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

COL11A1
Identifikatori
AliasiCOL11A1
Vanjski ID-jeviOMIM: 120280 MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Lokacija gena (čovjek)
Hromosom 1 (čovjek)
Hrom.Hromosom 1 (čovjek)[1]
Hromosom 1 (čovjek)
Genomska lokacija za COL11A1
Genomska lokacija za COL11A1
Bend1p21.1Početak102,876,467 bp[1]
Kraj103,108,872 bp[1]
Lokacija gena (miš)
Hromosom 3 (miš)
Hrom.Hromosom 3 (miš)[2]
Hromosom 3 (miš)
Genomska lokacija za COL11A1
Genomska lokacija za COL11A1
Bend3 F3|3 49.35 cMPočetak113,824,189 bp[2]
Kraj114,014,367 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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
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 MbChr 3: 113.82 – 114.01 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Amiokiselininska sekvenca

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

1020304050
MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNS
PEGISKTTGFCTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFS
ILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFEDHTGKPAPED
YPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDT
NGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKA
AQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDS
QRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEE
FGPGVPAETDITETSINGHGAYGEKGQKGEPAVVEPGMLVEGPPGPAGPA
GIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPGTMLMLPFRYG
GDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSG
AKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGP
RGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQG
LPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPP
GPQGPIGYPGPRGVKGADGVRGLKGSKGEKGEDGFPGFKGDMGLKGDRGE
VGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVPGLPGYPGRQG
PKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQ
RGETGFQGKTGPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPG
AAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQ
GPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGP
AGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSKGDKGENGPPG
PPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGG
VGEKGEPGEAGNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPG
DDGPKGNPGPVGFPGDPGPPGEPGPAGQDGVGGDKGEDGDPGQPGPPGPS
GEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGP
AGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKG
EKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILS
SKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQ
TNPARTCKDLQLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIY
PDKKSEGVRISSWPKEKPGSWFSEFKRGKLLSYLDVEGNSINMVQMTFLK
LLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFI
KTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
PVCFLG

Funkcija

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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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060718 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  6. ^ a b c "Entrez Gene: COL11A1 collagen, type XI, alpha 1".
  7. ^ "UniProt, P12107" (jezik: engleski). Pristupljeno 23. 11. 2021.

Dopunska literatura

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Vanjski linkovi

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