LMF1
entrez
64788
canonical
uniprot
Q96S06
canonical
ensembl
ENSG00000103227
resolver
ensp
ENSP00000262301
resolver
ensp
ENSP00000458135
resolver
ensp
ENSP00000649657
resolver
enst
ENST00000568897
resolver
genesymbol
LMF1
resolver
genesymbol_syn
C16orf26
resolver
genesymbol_syn
TMEM112
resolver
hgnc
HGNC:14154
resolver
uniprot
B3KS80
resolver
uniprot
H3BVI4
resolver
uniprot
Q68CJ3
resolver
uniprot
Q96FJ4
resolver
uniprot
Q9H6G4
resolver
uniprot
Q9H9K7
resolver
uniprot_entry
H3BVI4_HUMAN
resolver
uniprot_entry
LMF1_HUMAN
resolver
uniprot_sec
B3KS80
resolver
uniprot_sec
Q68CJ3
resolver
uniprot_sec
Q96FJ4
resolver
uniprot_sec
Q9H6G4
resolver
uniprot_sec
Q9H9K7
resolver
amino_acid_sequence
MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKALAFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRTSWEVFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFVLITGCANMLLMAALWGLYMSLVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHTPTSRIVLWGFRWLIFRIMLGAGLIKIRGDRCWRDLTCMDFHYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQAVLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDIRGARPEPRFGSVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVILQGTASSNASAPDAMWEDYEFKCKPGDPSRRPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLASDAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRIGAYFPPLSLEELRPYFRDRGWPLPGPL
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17994020}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. Each LMF1 molecule chaperones 50 or more molecules of LPL. {ECO:0000250|UniProtKB:Q3U3R4, ECO:0000269|PubMed:24909692}.
uniprot
proteins
mass_dalton
64873
uniprot
proteins
protein_family
Lipase maturation factor family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15221005
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17994020
uniprot
proteins
pubmed
19783858
uniprot
proteins
pubmed
24909692
uniprot
proteins
pubmed
31399538
uniprot
proteins
sequence_length
567
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24909692}; Multi-pass membrane protein {ECO:0000269|PubMed:24909692}.
uniprot
proteins
transmembrane_region
TRANSMEM 50..72; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 128..151; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 208..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 293..321; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 368..388; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins