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 24-JAN-2024, entry version 137. 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}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 128. DR IntAct; Q96S06; 1. DR STRING; 9606.ENSP00000262301; -. DR GlyGen; Q96S06; 1 site, 1 O-linked glycan (1 site). 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; 9606-ENSP00000262301; -. DR PeptideAtlas; Q96S06; -. DR ProteomicsDB; 3625; -. DR ProteomicsDB; 78050; -. [Q96S06-1] DR Pumba; Q96S06; -. DR Antibodypedia; 5146; 60 antibodies from 17 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 AGR; HGNC:14154; -. 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; 180704at2759; -. 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 1142 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 190 other cell types or tissues. DR ExpressionAtlas; Q96S06; baseline and differential. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central. 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; LIPASE MATURATION FACTOR; 1. DR PANTHER; PTHR14463:SF10; LIPASE MATURATION FACTOR 1; 1. DR Pfam; PF06762; LMF1; 2. DR Genevisible; Q96S06; HS. 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 //