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MGP001791

UniProt Annotations

Entry Information
Gene Namelaminin, alpha 4
Protein EntryLAMA4_HUMAN
UniProt IDQ16363
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16363-1; Sequence=Displayed; Name=2; IsoId=Q16363-2; Sequence=VSP_017542; Name=3; IsoId=Q16363-3; Sequence=VSP_038853, VSP_038854;
CautionGene LAMA4 was formerly called LAMA3. {ECO:0000305}.
DiseaseCardiomyopathy, 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:0000269|PubMed:17646580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainDomain G is globular.
DomainThe alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
FunctionBinding 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.
InteractionP04637:TP53; NbExp=2; IntAct=EBI-711505, EBI-366083;
Sequence CautionSequence=BAE06109.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityContains 4 laminin EGF-like domains. {ECO:0000255|PROSITE-ProRule:PRU00460}.
SimilarityContains 5 laminin G-like domains. {ECO:0000255|PROSITE-ProRule:PRU00122}.
Subcellular LocationSecreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
SubunitLaminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-4 is a subunit of laminin-8 (laminin-411), laminin-9 (laminin-421) and laminin-14 (laminin-423).
Tissue SpecificityIn 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.
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