Lmf1
entrez
76483
canonical
uniprot
Q3U3R4
canonical
ensembl
ENSMUSG00000002279
resolver
ensp
ENSMUSP00000112340
resolver
genesymbol
Lmf1
resolver
genesymbol_syn
Tmem112
resolver
uniprot
Q3TDV1
resolver
uniprot
Q8BM33
resolver
uniprot
Q8BY75
resolver
uniprot
Q8VDX3
resolver
uniprot
Q9CWX8
resolver
uniprot_entry
LMF1_MOUSE
resolver
uniprot_sec
Q3TDV1
resolver
uniprot_sec
Q8BM33
resolver
uniprot_sec
Q8BY75
resolver
uniprot_sec
Q8VDX3
resolver
uniprot_sec
Q9CWX8
resolver
amino_acid_sequence
MRPDSLVMAAPEGSLRKRKVGGAEHSPASQPSLARDPADSPARLHTGTFWLTRIVLLRALAFIYFVAFLVAFNQNKALIGDRGLLPCKLYLKNVQEYFQGSTGWAAWTYAPTIMWLLDWSDMNFNLDLIALLGLGISSFVLVTGCANMILMTALWALYMSLVNVGQIWYSFGWESQLLETGFLGIFLSPLWTLSRLPKNTPTSQIVLWGFRWLIFRIMLGAGLIKVRGDKCWLDLTCMDFHYETQPVPNPIAYYLHRSPWWFHRFETLSNHFVELLVPFFLFLGRRMRILHGVLQILFQVILIISGNLSFLNWLTIVPSLACFDDAALGFLFPSGPQGLKKQVLEIQREDTQRVQPKPRDRGCLVRQVVNISLGILVAWLSVPVVINLLSSRQIMNTSFNPLRIVNTYGAFGSVTKERTEVILQGTVSPNASAPDAVWEDYEFKCKPGDPWRQPCLISPYHYRLDWLMWFAAFQTYEQNEWILHLAGKLLAGDSEALALLAVNPFEGRTPPRWIRGEHYRYKFSLPGGQHATQGKWWIRKRIGPYFPPLRLEDLKEYFKTREWPLPEPPSRHTR
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Lmf1 are the cause of combined lipase deficiency (cld). Cld is characterized by severe hypertriglyceridemia with accumulation of chylomicrons that gradually pack the lumina of capillaries and sinusoids. Severe hypertriglyceridemia causes an increase in blood viscosity, ischemia, and cyanosis, and the inability of tissues to access circulating triglycerides results in starvation, poor thermoregulation, and death 2 to 3 days after birth. The disorder is caused by a decrease in the activity of lipoprotein lipase (Lpl) and the related hepatic lipase (Lipc), caused by impaired maturation of nascent Lpl and hepatic lipase polypeptides in the endoplasmic reticulum.
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:Q96S06, ECO:0000269|PubMed:17994020}.
uniprot
proteins
mass_dalton
65878
uniprot
proteins
protein_family
Lipase maturation factor family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17994020
uniprot
proteins
pubmed
19783858
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
25066055
uniprot
proteins
pubmed
31399538
uniprot
proteins
sequence_length
574
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17994020}; Multi-pass membrane protein {ECO:0000269|PubMed:17994020}.
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