FAM73B

FAM73B
Identifikatori
Aliasi	MIGA2
Vanjski ID-jevi	OMIM: 616774 MGI: 1922035 HomoloGene: 13125 GeneCards: MIGA2
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	129,072,082 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	30,385,521 bp
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
	84895
	108958
	ENSG00000148343
	ENSMUSG00000026858
	Q7L4E1
	Q8BK03
	NM_032809; NM_001329990
	NM_001242407; NM_175392
	NP_001316919; NP_116198
NP_001229336; NP_780601; NP_001365835; NP_001365836; NP_001365838;
	NP_001365840; NP_001394213
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/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]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MAFRRAEGTS	MIQALAMTVA	EIPVFLYTTF	GQSAFSQLRL	TPGLRKVLFA
TALGTVALAL	AAHQLKRRRR	RKKQVGPEMG	GEQLGTVPLP	ILLARKVPSV
KKGYSSRRVQ	SPSSKSNDTL	SGISSIEPSK	HSGSSHSVAS	MMAVNSSSPT
AACSGLWDAR	GMEESLTTSD	GNAESLYMQG	MELFEEALQK	WEQALSVGQR
GDSGSTPMPR	DGLRNPETAS	EPLSEPESQR	KEFAEKLESL	LHRAYHLQEE
FGSTFPADSM	LLDLERTLML	PLTEGSLRLR	ADDEDSLTSE	DSFFSATELF
ESLQTGDYPI	PLSRPAAAYE	EALQLVKEGR	VPCRTLRTEL	LGCYSDQDFL
AKLHCVRQAF	EGLLEDKSNQ	LFFGKVGRQM	VTGLMTKAEK	SPKGFLESYE
EMLSYALRPE	TWATTRLELE	GRGVVCMSFF	DIVLDFILMD	AFEDLENPPA
SVLAVLRNRW	LSDSFKETAL	ATACWSVLKA	KRRLLMVPDG	FISHFYSVSE
HVSPVLAFGF	LGPKPQLAEV	CAFFKHQIVQ	YLRDMFDLDN	VRYTSLPALA
DDILQLSRRR	SEILLGYLGV	PAASSAGVNG	ALPRENGPLG	ELQ

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 Fam73b^{tm1a(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 2 3 GRCh38: Ensembl release 89: ENSG00000148343 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026858 - Ensembl, maj 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: family with sequence similarity 73, member B". Pristupljeno 30. 8. 2011.
↑ "UniProt, Q7L4E1". Pristupljeno 8. 9. 2021.
↑ "Body weight data for Fam73b". Wellcome Trust Sanger Institute.
↑ "DEXA data for Fam73b". Wellcome Trust Sanger Institute.
↑ "Radiography data for Fam73b". Wellcome Trust Sanger Institute.
↑ "Clinical chemistry data for Fam73b". Wellcome Trust Sanger Institute.
↑ "Salmonella infection data for Fam73b". Wellcome Trust Sanger Institute.
↑ "Citrobacter infection data for Fam73b". Wellcome Trust Sanger Institute.
1 2 3 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.
↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
↑ "International Knockout Mouse Consortium". Arhivirano s originala, 29. 5. 2012. Pristupljeno 8. 9. 2021.
↑ "Mouse Genome Informatics".
↑ 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.
↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
↑ 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.
↑ 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

Otsuki T, Ota T, Nishikawa T, et al. (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000148343 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: family with sequence similarity 73, member B". Pristupljeno 30. 8. 2011.

[UniProt-6] "UniProt, Q7L4E1". Pristupljeno 8. 9. 2021.

[Body_weight-7] "Body weight data for Fam73b". Wellcome Trust Sanger Institute.

[DEXA-8] "DEXA data for Fam73b". Wellcome Trust Sanger Institute.

[Radiography-9] "Radiography data for Fam73b". Wellcome Trust Sanger Institute.

[Clinical_chemistry-10] "Clinical chemistry data for Fam73b". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-11] "Salmonella infection data for Fam73b". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-12] "Citrobacter infection data for Fam73b". Wellcome Trust Sanger Institute.

[mgp_reference-13] 1 2 3 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.

[allele_ref-15] "International Knockout Mouse Consortium". Arhivirano s originala, 29. 5. 2012. Pristupljeno 8. 9. 2021.

[mgi_allele_ref-16] "Mouse Genome Informatics".

[pmid21677750-17] 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.

[mouse_library-18] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-20] 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.

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