COL11A1

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

COL11A1
Identifikatori
Aliasi	COL11A1
Vanjski ID-jevi	OMIM: 120280 MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Lokacija gena (čovjek) Hrom. Hromosom 1 (čovjek)[1] Bend 1p21.1 Početak 102,876,467 bp[1] Kraj 103,108,872 bp[1]
Lokacija gena (miš) Hrom. Hromosom 3 (miš)[2] Bend 3 F3|3 49.35 cM Početak 113,824,189 bp[2] Kraj 114,014,367 bp[2]
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
Vrste	Čovjek	Miš
Entrez	1301	12814
Ensembl	ENSG00000060718	ENSMUSG00000027966
UniProt	P12107	Q61245
RefSeq (mRNK)	NM_001190709 NM_001854 NM_080629 NM_080630	NM_007729
RefSeq (bjelančevina)	NP_001177638 NP_001845 NP_542196 NP_542197	NP_031755
Lokacija (UCSC)	Chr 1: 102.88 – 103.11 Mb	Chr 3: 113.82 – 114.01 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

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.