LMF2_HUMAN
ID LMF2_HUMAN Reviewed; 707 AA.
AC Q9BU23; A6NEZ0; Q13392; Q6ZNR2; Q8WU74; Q96C62;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Lipase maturation factor 2;
DE AltName: Full=Transmembrane protein 112B;
DE AltName: Full=Transmembrane protein 153;
GN Name=LMF2; Synonyms=TMEM112B, TMEM153;
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] (ISOFORM 1).
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney, and Skin;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 317-707 (ISOFORM 3).
RC TISSUE=Thymus;
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 [5]
RP IDENTIFICATION.
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] LEU-68.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Involved in the maturation of specific proteins in the
CC endoplasmic reticulum. May be required for maturation and transport of
CC active lipoprotein lipase (LPL) through the secretory pathway (By
CC similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BU23; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-10298556, EBI-739580;
CC Q9BU23; Q15323: KRT31; NbExp=3; IntAct=EBI-10298556, EBI-948001;
CC Q9BU23; Q6A162: KRT40; NbExp=3; IntAct=EBI-10298556, EBI-10171697;
CC Q9BU23-2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12132296, EBI-3867333;
CC Q9BU23-2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-12132296, EBI-10171774;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BU23-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BU23-2; Sequence=VSP_032254;
CC Name=3;
CC IsoId=Q9BU23-3; Sequence=VSP_032255;
CC -!- SIMILARITY: Belongs to the lipase maturation factor family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB03346.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAC85437.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
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DR EMBL; CR456605; CAG30491.1; -; mRNA.
DR EMBL; U62317; AAB03346.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC002942; AAH02942.2; -; mRNA.
DR EMBL; BC014652; AAH14652.1; -; mRNA.
DR EMBL; BC021143; AAH21143.1; -; mRNA.
DR EMBL; AK130818; BAC85437.1; ALT_SEQ; mRNA.
DR CCDS; CCDS14093.2; -. [Q9BU23-1]
DR CCDS; CCDS87035.1; -. [Q9BU23-2]
DR RefSeq; NP_149977.2; NM_033200.2. [Q9BU23-1]
DR RefSeq; XP_005262012.1; XM_005261955.3.
DR AlphaFoldDB; Q9BU23; -.
DR SMR; Q9BU23; -.
DR BioGRID; 124811; 114.
DR IntAct; Q9BU23; 26.
DR MINT; Q9BU23; -.
DR STRING; 9606.ENSP00000424381; -.
DR GlyConnect; 1457; 1 N-Linked glycan (1 site).
DR GlyGen; Q9BU23; 2 sites, 4 N-linked glycans (1 site).
DR iPTMnet; Q9BU23; -.
DR PhosphoSitePlus; Q9BU23; -.
DR SwissPalm; Q9BU23; -.
DR BioMuta; LMF2; -.
DR DMDM; 74733167; -.
DR EPD; Q9BU23; -.
DR jPOST; Q9BU23; -.
DR MassIVE; Q9BU23; -.
DR MaxQB; Q9BU23; -.
DR PaxDb; Q9BU23; -.
DR PeptideAtlas; Q9BU23; -.
DR PRIDE; Q9BU23; -.
DR ProteomicsDB; 79046; -. [Q9BU23-1]
DR ProteomicsDB; 79047; -. [Q9BU23-2]
DR ProteomicsDB; 79048; -. [Q9BU23-3]
DR Antibodypedia; 28648; 128 antibodies from 21 providers.
DR DNASU; 91289; -.
DR Ensembl; ENST00000216080.5; ENSP00000216080.5; ENSG00000100258.18. [Q9BU23-2]
DR Ensembl; ENST00000474879.7; ENSP00000424381.1; ENSG00000100258.18. [Q9BU23-1]
DR GeneID; 91289; -.
DR KEGG; hsa:91289; -.
DR MANE-Select; ENST00000474879.7; ENSP00000424381.1; NM_033200.3; NP_149977.2.
DR UCSC; uc003blo.3; human. [Q9BU23-1]
DR CTD; 91289; -.
DR DisGeNET; 91289; -.
DR GeneCards; LMF2; -.
DR HGNC; HGNC:25096; LMF2.
DR HPA; ENSG00000100258; Tissue enhanced (pancreas).
DR neXtProt; NX_Q9BU23; -.
DR OpenTargets; ENSG00000100258; -.
DR PharmGKB; PA162394144; -.
DR VEuPathDB; HostDB:ENSG00000100258; -.
DR eggNOG; ENOG502QTN6; Eukaryota.
DR GeneTree; ENSGT00530000063702; -.
DR HOGENOM; CLU_020557_1_0_1; -.
DR InParanoid; Q9BU23; -.
DR OMA; FMWFQWD; -.
DR OrthoDB; 759759at2759; -.
DR PhylomeDB; Q9BU23; -.
DR TreeFam; TF314339; -.
DR PathwayCommons; Q9BU23; -.
DR Reactome; R-HSA-8963889; Assembly of active LPL and LIPC lipase complexes.
DR SignaLink; Q9BU23; -.
DR BioGRID-ORCS; 91289; 12 hits in 1082 CRISPR screens.
DR ChiTaRS; LMF2; human.
DR GenomeRNAi; 91289; -.
DR Pharos; Q9BU23; Tdark.
DR PRO; PR:Q9BU23; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BU23; protein.
DR Bgee; ENSG00000100258; Expressed in body of pancreas and 177 other tissues.
DR Genevisible; Q9BU23; 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:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0051604; P:protein maturation; IBA:GO_Central.
DR InterPro; IPR009613; LMF.
DR PANTHER; PTHR14463; PTHR14463; 1.
DR Pfam; PF06762; LMF1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endoplasmic reticulum; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..707
FT /note="Lipase maturation factor 2"
FT /id="PRO_0000324510"
FT TRANSMEM 10..30
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 102..122
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 165..185
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 227..247
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 259..279
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 310..330
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 364..384
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 399..419
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 637..657
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 665..707
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 681..700
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 489
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 616
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..31
FT /note="MAGSRLPRQLFLQGVAAVFMFAFASLYTQIP -> MTCPPT (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032254"
FT VAR_SEQ 392..504
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032255"
FT VARIANT 68
FT /note="P -> L (in a breast cancer sample; somatic mutation;
FT dbSNP:rs376748648)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_039803"
FT VARIANT 479
FT /note="T -> M (in dbSNP:rs8136495)"
FT /id="VAR_039804"
FT CONFLICT 571
FT /note="E -> G (in Ref. 4; BAC85437)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 707 AA; 79698 MW; F3599AE9549C7E62 CRC64;
MAGSRLPRQL FLQGVAAVFM FAFASLYTQI PGLYGPEGIL PARRTLRPQG KGRWQQLWET
PTLLWEAPRL GLDTAQGLEL LSLLGALVAL GALLLSPLRH PVIYLLLWAA YLSACQVGQV
FLYFQWDSLL LETGFLAVLV APLRPASHRK EAPQGRQAGA LPHEDLPFWL VRWLLFRLMF
ASGVVKLTSR CPAWWGLTAL TYHYETQCLP TPAAWFAHHL PVWLHKLSVV ATFLIEIAVP
PLFFAPIRRL RLAAFYSQVL LQVLIIITGN YNFFNLMTLV LTTALLDDQH LAAEPGHGSR
KKTATSWPKA LLATLSLLLE LAVYGLLAYG TVHYFGLEVD WQQRTIHSRT TFTFHQFSQW
LKTLTLPTVW LGVASLVWEL LSALWRWTQV RGWLRKLSAV VQLSLVGTAT VALFLISLVP
YSYVEPGTHG RLWTGAHRLF GAVEHLQLAN SYGLFRRMTG LGGRPEVVLE GSYDGHHWTE
IEFMYKPGNL SRPPPVVVPH QPRLDWQMWF AALGPHTHSP WFTSLVLRLL QGKEPVIRLV
QSQVARYPFH KQPPTYVRAQ RYKYWFSQPG EQGQWWRRQW VEEFFPSVSL GDPTLETLLR
QFGLQEKSPP RTRSANSTLA QALHWTRSQL SPLEAPALLW GLLMAVGAVR FVQALLAPCS
LRSSPLAPVS GEKRRPASQK DSGAASEQAT AAPNPCSSSS RTTRRKK
