PRSS56

PRSS56
Identifikatori
AliasiPRSS56
Vanjski ID-jeviOMIM: 613858 MGI: 1916703 HomoloGene: 79885 GeneCards: PRSS56
Lokacija gena (čovjek)
Hromosom 2 (čovjek)
Hrom.Hromosom 2 (čovjek)[1]
Hromosom 2 (čovjek)
Genomska lokacija za PRSS56
Genomska lokacija za PRSS56
Bend2q37.1Početak232,520,388 bp[1]
Kraj232,525,716 bp[1]
Lokacija gena (miš)
Hromosom 1 (miš)
Hrom.Hromosom 1 (miš)[2]
Hromosom 1 (miš)
Genomska lokacija za PRSS56
Genomska lokacija za PRSS56
Bend1|1 C5Početak87,111,035 bp[2]
Kraj87,116,127 bp[2]
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
VrsteČovjekMiš
Entrez

646960

69453

Ensembl

ENSG00000237412

ENSMUSG00000036480

UniProt

P0CW18

F2YMG0

RefSeq (mRNK)

NM_001195129
NM_001369848

NM_027084

RefSeq (bjelančevina)

NP_001182058
NP_001356777

NP_081360

Lokacija (UCSC)Chr 2: 232.52 – 232.53 MbChr 1: 87.11 – 87.12 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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].

1020304050
MLLAVLLLLPLPSSWFAHGHPLYTRLPPSALQVLSAQGTQALQAAQRSAQ
WAINRVAMEIQHRSHECRGSGRPRPQALLQDPPEPGPCGERRPSTANVTR
AHGRIVGGSAAPPGAWPWLVRLQLGGQPLCGGVLVAASWVLTAAHCFVGA
PNELLWTVTLAEGSRGEQAEEVPVNRILPHPKFDPRTFHNDLALVQLWTP
VSPGGSARPVCLPQEPQEPPAGTACAIAGWGALFEDGPEAEAVREARVPL
LSTDTCRRALGPGLRPSTMLCAGYLAGGVDSCQGDSGGPLTCSEPGPRPR
EVLFGVTSWGDGCGEPGKPGVYTRVAVFKDWLQEQMSASSSREPSCRELL
AWDPPQELQADAARLCAFYARLCPGSQGACARLAHQQCLQRRRRCELRSL
AHTLLGLLRNAQELLGPRPGLRRLAPALALPAPALRESPLHPARELRLHS
GSRAAGTRFPKRRPEPRGEANGCPGLEPLRQKLAALQGAHAWILQVPSEH
LAMNFHEVLADLGSKTLTGLFRAWVRAGLGGRHVAFSGLVGLEPATLARS
LPRLLVQALQAFRVAALAEGEPEGPWMDVGQGPGLERKGHHPLNPQVPPA
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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000237412 - Ensembl, maj 2017
  2. ^ a b c 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.
  5. ^ "UniProt, P0CW18" (jezik: engleski). Pristupljeno 18. 11. 2021.
  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.
  7. ^ 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.
  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.

Vanjski linkovi

Šablon:Patologija oka

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