InnateDB Protein
|
IDBP-386260.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
LAMA4
|
Protein Name
|
laminin, alpha 4
|
Synonyms
|
CMD1JJ; LAMA3; LAMA4*-1;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000398226
|
InnateDB Gene
|
IDBG-95551 (LAMA4)
|
Protein Structure
|
|
Function |
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
|
Subcellular Localization |
Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
|
Disease Associations |
Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:17646580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
In adult, strong expression in heart, lung, ovary small and large intestines, placenta, liver; weak or no expression in skeletal muscle, kidney, pancreas, testis, prostate, brain. High expression in fetal lung and kidney. Expression in fetal and newborn tissues is observed in certain mesenchymal cells in tissues such as smooth muscle and dermis.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
20
[view]
|
Protein-Protein |
17
[view]
|
Protein-DNA |
2
[view]
|
Protein-RNA |
0
|
DNA-DNA |
1
[view]
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0005102
|
receptor binding
|
GO:0005201
|
extracellular matrix structural constituent
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q16363
|
PhosphoSite |
PhosphoSite-Q16363
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
3910
|
UniGene |
Hs.654572
|
RefSeq |
NP_001098679
|
HUGO |
HGNC:6484
|
OMIM |
600133
|
CCDS |
CCDS43492
|
HPRD |
02532
|
IMGT |
|
EMBL |
AB210027
AL590106
BC004241
BT006690
S78569
X70904
X76939
X91171
Y14240
Z99289
|
GenPept |
AAB34635
AAH04241
AAP35336
BAE06109
CAA50261
CAA54258
CAA62596
CAA74636
CAI12948
CAI12949
CAI12950
CAI42325
|
|
|