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FLASH GENE
Symbol COL11A1 contributors: mct - updated : 13-03-2007
HGNC name collagen, type XI, alpha 1
HGNC id 2186
Corresponding disease
FCHG fibrochondrogenesis
MRSH Marshall syndrome
STL2 Stickler syndrome 2
Location 1p21.1      Physical location : 103.342.023 - 103.574.052
Synonym name
  • collagen alpha-1
  • XIchain precursor
  • collagen XI, alpha-1 polypeptide
  • Synonym symbol(s) COLL6,CO11A1
    DNA
    TYPE functioning gene
    STRUCTURE 232.03 kb     67 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure the transcription factor CCAAT-binding factor CBF/NF-Y regulates the proximal promoter
    MAPPING cloned Y linked   status provisional
    Physical map
    LOC391059 1 similar to Stromal cell derived factor receptor 2 AGL 1p21 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) SLC35A3 1p21 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 HIAT1 1p21.3 hippocampus abundant transcript 1 DKFZp761A078 1p21.3 hypothetical protein DKFZp761A078 FLJ10287 1pter-q31.3 hypothetical protein FLJ10287 MGC14816 1p21.3 hypothetical protein MGC14816 DBT 1p31 dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) RTCD1 1p21.1 RTC domain containing 1 CDC14A 1p22 CDC14 cell division cycle 14 homolog A (S. cerevisiae) GPR88 1p21.3 G-protein coupled receptor 88 LOC391060 1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) LOC391061 1 similar to large subunit ribosomal protein L36a VCAM1 1p21 vascular cell adhesion molecule 1 EXTL2 1p12-p11 exostoses (multiple)-like 2 SLC30A7 1p21.2 solute carrier family 30 (zinc transporter), member 7 CGI-30 1p21.2 CGI-30 protein FLJ20139 1p21.2 hypothetical protein FLJ20139 EDG1 1p21 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 LOC391062 1 similar to peptidylprolyl isomerase A (cyclophilin A) LOC388654 1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) OLFM3 1p22-p21 olfactomedin 3 HEJ1 1p22 olfactomedin 3 COL11A1 1p21 collagen, type XI, alpha 1 LOC388655 1 LOC388655 FLJ25070 1p21 hypothetical protein FLJ25070 AMY2B 1p21 amylase, alpha 2B; pancreatic AMY2A 1p21 amylase, alpha 2A; pancreatic AMY1A 1p21 amylase, alpha 1A; salivary LOC388656 1 hypothetical gene supported by BC014218 LOC391063 1 similar to Ferritin light chain (Ferritin L subunit) LOC391064 1 hypothetical gene supported by AK001388 LOC126987 1p13.3 similar to tight junction protein 3 (zona occludens 3)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    67 - 7291 181 1806 - -
    alternate exon 6, designated exon 6A
    67 - 7327 - 1818 - -
    alternate exon 6, designated exon 6B
    64 - 6960 - 1690 - -
    does not utilize either alternate exon 6A or 6B
    - - 7191 - 1767 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Hearing/Equilibriumearinner  highly
    Skin/Tegumentskin   highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Connectivecartilagehyaline  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal region with thrombospondin N-terminal forming a globular head
  • triple helix repeat
  • an extended tail at the variable C terminal
  • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • collagen family
  • fibrillar subfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text ocular vitreous body, extracellular matrix
    basic FUNCTION
  • playing an essential role in skeletal morphogenesis
  • maintaining the interfibrillar spacing and fibril diameter of type II collagen
  • regulation of fibrillogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
  • alpha 1 chain XI, heterotrimerizing with alpha 2 XI and alpha 3 XI, a post translationally modified variant of COL2A1
  • s2 constituent of fibril forming
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STL2 , MRSH , FCHG
    Susceptibility to lumbar disc herniation
    Variant & Polymorphism SNP 4603CT had the most significant association with lumbar disc herniation
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS