InnateDB Protein
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IDBP-8417.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LMF1
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Protein Name
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lipase maturation factor 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000262301
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InnateDB Gene
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IDBG-8415 (LMF1)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:19783858}; Multi-pass membrane protein {ECO:0000269PubMed:19783858}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009613
Lipase maturation factor
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PFAM |
PF06762
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96S06
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PhosphoSite |
PhosphoSite-
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TrEMBL |
H3BVI4
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UniProt Splice Variant |
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Entrez Gene |
64788
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UniGene |
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RefSeq |
NP_073610
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HUGO |
HGNC:14154
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OMIM |
611761
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CCDS |
CCDS45373
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HPRD |
07789
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IMGT |
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EMBL |
AB075873
AC009041
AE006465
AK022743
AK025955
AK093050
AL008727
AL031008
AL031716
BC010738
CH471112
Z93041
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GenPept |
AAH10738
AAK61259
BAB14218
BAB15295
BAD38655
BAG52642
EAW85697
EAW85700
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