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Lipase maturation factor 2 (Transmembrane protein 112B) (Transmembrane protein 153)

 LMF2_HUMAN              Reviewed;         707 AA.
Q9BU23; A6NEZ0; Q13392; Q6ZNR2; Q8WU74; Q96C62;
18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
01-MAR-2004, sequence version 2.
27-SEP-2017, entry version 127.
RecName: Full=Lipase maturation factor 2;
AltName: Full=Transmembrane protein 112B;
AltName: Full=Transmembrane protein 153;
Name=LMF2; Synonyms=TMEM112B, TMEM153;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
Beare D.M., Dunham I.;
"A genome annotation-driven approach to cloning the human ORFeome.";
Genome Biol. 5:R84.1-R84.11(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=10591208; DOI=10.1038/990031;
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M.,
Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S.,
Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J.,
Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
Khan A.S., Lane L., Tilahun Y., Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Kidney, and Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 317-707 (ISOFORM 3).
TISSUE=Thymus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
IDENTIFICATION.
PubMed=17994020; DOI=10.1038/ng.2007.24;
Peterfy M., Ben-Zeev O., Mao H.Z., Weissglas-Volkov D.,
Aouizerat B.E., Pullinger C.R., Frost P.H., Kane J.P., Malloy M.J.,
Reue K., Pajukanta P., Doolittle M.H.;
"Mutations in LMF1 cause combined lipase deficiency and severe
hypertriglyceridemia.";
Nat. Genet. 39:1483-1487(2007).
[6]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
Greff Z., Keri G., Stemmann O., Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of
the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
[7]
VARIANT [LARGE SCALE ANALYSIS] LEU-68.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Involved in the maturation of specific proteins in the
endoplasmic reticulum. May be required for maturation and
transport of active lipoprotein lipase (LPL) through the secretory
pathway (By similarity). {ECO:0000250}.
-!- INTERACTION:
Q13137:CALCOCO2; NbExp=3; IntAct=EBI-10298556, EBI-739580;
Q15323:KRT31; NbExp=3; IntAct=EBI-10298556, EBI-948001;
Q6A162:KRT40; NbExp=3; IntAct=EBI-10298556, EBI-10171697;
-!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
{ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q9BU23-1; Sequence=Displayed;
Name=2;
IsoId=Q9BU23-2; Sequence=VSP_032254;
Name=3;
IsoId=Q9BU23-3; Sequence=VSP_032255;
Note=No experimental confirmation available.;
-!- SIMILARITY: Belongs to the lipase maturation factor family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAB03346.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Sequence=BAC85437.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; CR456605; CAG30491.1; -; mRNA.
EMBL; U62317; AAB03346.1; ALT_SEQ; Genomic_DNA.
EMBL; BC002942; AAH02942.2; -; mRNA.
EMBL; BC014652; AAH14652.1; -; mRNA.
EMBL; BC021143; AAH21143.1; -; mRNA.
EMBL; AK130818; BAC85437.1; ALT_SEQ; mRNA.
CCDS; CCDS14093.2; -. [Q9BU23-1]
RefSeq; NP_149977.2; NM_033200.2. [Q9BU23-1]
RefSeq; XP_005262012.1; XM_005261955.3. [Q9BU23-2]
UniGene; Hs.150540; -.
BioGrid; 124811; 40.
IntAct; Q9BU23; 9.
MINT; MINT-4723161; -.
STRING; 9606.ENSP00000424381; -.
iPTMnet; Q9BU23; -.
PhosphoSitePlus; Q9BU23; -.
SwissPalm; Q9BU23; -.
BioMuta; LMF2; -.
DMDM; 74733167; -.
EPD; Q9BU23; -.
MaxQB; Q9BU23; -.
PaxDb; Q9BU23; -.
PeptideAtlas; Q9BU23; -.
PRIDE; Q9BU23; -.
DNASU; 91289; -.
Ensembl; ENST00000216080; ENSP00000216080; ENSG00000100258. [Q9BU23-2]
Ensembl; ENST00000474879; ENSP00000424381; ENSG00000100258. [Q9BU23-1]
GeneID; 91289; -.
KEGG; hsa:91289; -.
UCSC; uc003blo.3; human. [Q9BU23-1]
CTD; 91289; -.
DisGeNET; 91289; -.
EuPathDB; HostDB:ENSG00000100258.17; -.
GeneCards; LMF2; -.
H-InvDB; HIX0016614; -.
HGNC; HGNC:25096; LMF2.
HPA; HPA062626; -.
neXtProt; NX_Q9BU23; -.
OpenTargets; ENSG00000100258; -.
PharmGKB; PA162394144; -.
eggNOG; ENOG410IFKQ; Eukaryota.
eggNOG; ENOG410XPYW; LUCA.
GeneTree; ENSGT00530000063702; -.
HOGENOM; HOG000019333; -.
HOVERGEN; HBG108090; -.
InParanoid; Q9BU23; -.
OMA; NFAWLNW; -.
OrthoDB; EOG091G05XZ; -.
PhylomeDB; Q9BU23; -.
TreeFam; TF314339; -.
Reactome; R-HSA-8963889; Assembly of active LPL and LIPC lipase complexes.
ChiTaRS; LMF2; human.
GenomeRNAi; 91289; -.
PRO; PR:Q9BU23; -.
Proteomes; UP000005640; Chromosome 22.
Bgee; ENSG00000100258; -.
CleanEx; HS_LMF2; -.
Genevisible; Q9BU23; HS.
GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0016020; C:membrane; IDA:UniProtKB.
GO; GO:0051604; P:protein maturation; IBA:GO_Central.
InterPro; IPR009613; LMF.
Pfam; PF06762; LMF1; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Endoplasmic reticulum;
Glycoprotein; Membrane; Polymorphism; Reference proteome;
Transmembrane; Transmembrane helix.
CHAIN 1 707 Lipase maturation factor 2.
/FTId=PRO_0000324510.
TRANSMEM 10 30 Helical. {ECO:0000255}.
TRANSMEM 78 98 Helical. {ECO:0000255}.
TRANSMEM 102 122 Helical. {ECO:0000255}.
TRANSMEM 123 143 Helical. {ECO:0000255}.
TRANSMEM 165 185 Helical. {ECO:0000255}.
TRANSMEM 227 247 Helical. {ECO:0000255}.
TRANSMEM 259 279 Helical. {ECO:0000255}.
TRANSMEM 310 330 Helical. {ECO:0000255}.
TRANSMEM 364 384 Helical. {ECO:0000255}.
TRANSMEM 399 419 Helical. {ECO:0000255}.
TRANSMEM 637 657 Helical. {ECO:0000255}.
CARBOHYD 489 489 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 616 616 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 1 31 MAGSRLPRQLFLQGVAAVFMFAFASLYTQIP -> MTCPPT
(in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_032254.
VAR_SEQ 392 504 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_032255.
VARIANT 68 68 P -> L (in a breast cancer sample;
somatic mutation; dbSNP:rs376748648).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_039803.
VARIANT 479 479 T -> M (in dbSNP:rs8136495).
/FTId=VAR_039804.
CONFLICT 571 571 E -> G (in Ref. 4; BAC85437).
{ECO:0000305}.
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


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