KERA (gen)

KERA (gen)
Identifikatori
Aliasi	KERA
Vanjski ID-jevi	OMIM: 603288 MGI: 1202398 HomoloGene: 5106 GeneCards: KERA
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	91,058,024 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	97,449,554 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• molekularna funkcija;
Ćelijska komponenta	• Golgi lumen; • extracellular region; • lysosomal lumen; • Vanćelijsko; • GO:0005578 Vanćelijski matriks;
Biološki proces	• cornea development in camera-type eye; • keratan sulfate biosynthetic process; • keratan sulfate catabolic process; • axonogenesis; • response to stimulus; • Vid;
	Izvori:Amigo / QuickGO
Ortolozi
	11081
	16545
	ENSG00000139330
	ENSMUSG00000019932
	O60938
	O35367
	NM_007035
	NM_008438
	NP_008966
	NP_032464
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Keratokan (KTN), znan i kao keratan-sulfat proteoglikanski keratokan, je protein koji je kod ljudi kodiran genom KERA.^[5]^[6]^[7]

Keratan-sulfatni proteoglikani (KSPGs) su članovi male porodice proteoglikana bogatih leucinom (SLRP). KSPG-ovi, posebno keratokan, lumikan i mimekan, važni su za transparentnost rožnnjače.^[7]

Mutacije ovog ana uzrok su nasljednog poremećaja zvanog cornea plana 2.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 352 aminokiseline, a molekulska težina 40.509 Da.^[8]

10	20	30	40	50
MAGTICFIMW	VLFITDTVWS	RSVRQVYEVH	DSDDWTIHDF	ECPMECFCPP
SFPTALYCEN	RGLKEIPAIP	SRIWYLYLQN	NLIETIPEKP	FENATQLRWI
NLNKNKITNY	GIEKGALSQL	KKLLFLFLED	NELEEVPSPL	PRSLEQLQLA
RNKVSRIPQG	TFSNLENLTL	LDLQNNKLVD	NAFQRDTFKG	LKNLMQLNMA
KNALRNMPPR	LPANTMQLFL	DNNSIEGIPE	NYFNVIPKVA	FLRLNHNKLS
DEGLPSRGFD	VSSILDLQLS	HNQLTKVPRI	SAHLQHLHLD	HNKIKSVNVS
VICPSPSMLP	AERDSFSYGP	HLRYLRLDGN	EIKPPIPMAL	MTCFRLLQAV
II

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

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139330 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019932 - 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.
^ Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW (Jan 2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq. 10 (1): 67–74. doi:10.3109/10425179909033939. PMID 10565548.
^ Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A (Jun 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664. S2CID 8837115.
^ ^a ^b "Entrez Gene: KERA keratocan".
^ "UniProt, O60938". Pristupljeno 11. 8. 2021.

Dopunska literatura

Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & Histochemistry. 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
Tahvanainen E, Forsius H, Karila E, et al. (1995). "Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis". Genomics. 26 (2): 290–3. doi:10.1016/0888-7543(95)80213-6. PMID 7601455.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW (2000). "Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization". Cytogenet. Cell Genet. 88 (3–4): 244–5. doi:10.1159/000015528. PMID 10828599. S2CID 31707663.
Tasheva ES, Conrad AH, Conrad GW (2000). "Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter". Biochim. Biophys. Acta. 1492 (2–3): 452–9. doi:10.1016/s0167-4781(00)00129-9. PMID 10899581.
Wentz-Hunter K, Cheng EL, Ueda J, et al. (2002). "Keratocan expression is increased in the stroma of keratoconus corneas". Mol. Med. 7 (7): 470–7. doi:10.1007/BF03401852. PMC 1950054. PMID 11683372.
Lehmann OJ, El-ashry MF, Ebenezer ND, et al. (2002). "A novel keratocan mutation causing autosomal recessive cornea plana". Invest. Ophthalmol. Vis. Sci. 42 (13): 3118–22. PMID 11726611.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Khan A, Al-Saif A, Kambouris M (2004). "A novel KERA mutation associated with autosomal recessive cornea plana". Ophthalmic Genet. 25 (2): 147–52. doi:10.1080/13816810490514397. PMID 15370545. S2CID 44275816.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ebenezer ND, Patel CB, Hariprasad SM, et al. (2005). "Clinical and molecular characterization of a family with autosomal recessive cornea plana". Arch. Ophthalmol. 123 (9): 1248–53. doi:10.1001/archopht.123.9.1248. PMID 16157807.
Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
Szabó V, Balogh K, Süveges I, et al. (2006). "The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy". Mol. Vis. 12: 597–605. PMID 16760896.
Khan AO, Aldahmesh M, Meyer B (2006). "Recessive cornea plana in the Kingdom of Saudi Arabia". Ophthalmology. 113 (10): 1773–8. doi:10.1016/j.ophtha.2006.04.026. PMID 17011957.
Aldave AJ, Sonmez B, Bourla N, et al. (2007). "Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2". Ophthalmic Genet. 28 (2): 57–67. doi:10.1080/13816810701351321. PMID 17558846. S2CID 23491990.
Liskova P, Hysi PG, Williams D, et al. (2007). "Study of p.N247S KERA mutation in a British family with cornea plana". Mol. Vis. 13: 1339–47. PMID 17679937.

Vanjski linkovi

N-vezana proteinska glikozilacija (N-glikozilacija N glikana) na Asn ostatku (Asn-x-Ser/Thr motivi) u glikoproteinima

Glikoproteini su složene bjelančevine koje, uz proteinsku komponentu, sadrže i oligosaharidne lance (glikane). Šećerna komponenta se kovalentno veže za bočne polipeptidne lance. Ta veza se ostvaruje tokom kotranslacijskih ili posttranslacijskih modifikacija. Ovaj proces se označava terminom glikozilacija, kroz koju često prolaze izlučevinski ekstracelularni proteini. Vanjski segmenti proteina čiji su segmenti u ekstracelularnom prostoru su također glikozirani.

N-glikolizacija i O-glikolizacija

Postoje dva tipa glikolizacije:

U N-glizaciji, dodavanje šećera se može desiti na amidnom azotu bočnog lanca asparagina.
U O-glikolizaciji, dodavanje šećera se dešava na hidroksil kisiku na bočnom lancu hidroksilizina, hidroksiprolina, serina ili treonina.

Monosaharidi

Osam uobičajenih šećera u glikoproteinima

Monosaharidi koji se obično nalaze u eukariotskim glikoproteinima:^[1]

Glavni šećeri u glikoproteinima čovjeka^[2]
Šećer	Tip	Skraćenica
β-D-Glukoza	Heksoza	Glc
β-D-Galaktoza	Heksoza	Gal
β-D-Manoza	Heksoza	Man
α-L-Fukoza	Deoksiheksoza	Fuc
N-Acetilgalaktozamin	Aminoheksoza	GalNAc
N-Acetilglukozamin	Aminoheksoza	GlcNAc
N-Acetilneuraminska kiselina	Aminononulosonska kiselina (Sijalinska kiselina)	NeuNAc
Ksiloza	Pentoza	Xyl

Šećerna grupa ili grupe pomažu savijanje ili održavanje stabilnosti proteina.

Glikoproteini su široko rasprostranjeni u žjezdanim tkivima životinja koja sintetiziraju sekrete i ekskrete.^[3] Osobito značajne integracijske membranski komponente, koje učestvuju u međućelijskim interakcijama. Formiraju se i u citosolu, ali su njihove funkcije i način formiraja, kao i moguće modifikacije manje poznati. Komponente su mnogih tkivnih antigen]a ((krvnih grupa, npr.)

Reference

^ Murray R. K., Granner D. K., Rodwell V. W. (2006): Harper's Illustrated Biochemistry 27th Ed. McGraw–Hill, New York.
^ Glycan classification Arhivirano 27. 10. 2012. na Wayback Machine SIGMA
^ Sofradžija A., Šoljan D., Hadžiselimović R. (1996): Biologija 1, Svjetlost, Sarajevo, ISBN 9958-10-686-8.

Također pogledajte

Šablon:Očni proteini

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139330 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000019932 - 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.

[pmid10565548-5] Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW (Jan 2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq. 10 (1): 67–74. doi:10.3109/10425179909033939. PMID 10565548.

[pmid10802664-6] Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A (Jun 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat Genet. 25 (1): 91–5. doi:10.1038/75664. PMID 10802664. S2CID 8837115.

[entrez-7] "Entrez Gene: KERA keratocan".

[UniProt-8] "UniProt, O60938". Pristupljeno 11. 8. 2021.

[Murray-9] Murray R. K., Granner D. K., Rodwell V. W. (2006): Harper's Illustrated Biochemistry 27th Ed. McGraw–Hill, New York.

[10] Glycan classification Arhivirano 27. 10. 2012. na Wayback Machine SIGMA

[11] Sofradžija A., Šoljan D., Hadžiselimović R. (1996): Biologija 1, Svjetlost, Sarajevo, ISBN 9958-10-686-8.

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