FAM20A

FAM20A
Identifikatori
Aliasi	FAM20A
Vanjski ID-jevi	OMIM: 611062 MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	68,601,367 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	109,613,105 bp
Ontologija gena
Molekularna funkcija	• protein serine/threonine kinase activity; • protein serine/threonine kinase activator activity; • GO:0001948, GO:0016582 vezivanje za proteine; • phosphotransferase activity, alcohol group as acceptor;
Ćelijska komponenta	• extracellular region; • Egzosom; • Endoplazmatski retikulum; • Vanćelijsko; • Golđijev aparat;
Biološki proces	• biomineral tissue development; • enamel mineralization; • positive regulation of protein phosphorylation; • calcium ion homeostasis; • tooth eruption; • positive regulation of protein serine/threonine kinase activity; • protein phosphorylation; • response to bacterium;
	Izvori:Amigo / QuickGO
Ortolozi
	54757
	208659
	ENSG00000108950
	ENSMUSG00000020614
	Q96MK3
	Q8CID3
	NM_001243746; NM_017565
	NM_153782
	NP_001230675; NP_060035
	NP_722477
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

FAM20A je protein koji je kod ljudi kodiran genom FAM20A.^[5]

Dužina polipeptidnog lanca je 541 aminokiselinu, sa molekulskom težinom od 61.417^[6].

Aminokiselinska sekvenca

Simboli

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
MPGLRRDRLL	TLLLLGALLS	ADLYFHLWPQ	VQRQLRPRER	PRGCPCTGRA
SSLARDSAAA	ASDPGTIVHN	FSRTEPRTEP	AGGSHSGSSS	KLQALFAHPL
YNVPEEPPLL	GAEDSLLASQ	EALRYYRRKV	ARWNRRHKMY	REQMNLTSLD
PPLQLRLEAS	WVQFHLGINR	HGLYSRSSPV	VSKLLQDMRH	FPTISADYSQ
DEKALLGACD	CTQIVKPSGV	HLKLVLRFSD	FGKAMFKPMR	QQRDEETPVD
FFYFIDFQRH	NAEIAAFHLD	RILDFRRVPP	TVGRIVNVTK	EILEVTKNEI
LQSVFFVSPA	SNVCFFAKCP	YMCKTEYAVC	GNPHLLEGSL	SAFLPSLNLA
PRLSVPNPWI	RSYTLAGKEE	WEVNPLYCDT	VKQIYPYNNS	QRLLNVIDMA
IFDFLIGNMD	RHHYEMFTKF	GDDGFLIHLD	NARGFGRHSH	DEISILSPLS
QCCMIKKKTL	LHLQLLAQAD	YRLSDVMRES	LLEDQLSPVL	TEPHLLALDR
RLQTILRTVE	GCIVAHGQQS	VIVDGPVEQL	APDSGQANLT	S

Funkcija

FAM20A pripada porodici evolucijski konzerviranih lučenih proteina eksprimiranih u mnogim tkivima. Ovaj lokus kodira protein koji se vjerovatno luči i može funkcionirati u hematopoezi.^[7] Mutacija na ovom lokusu povezana je sa bolešću amelogenesis imperfecta i sindromom hiperplazije desni (gingiva). Utvrđene su alternativno prerađene varijante transkripata. [RefSeq, avgust 2011.]

Klinički značaj

Izvješteno je da je mutacija u FAM20A povezana sa amelogenesis imperfecta, nasljednim defektom cakline i sindromom hiperplazija desni.^[8]

Izvješteno je i da mutacije u FAM20A kod ljudi uzrokuju sindrom cakline i bubrega, autosomno recesivni poremećaj koji se karakterizira ozbiljnom hipoplazijom cakline, neuspjelom nicanjem zuba, intrapulpnim kalcifikacijama, povećanom gingivom i nefrokalcinozom.^[9]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020614 - 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 20".
^ "UniProt, Q96MK3". Pristupljeno 12. 9. 2017.
^ Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6 (1): 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076.
^ O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ (maj 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. doi:10.1016/j.ajhg.2011.04.005. PMC 3146735. PMID 21549343.
^ Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC (Feb 2013). "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. doi:10.1371/journal.pgen.1003302. PMC 3585120. PMID 23468644.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108950 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020614 - 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 20".

[UniProt-6] "UniProt, Q96MK3". Pristupljeno 12. 9. 2017.

[pmid15676076-7] Nalbant D, Youn H, Nalbant SI, Sharma S, Cobos E, Beale EG, Du Y, Williams SC (2005). "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells". BMC Genomics. 6 (1): 11. doi:10.1186/1471-2164-6-11. PMC 548683. PMID 15676076.

[pmid21549343-8] O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ (maj 2011). "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome". Am. J. Hum. Genet. 88 (5): 616–20. doi:10.1016/j.ajhg.2011.04.005. PMC 3146735. PMID 21549343.

[pmid23468644-9] Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC (Feb 2013). "FAM20A mutations can cause enamel-renal syndrome (ERS)". PLOS Genet. 9 (2): e1003302. doi:10.1371/journal.pgen.1003302. PMC 3585120. PMID 23468644.

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