LMF1_HUMAN
ID LMF1_HUMAN Reviewed; 567 AA.
AC Q96S06; B3KS80; Q68CJ3; Q96FJ4; Q9H6G4; Q9H9K7;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Lipase maturation factor 1;
DE AltName: Full=Transmembrane protein 112;
GN Name=LMF1; Synonyms=C16orf26, TMEM112; ORFNames=HMFN1876, JFP11;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney epithelium, Teratocarcinoma, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 5-567 (ISOFORM 1).
RC TISSUE=Hepatoblastoma;
RX PubMed=15221005; DOI=10.1038/sj.onc.1207782;
RA Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S.,
RA Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S.,
RA Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.;
RT "Expression profiling and differential screening between hepatoblastomas
RT and the corresponding normal livers: identification of high expression of
RT the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.";
RL Oncogene 23:5901-5911(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 78-567 (ISOFORM 1), AND VARIANT
RP PRO-203.
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP INVOLVEMENT IN CLD.
RX PubMed=17994020; DOI=10.1038/ng.2007.24;
RA Peterfy M., Ben-Zeev O., Mao H.Z., Weissglas-Volkov D., Aouizerat B.E.,
RA Pullinger C.R., Frost P.H., Kane J.P., Malloy M.J., Reue K., Pajukanta P.,
RA Doolittle M.H.;
RT "Mutations in LMF1 cause combined lipase deficiency and severe
RT hypertriglyceridemia.";
RL Nat. Genet. 39:1483-1487(2007).
RN [8]
RP RETRACTED PAPER.
RX PubMed=19783858; DOI=10.1074/jbc.m109.049395;
RA Doolittle M.H., Neher S.B., Ben-Zeev O., Ling-Liao J., Gallagher C.M.,
RA Hosseini M., Yin F., Wong H., Walter P., Peterfy M.;
RT "Lipase maturation factor LMF1, membrane topology and interaction with
RT lipase proteins in the endoplasmic reticulum.";
RL J. Biol. Chem. 284:33623-33633(2009).
RN [9]
RP RETRACTION NOTICE OF PUBMED:19783858.
RX PubMed=31399538; DOI=10.1074/jbc.w119.010212;
RA Doolittle M.H., Neher S.B., Ben-Zeev O., Ling-Liao J., Gallagher C.M.,
RA Hosseini M., Yin F., Wong H., Walter P., Peterfy M.;
RL J. Biol. Chem. 294:12263-12263(2019).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, AND TOPOLOGY.
RX PubMed=24909692; DOI=10.1016/j.bbrc.2014.05.136;
RA Babilonia-Rosa M.A., Neher S.B.;
RT "Purification, cellular levels, and functional domains of lipase maturation
RT factor 1.";
RL Biochem. Biophys. Res. Commun. 450:423-428(2014).
CC -!- FUNCTION: Involved in the maturation of specific proteins in the
CC endoplasmic reticulum. Required for maturation and transport of active
CC lipoprotein lipase (LPL) through the secretory pathway. Each LMF1
CC molecule chaperones 50 or more molecules of LPL.
CC {ECO:0000250|UniProtKB:Q3U3R4, ECO:0000269|PubMed:24909692}.
CC -!- SUBUNIT: Interacts with LPL and SEL1L. {ECO:0000250|UniProtKB:Q3U3R4}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:24909692}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:24909692}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96S06-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96S06-2; Sequence=VSP_057388;
CC -!- DISEASE: Combined lipase deficiency (CLD) [MIM:246650]: Characterized
CC by repeated episodes of pancreatitis, tuberous xanthomas and
CC lipodystrophy and is caused by deficiency of both lipoprotein lipase
CC (LPL) and hepatic triglyceride lipase (HTGL).
CC {ECO:0000269|PubMed:17994020}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the lipase maturation factor family.
CC {ECO:0000305}.
CC -!- CAUTION: Additional evidence for its localization to the endoplasmic
CC reticulum membrane was found. However this paper was retracted due to
CC manipulation of data. {ECO:0000305|PubMed:19783858,
CC ECO:0000305|PubMed:31399538}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15295.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK022743; BAB14218.1; -; mRNA.
DR EMBL; AK025955; BAB15295.1; ALT_INIT; mRNA.
DR EMBL; AK093050; BAG52642.1; -; mRNA.
DR EMBL; AE006465; AAK61259.1; -; Genomic_DNA.
DR EMBL; AC009041; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL008727; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031008; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031716; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456135; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456141; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456144; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z93041; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471112; EAW85700.1; -; Genomic_DNA.
DR EMBL; AB075873; BAD38655.1; -; mRNA.
DR EMBL; BC010738; AAH10738.2; -; mRNA.
DR CCDS; CCDS45373.1; -. [Q96S06-1]
DR RefSeq; NP_073610.2; NM_022773.2. [Q96S06-1]
DR RefSeq; XP_006720991.1; XM_006720928.2.
DR AlphaFoldDB; Q96S06; -.
DR BioGRID; 122298; 125.
DR IntAct; Q96S06; 1.
DR STRING; 9606.ENSP00000262301; -.
DR iPTMnet; Q96S06; -.
DR PhosphoSitePlus; Q96S06; -.
DR BioMuta; LMF1; -.
DR DMDM; 74717262; -.
DR EPD; Q96S06; -.
DR jPOST; Q96S06; -.
DR MassIVE; Q96S06; -.
DR MaxQB; Q96S06; -.
DR PaxDb; Q96S06; -.
DR PeptideAtlas; Q96S06; -.
DR PRIDE; Q96S06; -.
DR ProteomicsDB; 3625; -.
DR ProteomicsDB; 78050; -. [Q96S06-1]
DR Antibodypedia; 5146; 46 antibodies from 16 providers.
DR DNASU; 64788; -.
DR Ensembl; ENST00000262301.16; ENSP00000262301.12; ENSG00000103227.19. [Q96S06-1]
DR Ensembl; ENST00000543238.5; ENSP00000437418.1; ENSG00000103227.19. [Q96S06-2]
DR GeneID; 64788; -.
DR KEGG; hsa:64788; -.
DR MANE-Select; ENST00000262301.16; ENSP00000262301.12; NM_022773.4; NP_073610.2.
DR UCSC; uc010bri.4; human.
DR UCSC; uc059otd.1; human. [Q96S06-1]
DR CTD; 64788; -.
DR DisGeNET; 64788; -.
DR GeneCards; LMF1; -.
DR HGNC; HGNC:14154; LMF1.
DR HPA; ENSG00000103227; Low tissue specificity.
DR MalaCards; LMF1; -.
DR MIM; 246650; phenotype.
DR MIM; 611761; gene.
DR neXtProt; NX_Q96S06; -.
DR OpenTargets; ENSG00000103227; -.
DR Orphanet; 535453; Familial lipase maturation factor 1 deficiency.
DR PharmGKB; PA25540; -.
DR VEuPathDB; HostDB:ENSG00000103227; -.
DR eggNOG; ENOG502QT4H; Eukaryota.
DR GeneTree; ENSGT00530000063702; -.
DR HOGENOM; CLU_020557_2_0_1; -.
DR InParanoid; Q96S06; -.
DR OMA; NFAWLNW; -.
DR OrthoDB; 759759at2759; -.
DR PhylomeDB; Q96S06; -.
DR TreeFam; TF314339; -.
DR PathwayCommons; Q96S06; -.
DR Reactome; R-HSA-8963889; Assembly of active LPL and LIPC lipase complexes.
DR SignaLink; Q96S06; -.
DR BioGRID-ORCS; 64788; 11 hits in 1067 CRISPR screens.
DR ChiTaRS; LMF1; human.
DR GeneWiki; TMEM112; -.
DR GenomeRNAi; 64788; -.
DR Pharos; Q96S06; Tbio.
DR PRO; PR:Q96S06; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q96S06; protein.
DR Bgee; ENSG00000103227; Expressed in right uterine tube and 188 other tissues.
DR ExpressionAtlas; Q96S06; baseline and differential.
DR Genevisible; Q96S06; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0051604; P:protein maturation; IBA:GO_Central.
DR GO; GO:0006641; P:triglyceride metabolic process; IMP:UniProtKB.
DR InterPro; IPR009613; LMF.
DR PANTHER; PTHR14463; PTHR14463; 1.
DR Pfam; PF06762; LMF1; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Chaperone; Endoplasmic reticulum; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..567
FT /note="Lipase maturation factor 1"
FT /id="PRO_0000276739"
FT TOPO_DOM 1..49
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 50..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 73..127
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 128..151
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 152..207
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 208..221
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 222..292
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 293..321
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 322..367
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 368..388
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 389..567
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..237
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057388"
FT VARIANT 164
FT /note="V -> A (in dbSNP:rs35663121)"
FT /id="VAR_053829"
FT VARIANT 203
FT /note="S -> P (in dbSNP:rs11540337)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030487"
FT VARIANT 364
FT /note="R -> Q (in dbSNP:rs35168378)"
FT /id="VAR_053830"
FT VARIANT 562
FT /note="P -> R (in dbSNP:rs4984948)"
FT /id="VAR_030488"
FT CONFLICT 36
FT /note="G -> D (in Ref. 1; BAB15295 and 3; BAD38655)"
FT /evidence="ECO:0000305"
FT CONFLICT 93
FT /note="N -> D (in Ref. 1; BAB14218)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 567 AA; 64873 MW; 6D4C80741D1DD0D5 CRC64;
MRPDSPTMAA PAESLRRRKT GYSDPEPESP PAPGRGPAGS PAHLHTGTFW LTRIVLLKAL
AFVYFVAFLV AFHQNKQLIG DRGLLPCRVF LKNFQQYFQD RTSWEVFSYM PTILWLMDWS
DMNSNLDLLA LLGLGISSFV LITGCANMLL MAALWGLYMS LVNVGHVWYS FGWESQLLET
GFLGIFLCPL WTLSRLPQHT PTSRIVLWGF RWLIFRIMLG AGLIKIRGDR CWRDLTCMDF
HYETQPMPNP VAYYLHHSPW WFHRFETLSN HFIELLVPFF LFLGRRACII HGVLQILFQA
VLIVSGNLSF LNWLTMVPSL ACFDDATLGF LFPSGPGSLK DRVLQMQRDI RGARPEPRFG
SVVRRAANVS LGVLLAWLSV PVVLNLLSSR QVMNTHFNSL HIVNTYGAFG SITKERAEVI
LQGTASSNAS APDAMWEDYE FKCKPGDPSR RPCLISPYHY RLDWLMWFAA FQTYEHNDWI
IHLAGKLLAS DAEALSLLAH NPFAGRPPPR WVRGEHYRYK FSRPGGRHAA EGKWWVRKRI
GAYFPPLSLE ELRPYFRDRG WPLPGPL
