PXDN

PXDN
Identifikatori
Aliasi	PXDN
Vanjski ID-jevi	OMIM: 605158 MGI: 1916925 HomoloGene: 33907 GeneCards: PXDN
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	1,744,852 bp
Lokacija gena (miš)
Hrom.	Hromosom 12 (miš)
Kraj	30,067,657 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• oxidoreductase activity; • extracellular matrix structural constituent; • heme binding; • interleukin-1 receptor antagonist activity; • vezivanje iona metala; • peroxidase activity;
Ćelijska komponenta	• GO:0005578 Vanćelijski matriks; • Egzosom; • Endoplazmatski retikulum; • Vanćelijsko; • extracellular region; • collagen-containing extracellular matrix;
Biološki proces	• extracellular matrix organization; • GO:0001306 response to oxidative stress; • GO:0046730, GO:0046737, GO:0046738, GO:0046736 Imuni odgovor; • hydrogen peroxide catabolic process; • cellular oxidant detoxification; • negative regulation of cytokine-mediated signaling pathway;
	Izvori:Amigo / QuickGO
Ortolozi
	7837
	69675
	ENSG00000130508
	ENSMUSG00000020674
	Q92626
	Q3UQ28
	NM_012293
	NM_181395; NM_177804
	NP_036425
	NP_852060
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Peroksidazinski homolog jest protein koji je kod ljudi kodiran genom PXDN sa hromosoma 2.^[5]^[6]^[7]

Amiokiselininska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 1.479 aminokiselina, a molekulska težina 165.275 Da.^[8]

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
MAKRSRGPGR	RCLLALVLFC	AWGTLAVVAQ	KPGAGCPSRC	LCFRTTVRCM
HLLLEAVPAV	APQTSILDLR	FNRIREIQPG	AFRRLRNLNT	LLLNNNQIKR
IPSGAFEDLE	NLKYLYLYKN	EIQSIDRQAF	KGLASLEQLY	LHFNQIETLD
PDSFQHLPKL	ERLFLHNNRI	THLVPGTFNH	LESMKRLRLD	SNTLHCDCEI
LWLADLLKTY	AESGNAQAAA	ICEYPRRIQG	RSVATITPEE	LNCERPRITS
EPQDADVTSG	NTVYFTCRAE	GNPKPEIIWL	RNNNELSMKT	DSRLNLLDDG
TLMIQNTQET	DQGIYQCMAK	NVAGEVKTQE	VTLRYFGSPA	RPTFVIQPQN
TEVLVGESVT	LECSATGHPP	PRISWTRGDR	TPLPVDPRVN	ITPSGGLYIQ
NVVQGDSGEY	ACSATNNIDS	VHATAFIIVQ	ALPQFTVTPQ	DRVVIEGQTV
DFQCEAKGNP	PPVIAWTKGG	SQLSVDRRHL	VLSSGTLRIS	GVALHDQGQY
ECQAVNIIGS	QKVVAHLTVQ	PRVTPVFASI	PSDTTVEVGA	NVQLPCSSQG
EPEPAITWNK	DGVQVTESGK	FHISPEGFLT	INDVGPADAG	RYECVARNTI
GSASVSMVLS	VNVPDVSRNG	DPFVATSIVE	AIATVDRAIN	STRTHLFDSR
PRSPNDLLAL	FRYPRDPYTV	EQARAGEIFE	RTLQLIQEHV	QHGLMVDLNG
TSYHYNDLVS	PQYLNLIANL	SGCTAHRRVN	NCSDMCFHQK	YRTHDGTCNN
LQHPMWGASL	TAFERLLKSV	YENGFNTPRG	INPHRLYNGH	ALPMPRLVST
TLIGTETVTP	DEQFTHMLMQ	WGQFLDHDLD	STVVALSQAR	FSDGQHCSNV
CSNDPPCFSV	MIPPNDSRAR	SGARCMFFVR	SSPVCGSGMT	SLLMNSVYPR
EQINQLTSYI	DASNVYGSTE	HEARSIRDLA	SHRGLLRQGI	VQRSGKPLLP
FATGPPTECM	RDENESPIPC	FLAGDHRANE	QLGLTSMHTL	WFREHNRIAT
ELLKLNPHWD	GDTIYYETRK	IVGAEIQHIT	YQHWLPKILG	EVGMRTLGEY
HGYDPGINAG	IFNAFATAAF	RFGHTLVNPL	LYRLDENFQP	IAQDHLPLHK
AFFSPFRIVN	EGGIDPLLRG	LFGVAGKMRV	PSQLLNTELT	ERLFSMAHTV
ALDLAAINIQ	RGRDHGIPPY	HDYRVYCNLS	AAHTFEDLKN	EIKNPEIREK
LKRLYGSTLN	IDLFPALVVE	DLVPGSRLGP	TLMCLLSTQF	KRLRDGDRLW
YENPGVFSPA	QLTQIKQTSL	ARILCDNADN	ITRVQSDVFR	VAEFPHGYGS
CDEIPRVDLR	VWQDCCEDCR	TRGQFNAFSY	HFRGRRSLEF	SYQEDKPTKK
TRPRKIPSVG	RQGEHLSNST	SAFSTRSDAS	GTNDFREFVL	EMQKTITDLR
TQIKKLESRL	STTECVDAGG	ESHANNTKWK	KDACTICECK	DGQVTCFVEA
CPPATCAVPV	NIPGACCPVC	LQKRAEEKP

Funkcija[uredi | uredi izvor]

Peroksidazinu je potreban ionski brom kao kofaktor, što brom čini esencijalnim elementom za ljudski život.^[9]

Klinički značaj[uredi | uredi izvor]

Mutacije u PXDN su povezane sa mikroftalmijom.^[10]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000130508 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020674 - 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.
^ Horikoshi N, Cong J, Kley N, Shenk T (Sep 1999). "Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene". Biochem Biophys Res Commun. 261 (3): 864–9. doi:10.1006/bbrc.1999.1123. PMID 10441517.
^ Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (maj 1997). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Res. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.
^ "Entrez Gene: PXDN peroxidasin homolog (Drosophila)".
^ "UniProt, Q92626" (jezik: engleski). Pristupljeno 14. 11. 2021.
^ McCall AS, Cummings CF, Bhave G, Vanacore R, Page-McCaw A, Hudson BG (juni 2014). "Bromine is an essential trace element for assembly of collagen IV scaffolds in tissue development and architecture". Cell. 157 (6): 1380–92. doi:10.1016/j.cell.2014.05.009. PMC 4144415. PMID 24906154.
^ Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A (2014). "Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis". European Journal of Human Genetics. 23 (3): 337–41. doi:10.1038/ejhg.2014.119. PMC 4326713. PMID 24939590.

Dopunska literatura[uredi | uredi izvor]

Weiler SR, Taylor SM, Deans RJ, Kan-Mitchell J, Mitchell MS, Trent JM (1994). "Assignment of a human melanoma associated gene MG50 (D2S448) to chromosome 2p25.3 by fluorescence in situ hybridization" (PDF). Genomics. 22 (1): 243–4. doi:10.1006/geno.1994.1374. hdl:2027.42/31471. PMID 7959781.
Mitchell MS, Kan-Mitchell J, Minev B, Edman C, Deans RJ (2000). "A novel melanoma gene (MG50) encoding the interleukin 1 receptor antagonist and six epitopes recognized by human cytolytic T lymphocytes". Cancer Res. 60 (22): 6448–56. PMID 11103812.
Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE, Terada LS (2002). "Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase". J. Biol. Chem. 277 (31): 28051–7. doi:10.1074/jbc.M202665200. PMID 12023963.
Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130508 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020674 - 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.

[pmid10441517-5] Horikoshi N, Cong J, Kley N, Shenk T (Sep 1999). "Isolation of differentially expressed cDNAs from p53-dependent apoptotic cells: activation of the human homologue of the Drosophila peroxidasin gene". Biochem Biophys Res Commun. 261 (3): 864–9. doi:10.1006/bbrc.1999.1123. PMID 10441517.

[pmid9039502-6] Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (maj 1997). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Res. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.

[entrez-7] "Entrez Gene: PXDN peroxidasin homolog (Drosophila)".

[UniProt-8] "UniProt, Q92626" (jezik: engleski). Pristupljeno 14. 11. 2021.

[pmid24906154-9] McCall AS, Cummings CF, Bhave G, Vanacore R, Page-McCaw A, Hudson BG (juni 2014). "Bromine is an essential trace element for assembly of collagen IV scaffolds in tissue development and architecture". Cell. 157 (6): 1380–92. doi:10.1016/j.cell.2014.05.009. PMC 4144415. PMID 24906154.

[10] Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A (2014). "Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis". European Journal of Human Genetics. 23 (3): 337–41. doi:10.1038/ejhg.2014.119. PMC 4326713. PMID 24939590.

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