Homo sapiens (human): 64788
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Entry
64788 CDS
T01001
Symbol
LMF1, C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A
Name
(RefSeq) lipase maturation factor 1 isoform 1
KO
K23555
lipase maturation factor 1
Organism
hsa
Homo sapiens (human)
Disease
H01101
Combined lipase deficiency
H01784
Primary hyperchylomicronemia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
64788 (LMF1)
Membrane trafficking [BR:
hsa04131
]
Endoplasmic reticulum (ER) - Golgi transport
Others
Others
64788 (LMF1)
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Paralog
GFIT
Motif
Pfam:
LMF1
LMF1_C
DUF2680
Motif
Other DBs
NCBI-GeneID:
64788
NCBI-ProteinID:
NP_073610
OMIM:
611761
HGNC:
14154
Ensembl:
ENSP00000262301.12
UniProt:
Q96S06
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Position
16:complement(853634..981613)
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AA seq
567 aa
AA seq
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MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKAL
AFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRTSWEVFSYMPTILWLMDWS
DMNSNLDLLALLGLGISSFVLITGCANMLLMAALWGLYMSLVNVGHVWYSFGWESQLLET
GFLGIFLCPLWTLSRLPQHTPTSRIVLWGFRWLIFRIMLGAGLIKIRGDRCWRDLTCMDF
HYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQA
VLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDIRGARPEPRFG
SVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVI
LQGTASSNASAPDAMWEDYEFKCKPGDPSRRPCLISPYHYRLDWLMWFAAFQTYEHNDWI
IHLAGKLLASDAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRI
GAYFPPLSLEELRPYFRDRGWPLPGPL
NT seq
1704 nt
NT seq
+upstream
nt +downstream
nt
atgcgccctgacagcccaacaatggcggcgcccgcggagtcgctgaggaggcggaagact
gggtactcggatccggagcctgagtcgccgcccgcgccggggcgtggccccgcaggctct
ccggcccatctccacacgggcaccttctggctgacccggatcgtgctcctgaaggcccta
gccttcgtgtacttcgtggcattcctggtggctttccatcagaacaagcagctcatcggt
gacagggggctgcttccctgcagagtgttcctgaagaacttccagcagtacttccaggac
aggacgagctgggaagtcttcagctacatgcccaccatcctctggctgatggactggtca
gacatgaactccaacctggacttgctggctcttctcggactgggcatctcgtctttcgta
ctgatcacgggctgcgccaacatgcttctcatggctgccctgtggggcctctacatgtcc
ctggttaatgtgggccatgtctggtactctttcggatgggagtcccagcttctggagacg
gggttcctggggatcttcctgtgccctctgtggacgctgtcaaggctgccccagcatacc
cccacatcccggattgtcctgtggggcttccggtggctgatcttcaggatcatgcttgga
gcaggcctgatcaagatccggggggaccggtgctggcgagacctcacctgcatggacttc
cactatgagacccagccgatgcccaatcctgtggcgtactacctgcaccactcaccctgg
tggttccatcgcttcgagacgctcagcaaccacttcatcgagctcctggtgcccttcttc
ctcttcctcggccggcgggcgtgcatcatccacggggtgctgcagatcctgttccaggcc
gtcctcatcgtcagcgggaacctcagcttcctgaactggctgactatggtgcccagcctg
gcctgctttgatgacgccaccctgggattcttgttcccctctgggccaggcagcctgaag
gaccgagttctgcagatgcagagggacatccgaggggcccggcccgagcccagattcggc
tccgtggtgcggcgtgcagccaacgtctcgctgggcgtcctgctggcctggctcagcgtg
cccgtggtcctcaacttgctgagctccaggcaggtcatgaacacccacttcaactctctt
cacatcgtcaacacttacggggccttcggaagcatcaccaaggagcgggcggaggtgatc
ctgcagggcacagccagctccaacgccagcgcccccgatgccatgtgggaggactacgag
ttcaagtgcaagccaggtgaccccagcagacggccctgcctcatctccccgtaccactac
cgcctggactggctgatgtggttcgcggccttccagacctacgagcacaacgactggatc
atccacctggctggcaagctcctggccagcgacgccgaggccttgtccctgctggcacac
aaccccttcgcgggcaggcccccgcccaggtgggtccgaggagagcactacaggtacaag
ttcagccgtcctgggggcaggcacgccgccgagggcaagtggtgggtgcggaagaggatc
ggagcctacttccctccgctcagcctggaggagctgaggccctacttcagggaccgtggg
tggcctctgcccgggcccctctag
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