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COL11A1 collagen, type XI, alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001190709 Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant E, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_001854 Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_080629 Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. GenEZ ORF Cloning On-demand $2699.00 30
NM_080630 Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant C, mRNA. GenEZ ORF Cloning On-demand $2699.00 30

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Gene Symbol COL11A1
Entrez Gene ID 1301
Full Name collagen, type XI, alpha 1
Synonyms CO11A1, COLL6, STL2
General protein information
Preferred Names
collagen alpha-1(XI) chain
Names
collagen alpha-1(XI) chain
collagen XI, alpha-1 polypeptide
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p21

Summary This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009].
Disorder

MIM: 120280

Stickler syndrome, type II, 604841 (3); Marshall syndrome, 154780

mRNA Protein Product Sequence Price Select
NM_001190709, 299523256 NP_001177638, 299523257 collagen alpha-1(XI) chain isoform E preproprotein ORF Sequence $2500.00
NM_001854, 98985805 NP_001845, 98985806 collagen alpha-1(XI) chain isoform A preproprotein ORF Sequence $2500.00
NM_080629, 98985809 NP_542196, 98985810 collagen alpha-1(XI) chain isoform B preproprotein ORF Sequence $2500.00
NM_080630, 299523252 NP_542197, 299523253 collagen alpha-1(XI) chain isoform C preproprotein ORF Sequence $2500.00
KEGG
hsa04510Focal adhesion
hsa04512ECM-receptor interaction
hsa05146Amoebiasis
hsa04974Protein digestion and absorption
hsa04151PI3K-Akt signaling pathway
hsa04611Platelet activation
Reactome
REACT_118779Extracellular matrix organization
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_150180Assembly of collagen fibrils and other multimeric structures
Homo sapiens (human)COL11A1NP_542196.2
Pan troglodytes (chimpanzee)COL11A1XP_001139974.1
Macaca mulatta (Rhesus monkey)LOC712753XP_002808276.1
Canis lupus familiaris (dog)COL11A1XP_005621909.1
Bos taurus (cattle)COL11A1NP_001159981.1
Mus musculus (house mouse)Col11a1NP_031755.2
Rattus norvegicus (Norway rat)Col11a1NP_037249.1
Gallus gallus (chicken)COL11A1XP_001231624.2
Danio rerio (zebrafish)col11a1aNP_001077313.1
Xenopus (Silurana) tropicalis (western clawed frog)col5a3XP_004913770.1
Process
IDNameEvidence
GO:0001502cartilage condensationIEA
GO:0002063chondrocyte developmentIEA
GO:0006029proteoglycan metabolic processIEA
GO:0007601visual perceptionIMP
GO:0007605sensory perception of soundIMP
GO:0022617extracellular matrix disassemblyTAS
GO:0030198extracellular matrix organizationNAS
GO:0030198extracellular matrix organizationTAS
GO:0030199collagen fibril organizationNAS
GO:0030574collagen catabolic processTAS
GO:0035989tendon developmentIEA
GO:0042472inner ear morphogenesisIEA
GO:0048704embryonic skeletal system morphogenesisIEA
GO:0050910detection of mechanical stimulus involved in sensory perception of soundIMP
GO:0055010ventricular cardiac muscle tissue morphogenesisIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005592collagen type XI trimerIDA
GO:0005592collagen type XI trimerNAS
GO:0005788endoplasmic reticulum lumenTAS
Function
IDNameEvidence
GO:0005201extracellular matrix structural constituentNAS
GO:0030674protein binding, bridgingNAS
GO:0046872metal ion bindingIEA
GO:0050840extracellular matrix bindingNAS
GeneCards COL11A1
UniProt P12107, Q59HB5
Vega OTTHUMG00000010872
MIM 120280
Ensembl ENSG00000060718
HGNC 2186
HPRD 00375

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the COL11A1 gene?

The COL11A1 gene provides instructions for making one component of type XI collagen, called the pro-alpha1(XI) chain. Type XI collagen adds structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type XI collagen is normally found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the clear gel that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus).

The pro-alpha1(XI) chain combines with two other collagen chains (pro-alpha2(XI) and pro-alpha1(II)) to form a procollagen molecule. These triple-stranded, ropelike procollagen molecules are then processed by enzymes in the cell. Once processed, procollagen molecules leave the cell and arrange themselves into long, thin fibrils that link to one another (cross-link) in the spaces around cells. The cross-linkages result in the formation of very strong mature type XI collagen fibers.

Type XI collagen also helps maintain the spacing and diameter of type II collagen fibrils. Type II collagen is an important component of the eye and mature cartilage tissue. The size and arrangement of type II collagen fibrils is essential for the normal structure of these tissues.

Interactant

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