COL11A1

COL11A1
Identifikatori
Aliasi	COL11A1
Vanjski ID-jevi	OMIM: 120280 MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	103,108,872 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	114,014,367 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• protein-macromolecule adaptor activity; • vezivanje iona metala; • extracellular matrix binding; • extracellular matrix structural constituent; • heparin binding; • heparan sulfate binding; • extracellular matrix structural constituent conferring tensile strength;
Ćelijska komponenta	• collagen; • endoplasmic reticulum lumen; • collagen type XI trimer; • GO:0005578 Vanćelijski matriks; • extracellular region; • collagen-containing extracellular matrix; • Vanćelijsko;
Biološki proces	• embryonic skeletal system morphogenesis; • endodermal cell differentiation; • ossification; • tendon development; • skeletal system morphogenesis; • chondrocyte development; • heart morphogenesis; • sluh; • detection of mechanical stimulus involved in sensory perception of sound; • ventricular cardiac muscle tissue morphogenesis; • cartilage development; • proteoglycan metabolic process; • inner ear morphogenesis; • cartilage condensation; • Vid; • extracellular matrix organization; • collagen fibril organization;
	Izvori:Amigo / QuickGO
Ortolozi
	1301
	12814
	ENSG00000060718
	ENSMUSG00000027966
	P12107
	Q61245
	NM_001190709; NM_001854; NM_080629; NM_080630
	NM_007729
	NP_001177638; NP_001845; NP_542196; NP_542197
	NP_031755
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kolagenski alfa-1(XI) lanac jest protein koji je kod ljudi kodiran genom COL11A1 sa hromosoma 1.^[5]^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 1.806 aminokiselina, a molekulska težina 181.065 Da.^[7]

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
MEPWSSRWKT	KRWLWDFTVT	TLALTFLFQA	REVRGAAPVD	VLKALDFHNS
PEGISKTTGF	CTNRKNSKGS	DTAYRVSKQA	QLSAPTKQLF	PGGTFPEDFS
ILFTVKPKKG	IQSFLLSIYN	EHGIQQIGVE	VGRSPVFLFE	DHTGKPAPED
YPLFRTVNIA	DGKWHRVAIS	VEKKTVTMIV	DCKKKTTKPL	DRSERAIVDT
NGITVFGTRI	LDEEVFEGDI	QQFLITGDPK	AAYDYCEHYS	PDCDSSAPKA
AQAQEPQIDE	YAPEDIIEYD	YEYGEAEYKE	AESVTEGPTV	TEETIAQTEA
NIVDDFQEYN	YGTMESYQTE	APRHVSGTNE	PNPVEEIFTE	EYLTGEDYDS
QRKNSEDTLY	ENKEIDGRDS	DLLVDGDLGE	YDFYEYKEYE	DKPTSPPNEE
FGPGVPAETD	ITETSINGHG	AYGEKGQKGE	PAVVEPGMLV	EGPPGPAGPA
GIMGPPGLQG	PTGPPGDPGD	RGPPGRPGLP	GADGLPGPPG	TMLMLPFRYG
GDGSKGPTIS	AQEAQAQAIL	QQARIALRGP	PGPMGLTGRP	GPVGGPGSSG
AKGESGDPGP	QGPRGVQGPP	GPTGKPGKRG	RPGADGGRGM	PGEPGAKGDR
GFDGLPGLPG	DKGHRGERGP	QGPPGPPGDD	GMRGEDGEIG	PRGLPGEAGP
RGLLGPRGTP	GAPGQPGMAG	VDGPPGPKGN	MGPQGEPGPP	GQQGNPGPQG
LPGPQGPIGP	PGEKGPQGKP	GLAGLPGADG	PPGHPGKEGQ	SGEKGALGPP
GPQGPIGYPG	PRGVKGADGV	RGLKGSKGEK	GEDGFPGFKG	DMGLKGDRGE
VGQIGPRGED	GPEGPKGRAG	PTGDPGPSGQ	AGEKGKLGVP	GLPGYPGRQG
PKGSTGFPGF	PGANGEKGAR	GVAGKPGPRG	QRGPTGPRGS	RGARGPTGKP
GPKGTSGGDG	PPGPPGERGP	QGPQGPVGFP	GPKGPPGPPG	KDGLPGHPGQ
RGETGFQGKT	GPPGPGGVVG	PQGPTGETGP	IGERGHPGPP	GPPGEQGLPG
AAGKEGAKGD	PGPQGISGKD	GPAGLRGFPG	ERGLPGAQGA	PGLKGGEGPQ
GPPGPVGSPG	ERGSAGTAGP	IGLPGRPGPQ	GPPGPAGEKG	APGEKGPQGP
AGRDGVQGPV	GLPGPAGPAG	SPGEDGDKGE	IGEPGQKGSK	GDKGENGPPG
PPGLQGPVGA	PGIAGGDGEP	GPRGQQGMFG	QKGDEGARGF	PGPPGPIGLQ
GLPGPPGEKG	ENGDVGPMGP	PGPPGPRGPQ	GPNGADGPQG	PPGSVGSVGG
VGEKGEPGEA	GNPGPPGEAG	VGGPKGERGE	KGEAGPPGAA	GPPGAKGPPG
DDGPKGNPGP	VGFPGDPGPP	GEPGPAGQDG	VGGDKGEDGD	PGQPGPPGPS
GEAGPPGPPG	KRGPPGAAGA	EGRQGEKGAK	GEAGAEGPPG	KTGPVGPQGP
AGKPGPEGLR	GIPGPVGEQG	LPGAAGQDGP	PGPMGPPGLP	GLKGDPGSKG
EKGHPGLIGL	IGPPGEQGEK	GDRGLPGTQG	SPGAKGDGGI	PGPAGPLGPP
GPPGLPGPQG	PKGNKGSTGP	AGQKGDSGLP	GPPGSPGPPG	EVIQPLPILS
SKKTRRHTEG	MQADADDNIL	DYSDGMEEIF	GSLNSLKQDI	EHMKFPMGTQ
TNPARTCKDL	QLSHPDFPDG	EYWIDPNQGC	SGDSFKVYCN	FTSGGETCIY
PDKKSEGVRI	SSWPKEKPGS	WFSEFKRGKL	LSYLDVEGNS	INMVQMTFLK
LLTASARQNF	TYHCHQSAAW	YDVSSGSYDK	ALRFLGSNDE	EMSYDNNPFI
KTLYDGCASR	KGYEKTVIEI	NTPKIDQVPI	VDVMINDFGD	QNQKFGFEVG
PVCFLG

Funkcija

Gen COL11A1 kodira jedan od dva kolagenska alfa lanca tipa XI, manji vlaknasti kolagen. Kolagen tipa XI je heterotrimer, ali treći alfa lanac je posttranslacijski modifikovani alfa 1 lanac tipa II. Za ovaj gen su identificirane tri varijante transkripta koje kodiraju različite izoforme.^[6]

Klinički značaj

Mutacije u ovom genu povezane su sa tipom II Sticklerog sindroma i Marshallovim sindromom.^[6]

Sticklerov sindrom, tip II je autosomno dominantno stanje uzrokovano mutacijom gena COL11A1. Karakteristike Sticklerovog sindroma tipa II uključuju: senzornervni gubitak sluha, posebne crte lica (ravni profil lica, anvertirane nozdrve, mikrognatija), rascjep nepca, smetnje vida (anomalija staklastog tijela tipa 2, miopija s početkom u djetinjstvu, glaukom, katarakti i ablacija mrežnjačine fisije), displazija i artropatija.

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000060718 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027966 - 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.
^ Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue". J Biol Chem. 263 (32): 17159–66. doi:10.1016/S0021-9258(18)37512-4. PMID 3182841.
^ ^a ^b ^c "Entrez Gene: COL11A1 collagen, type XI, alpha 1".
^ "UniProt, P12107" (jezik: engleski). Pristupljeno 23. 11. 2021.

Dopunska literatura

Yoshioka H, Ramirez F (1990). "Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines". J. Biol. Chem. 265 (11): 6423–6. doi:10.1016/S0021-9258(19)39343-3. PMID 1690726.
Hanson IM, Gorman P, Lui VC, et al. (1990). "The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6". Genomics. 5 (4): 925–31. doi:10.1016/0888-7543(89)90135-3. PMID 2591970.
Henry I, Bernheim A, Bernard M, et al. (1989). "Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1". Genomics. 3 (1): 87–90. doi:10.1016/0888-7543(88)90165-6. PMID 3220479.
Keene DR, Oxford JT, Morris NP (1995). "Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils". J. Histochem. Cytochem. 43 (10): 967–79. doi:10.1177/43.10.7560887. PMID 7560887.
Zhidkova NI, Justice SK, Mayne R (1995). "Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains". J. Biol. Chem. 270 (16): 9486–93. doi:10.1074/jbc.270.16.9486. PMID 7721876.
Yoshioka H, Greenwel P, Inoguchi K, et al. (1995). "Structural and functional analysis of the promoter of the human alpha 1(XI) collagen gene". J. Biol. Chem. 270 (1): 418–24. doi:10.1074/jbc.270.1.418. PMID 7814404.
Dharmavaram RM, Baldwin CT, Reginato AM, Jimenez SA (1993). "Amplification of cDNAs for human cartilage-specific types II, IX and XI collagens from chondrocytes and Epstein-Barr virus-transformed lymphocytes". Matrix. 13 (2): 125–33. doi:10.1016/s0934-8832(11)80071-5. PMID 8388073.
Richards AJ, Yates JR, Williams R, et al. (1997). "A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen". Hum. Mol. Genet. 5 (9): 1339–43. doi:10.1093/hmg/5.9.1339. PMID 8872475.
Shrivastava A, Radziejewski C, Campbell E, et al. (1998). "An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors". Mol. Cell. 1 (1): 25–34. doi:10.1016/S1097-2765(00)80004-0. PMID 9659900.
Annunen S, Körkkö J, Czarny M, et al. (2000). "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes". Am. J. Hum. Genet. 65 (4): 974–83. doi:10.1086/302585. PMC 1288268. PMID 10486316.
Fischer H, Salahshor S, Stenling R, et al. (2002). "COL11A1 in FAP polyps and in sporadic colorectal tumors". BMC Cancer. 1: 17. doi:10.1186/1471-2407-1-17. PMC 59693. PMID 11707154.
Jun AS, Liu SH, Koo EH, et al. (2001). "Microarray analysis of gene expression in human donor corneas". Arch. Ophthalmol. 119 (11): 1629–34. doi:10.1001/archopht.119.11.1629. PMID 11709013.
Urabe K, Jingushi S, Ikenoue T, et al. (2002). "Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo". J. Orthop. Res. 19 (6): 1013–20. doi:10.1016/S0736-0266(01)00043-2. PMID 11780999.
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.
Melkoniemi M, Koillinen H, Männikkö M, et al. (2003). "Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia". Eur. J. Hum. Genet. 11 (3): 265–70. doi:10.1038/sj.ejhg.5200950. PMID 12673280.
Matsuo N, Yu-Hua W, Sumiyoshi H, et al. (2003). "The transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter activity in the human alpha 1(XI) collagen gene (COL11A1)". J. Biol. Chem. 278 (35): 32763–70. doi:10.1074/jbc.M305599200. PMID 12805369.
Poulson AV, Hooymans JM, Richards AJ, et al. (2004). "Clinical features of type 2 Stickler syndrome". J. Med. Genet. 41 (8): e107. doi:10.1136/jmg.2004.018382. PMC 1735871. PMID 15286167.
Kimura K, Wakamatsu A, Suzuki Y, et al. (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.
Majava M, Hoornaert KP, Bartholdi D, et al. (2007). "A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies". Am. J. Med. Genet. A. 143 (3): 258–64. doi:10.1002/ajmg.a.31586. PMID 17236192. S2CID 43244117.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000060718 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027966 - 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.

[pmid3182841-5] Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue". J Biol Chem. 263 (32): 17159–66. doi:10.1016/S0021-9258(18)37512-4. PMID 3182841.

[entrez-6] "Entrez Gene: COL11A1 collagen, type XI, alpha 1".

[UniProt-7] "UniProt, P12107" (jezik: engleski). Pristupljeno 23. 11. 2021.

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