Gene: [11q223/MMP1] matrix metalloproteinase 1; collagenase, interstitial (fibroblast); epidermolysis bullosa, dystrophic (Hallopeau-Siemens, recessive; MIM:226600);
GEN | The gene length is 17 kb. |
MAP | Pendas-1996 isolated a 1.5-Mb YAC clone on 11q22.3 with 7 MMP genes: cen--MMP8--MMP10--MMP1--MMP3--MMP12--MMP7--MMP13--qter." |
FUN | Belongs to metalloproteinases. Catalyzes degradation of extracellular matrix proteins especially collagen type I, II, III. Cleaves preferentially one bond in native collagen. Cleavage of the triple helix of collagen at about three-quarters of the length of the molecule from the N-terminus, at 775-gly-|-ile-776 in the alpha-1(I) chain. Cleaves synthetic substrates and alpha-macroglobulins at bonds where p1' is a hydrophobic residue." |
FAG | [1] Collagenase belongs to the family of
metalloproteinases, which degrade extracellular matrix proteins,
preferentially collagen. This family includes, apart the collagenases,
several isoforms of stromelysin and stromelysin-like proteins; for more
details on this family, see GEM:11q223/MMP3.
[2] On the family of collagen proteins, see FAM:COLL/00.0. [3] A gene for collagenase protein inhibitor has been mapped (GEM:0Xp1123/TIMP1)." |
REF | PND,PAT,MEB
"Anton-Lamprecht I &: Hum Genet, 59, 392-405, 1981a PND,PAT,MEB "Anton-Lamprecht I &: Lancet, 2, 1077-1079, 1981b PND,PAT,MEB "Bauer EA &: J Invest Derm, 87, 597-601, 1986 TER,MEB "Bauer EA &: New Engl J Med, 303, 776-781, 1980 FOG,PAT,MEB "Bauer EA, Eisen AZ: J Exp Med, 148, 1378-1387, 1978 FOG,PAT,MEB "Bauer EA: PNAS, 74, 4646-4650, 1977 FOG,POG "Book JA: J Genet Hum, 1, 24-26, 1952 CLO,COD,SEQ,GEN "Brinckerhoff CE &: J Clin Invest, 79, 542-546, 1987 LOC,CYG,PHE "Church &: Coll Relat Res, 3, 115-124, 1983 FUN,EXP,MEB "Clark, Cawston: Biochem J, 263, 201-206, 1989 REV,PAT,FOG "Davison BCC: J Med Genet, 2, 233-242, 1965 FOG,PAT,MEB "Destro &: Arch Ophthal, 105, 1248-1252, 1987 REV,PAT,FOG "Didolkar &: Cancer, 33, 198-202, 1974 LOC,MOL "Gerhard &: CCG, 46, (HGM9), 619, 1987 PEP,SEQ,EVO "Goldberg GI &: JBC, 261, 6600-6605, 1986 NOM "Nagase H &: Matrix, 1, (Suppl.), 421-424, 1992 MAP "Pendas AM &: Genomics, 37, 266-269, 1996 HIS,PHE,PAT,FOG "Robinson MM: Urol Cutan Rev, 50, 545-561, 1946 FUN,EXP,MEB "Sottile &: J Cell Physiol, 138, N2, 281-290, 1989 LOC,MOL,POL,FAG "Spurr NK &: Genomics, 2, 119-127, 1988 FOG,PAT,MEB "Tidman, Eady: Brit J Derm, 111, 379-387, 1984 |
SWI | SWISSPROT: P03956 |
KEY | derm, exce, pep |
CLA | coding, basic |
LOC | 11 q22.3 |
MIM | MIM: 120353 |
EZN | ENZYME: 3.4.24.7 |
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