PRSS56

PRSS56
Identifikatori
Aliasi	PRSS56
Vanjski ID-jevi	OMIM: 613858 MGI: 1916703 HomoloGene: 79885 GeneCards: PRSS56
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	232,525,716 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	87,116,127 bp
Ontologija gena
Molekularna funkcija	• serine-type endopeptidase activity; • GO:0070122 peptidase activity; • hydrolase activity; • serine-type peptidase activity;
Ćelijska komponenta	• Endoplazmatski retikulum; • Vanćelijsko;
Biološki proces	• Proteoliza; • camera-type eye development;
	Izvori:Amigo / QuickGO
Ortolozi
	646960
	69453
	ENSG00000237412
	ENSMUSG00000036480
	P0CW18
	F2YMG0
	NM_001195129; NM_001369848
	NM_027084
	NP_001182058; NP_001356777
	NP_081360
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Pretpostavljena serin-proteaza 56 (PRSS56) jest enzim koji je kod ljudi kodiran genom PRSS56 sa hromosoma 2. Ovaj protein uključen je u razvoj ljudskih očiju.

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 603 aminokiseline, a molekulska težina 64.597 Da.^[5].

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
MLLAVLLLLP	LPSSWFAHGH	PLYTRLPPSA	LQVLSAQGTQ	ALQAAQRSAQ
WAINRVAMEI	QHRSHECRGS	GRPRPQALLQ	DPPEPGPCGE	RRPSTANVTR
AHGRIVGGSA	APPGAWPWLV	RLQLGGQPLC	GGVLVAASWV	LTAAHCFVGA
PNELLWTVTL	AEGSRGEQAE	EVPVNRILPH	PKFDPRTFHN	DLALVQLWTP
VSPGGSARPV	CLPQEPQEPP	AGTACAIAGW	GALFEDGPEA	EAVREARVPL
LSTDTCRRAL	GPGLRPSTML	CAGYLAGGVD	SCQGDSGGPL	TCSEPGPRPR
EVLFGVTSWG	DGCGEPGKPG	VYTRVAVFKD	WLQEQMSASS	SREPSCRELL
AWDPPQELQA	DAARLCAFYA	RLCPGSQGAC	ARLAHQQCLQ	RRRRCELRSL
AHTLLGLLRN	AQELLGPRPG	LRRLAPALAL	PAPALRESPL	HPARELRLHS
GSRAAGTRFP	KRRPEPRGEA	NGCPGLEPLR	QKLAALQGAH	AWILQVPSEH
LAMNFHEVLA	DLGSKTLTGL	FRAWVRAGLG	GRHVAFSGLV	GLEPATLARS
LPRLLVQALQ	AFRVAALAEG	EPEGPWMDVG	QGPGLERKGH	HPLNPQVPPA
RQP

Genomika

Gen se nalazi na dugom kraku hromosoma 2 (2q37.1). Kodirani protein je dug 603 aminokiselinska ostatka sa predviđenom molekulskom težinom od 64.597 daltona.

Protein sadrži domen peptidaze S1 i ima tripsinsku aktivnost poput serin-proteaze.

Klinički značaj

Mutacije ovog gena uzrokuju autosomno recesivni stražnji mikroftalmus.^[6]^[7]^[8] Kliničke karakteristike ovog stanja uključuju ekstremnu hiperopiju, zbog kratke aksijalne dužine sa suštinski normalnim prednjim segmentom, strme zakrivljenosti rožnjača, plitku prednju komoru, debela sočiva i zadebljane zidove sklere. Palpebralne pukotine izgledaju uske zbog relativno duboko postavljenih očiju. Oštrina vida je blago do umjereno smanjena, a česta je anizometropska ili strabizamska ambliopija. Fundus oka pokazuje pretrpane optičke diskove, krivudave sudove i abnormalnu avaskularnu zonu fovea.

Model bolesti

Homozigotni miševi za mutaciju izazvanu ENU pokazuju povećan unutaročni pritisak, smanjenje aksijalne dužine oka i uske iridorožnjačne uglove. Oči osoba sa glaukomom zatvorenog ugla (ACG) često imaju skromno smanjenu aksijalnu dužinu, plitku prednju komoru i relativno veliko sočivo, karakteristike koje predisponiraju zatvaranju kuta. Homozigotni miševi model ACG.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000237412 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036480 - 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.
^ "UniProt, P0CW18" (jezik: engleski). Pristupljeno 18. 11. 2021.
^ Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T (mart 2011). "Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease". American Journal of Human Genetics. 88 (3): 382–90. doi:10.1016/j.ajhg.2011.02.006. PMC 3059417. PMID 21397065.
^ ^a ^b Nair KS, Hmani-Aifa M, Ali Z, Kearney AL, Ben Salem S, Macalinao DG, Cosma IM, Bouassida W, Hakim B, Benzina Z, Soto I, Söderkvist P, Howell GR, Smith RS, Ayadi H, John SW (juni 2011). "Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice". Nature Genetics. 43 (6): 579–84. doi:10.1038/ng.813. PMC 4388060. PMID 21532570.
^ Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M (oktobar 2013). "Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene". Gene. 528 (2): 288–94. doi:10.1016/j.gene.2013.06.045. PMID 23820083.

Vanjski linkovi

Šablon:Patologija oka

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000237412 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036480 - 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.

[UniProt-5] "UniProt, P0CW18" (jezik: engleski). Pristupljeno 18. 11. 2021.

[Gal2011-6] Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T (mart 2011). "Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease". American Journal of Human Genetics. 88 (3): 382–90. doi:10.1016/j.ajhg.2011.02.006. PMC 3059417. PMID 21397065.

[Nair2011-7] Nair KS, Hmani-Aifa M, Ali Z, Kearney AL, Ben Salem S, Macalinao DG, Cosma IM, Bouassida W, Hakim B, Benzina Z, Soto I, Söderkvist P, Howell GR, Smith RS, Ayadi H, John SW (juni 2011). "Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice". Nature Genetics. 43 (6): 579–84. doi:10.1038/ng.813. PMC 4388060. PMID 21532570.

[Said2013-8] Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M (oktobar 2013). "Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene". Gene. 528 (2): 288–94. doi:10.1016/j.gene.2013.06.045. PMID 23820083.

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