEGSLRLRADDEDSLTSEDSFFSATELF
ESLQTGDYPIPLSRPAAAYEEALQLVKEGRVPCRTLRTELLGCYSDQDFL
AKLHCVRQAFEGLLEDKSNQLFFGKVGRQMVTGLMTKAEKSPKGFLESYE
EMLSYALRPETWATTRLELEGRGVVCMSFFDIVLDFILMDAFEDLENPPA
SVLAVLRNRWLSDSFKETALATACWSVLKAKRRLLMVPDGFISHFYSVSE
HVSPVLAFGFLGPKPQLAEVCAFFKHQIVQYLRDMFDLDNVRYTSLPALA
DDILQLSRRRSEILLGYLGVPAASSAGVNGALPRENGPLGELQ

Modelni organizmi

Fenotip Fam73b nokaut-miša
Svojstvo Fenotip
Vijabilnost homozigota Normalan
Plodnost homozigota Normalan
Tjeleska težina Nenormalan[7]
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 Nenormalan[8]
Radiografija Nenormalan[9]
Tjelesna temperatura Normalan
Morfologija oka Normalan
Klinička hemija Nenormalan[10]
Hematologija Normalan
Limfociti periferne krvi Normalan
Mikronukleus test Normalan
Težina srca Normalan
Histopatologija srca Normalan
MikroCT i kvantitativni faksitron Nenormalan
Salmonella infekcija Normalan[11]
Citrobacter infekcija Nenormalan[12]
Svi testovi i analize su prema izvorima[13][14]

U izbedenoj studiji proučavana je i funkcija FAM73B kod modelnih organizama. Uvjetna liniza nokaut-miševa, zvana Fam73btm1a(KOMP)Wtsi[15][16] generirana je kao dio programa Međunarodnog konzorcija za nokaut-miševe — visokoprohodnog projekta za mutagenezu koji generira i distribuira modele životinjskih bolesti zainteresiranim naučnicima.[17][18][19]

Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu kako bi se utvrdili efekti delecija.[13][20] Na mutantnim miševima provedena su 24 ispitivanja i uočeno je šest značajnih abnormalnosti. Homozigotne mutirane životinje imale su smanjenu tjelesnu težinu, promijenjeni sastav tijela, abnormalnu morfologiju zuba, hipoalbuminemiju, smanjeni sadržaj i snagu koštanih minerala i povećanu osjetljivost na bakterijsku infekciju.[13]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148343 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026858 - 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: family with sequence similarity 73, member B". Pristupljeno 30. 8. 2011.
  6. ^ "UniProt, Q7L4E1". Pristupljeno 8. 9. 2021.
  7. ^ "Body weight data for Fam73b". Wellcome Trust Sanger Institute.
  8. ^ "DEXA data for Fam73b". Wellcome Trust Sanger Institute.
  9. ^ "Radiography data for Fam73b". Wellcome Trust Sanger Institute.
  10. ^ "Clinical chemistry data for Fam73b". Wellcome Trust Sanger Institute.
  11. ^ "Salmonella infection data for Fam73b". Wellcome Trust Sanger Institute.
  12. ^ "Citrobacter infection data for Fam73b". Wellcome Trust Sanger Institute.
  13. ^ a b c 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.
  14. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  15. ^ "International Knockout Mouse Consortium". Arhivirano s originala, 29. 5. 2012. Pristupljeno 8. 9. 2021.
  16. ^ "Mouse Genome Informatics".
  17. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  18. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  19. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  20. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Dopunska literatura

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