MMP9_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
MMP9
, CLG4B
Protein names and data:
MMP9_HUMAN
, Matrix metalloproteinase-9; MMP-9; 3.4.24.35
, 92 kDa gelatinase; 92 kDa type IV collagenase; Gelatinase B; GELB; 67 kDa matrix metalloproteinase-9; 82 kDa matrix metalloproteinase-9; Flags: Precursor
Lenght: 707 a.a.
Mass: 78458 Da
fasta formatted sequence
Function:
May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide.
Catalytic activity:
Cleavage of gelatin types I and V and collagen types IV and V.
Disease:
( OMIM:
120361
603932
613073
)
Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Metaphyseal anadysplasia 2 (MANDP2) [MIM:613073]: A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted, extracellular space, extracellular matrix (Probable).
Tissue specificity:
Produced by normal alveolar macrophages and granulocytes.
Genetic variants
20 - 20
A -> V (in dbSNP:rs1805088). VAR_013780
1805088
38 - 38
N -> S (in dbSNP:rs41427445). VAR_037004
41427445
82 - 82
E -> K (in dbSNP:rs1805089). VAR_013781
1805089
127 - 127
N -> K (in dbSNP:rs3918252). VAR_020054
3918252
239 - 239
R -> H (in dbSNP:rs28763886). VAR_025165
28763886
279 - 279
Q -> R (common polymorphism; may be associated with susceptibility to IDD; dbSNP:rs17576). VAR_013782
17576
571 - 571
F -> V (in dbSNP:rs35691798). VAR_025166
35691798
574 - 574
R -> P (in dbSNP:rs2250889). VAR_024595
2250889
668 - 668
R -> Q (in dbSNP:rs17577). VAR_014742
17577
Database cross-references
UniProt:
P14780
Ensembl:
ENST00000372330
MIM:
120361
MIM:
603932
MIM:
613073
neXtProt:
NX_P14780
Antibodypedia:
P14780
(may not find the protein thus also not any antibody)
Local full text data:
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