Homo sapiens Protein: LMF1
Summary
InnateDB Protein IDBP-8417.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMF1
Protein Name lipase maturation factor 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000262301
InnateDB Gene IDBG-8415 (LMF1)
Protein Structure
UniProt Annotation
Function Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity). {ECO:0000250}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:19783858}; Multi-pass membrane protein {ECO:0000269PubMed:19783858}.
Disease Associations Combined lipase deficiency (CLD) [MIM:246650]: Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). {ECO:0000269PubMed:17994020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0009306 protein secretion
GO:0033578 protein glycosylation in Golgi
GO:0034382 chylomicron remnant clearance
GO:0051006 positive regulation of lipoprotein lipase activity
GO:0051604 protein maturation
GO:0090181 regulation of cholesterol metabolic process
GO:0090207 regulation of triglyceride metabolic process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR009613 Lipase maturation factor
PFAM PF06762
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96S06
PhosphoSite PhosphoSite-
TrEMBL H3BVI4
UniProt Splice Variant
Entrez Gene 64788
UniGene
RefSeq NP_073610
HUGO HGNC:14154
OMIM 611761
CCDS CCDS45373
HPRD 07789
IMGT
EMBL AB075873 AC009041 AE006465 AK022743 AK025955 AK093050 AL008727 AL031008 AL031716 BC010738 CH471112 Z93041
GenPept AAH10738 AAK61259 BAB14218 BAB15295 BAD38655 BAG52642 EAW85697 EAW85700