Q9BU23 (LMF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lipase maturation factor 2

Alternative name(s):
Transmembrane protein 112B
Transmembrane protein 153

Gene names

Name:	LMF2
Synonyms:	TMEM112B, TMEM153

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	707 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Sequence similarities	Belongs to the lipase maturation factor family.
Sequence caution	The sequence AAB03346.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAC85437.1 differs from that shown. Reason: Chimeric cDNA.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BU23-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BU23-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: MAGSRLPRQLFLQGVAAVFMFAFASLYTQIP → MTCPPT

Isoform 3 (identifier: Q9BU23-3)

The sequence of this isoform differs from the canonical sequence as follows:
     392-504: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 707	707	Lipase maturation factor 2		PRO_0000324510
Regions
	Transmembrane	10 – 30	21	Helical; Potential
	Transmembrane	78 – 98	21	Helical; Potential
	Transmembrane	102 – 122	21	Helical; Potential
	Transmembrane	123 – 143	21	Helical; Potential
	Transmembrane	165 – 185	21	Helical; Potential
	Transmembrane	227 – 247	21	Helical; Potential
	Transmembrane	259 – 279	21	Helical; Potential
	Transmembrane	310 – 330	21	Helical; Potential
	Transmembrane	364 – 384	21	Helical; Potential
	Transmembrane	399 – 419	21	Helical; Potential
	Transmembrane	637 – 657	21	Helical; Potential
Amino acid modifications
	Glycosylation	489	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 31	31	MAGSR…YTQIP → MTCPPT in isoform 2.		VSP_032254
	Alternative sequence	392 – 504	113	Missing in isoform 3.		VSP_032255
	Natural variant	68	1	P → L in a breast cancer sample; somatic mutation. Ref.7		VAR_039803
	Natural variant	479	1	T → M. Corresponds to variant rs8136495 [ dbSNP | Ensembl ].		VAR_039804
Experimental info
	Sequence conflict	571	1	E → G in BAC85437. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2004. Version 2. Checksum: F3599AE9549C7E62	FASTA	707	79,698
	10 20 30 40 50 60 MAGSRLPRQL FLQGVAAVFM FAFASLYTQI PGLYGPEGIL PARRTLRPQG KGRWQQLWET 70 80 90 100 110 120 PTLLWEAPRL GLDTAQGLEL LSLLGALVAL GALLLSPLRH PVIYLLLWAA YLSACQVGQV 130 140 150 160 170 180 FLYFQWDSLL LETGFLAVLV APLRPASHRK EAPQGRQAGA LPHEDLPFWL VRWLLFRLMF 190 200 210 220 230 240 ASGVVKLTSR CPAWWGLTAL TYHYETQCLP TPAAWFAHHL PVWLHKLSVV ATFLIEIAVP 250 260 270 280 290 300 PLFFAPIRRL RLAAFYSQVL LQVLIIITGN YNFFNLMTLV LTTALLDDQH LAAEPGHGSR 310 320 330 340 350 360 KKTATSWPKA LLATLSLLLE LAVYGLLAYG TVHYFGLEVD WQQRTIHSRT TFTFHQFSQW 370 380 390 400 410 420 LKTLTLPTVW LGVASLVWEL LSALWRWTQV RGWLRKLSAV VQLSLVGTAT VALFLISLVP 430 440 450 460 470 480 YSYVEPGTHG RLWTGAHRLF GAVEHLQLAN SYGLFRRMTG LGGRPEVVLE GSYDGHHWTE 490 500 510 520 530 540 IEFMYKPGNL SRPPPVVVPH QPRLDWQMWF AALGPHTHSP WFTSLVLRLL QGKEPVIRLV 550 560 570 580 590 600 QSQVARYPFH KQPPTYVRAQ RYKYWFSQPG EQGQWWRRQW VEEFFPSVSL GDPTLETLLR 610 620 630 640 650 660 QFGLQEKSPP RTRSANSTLA QALHWTRSQL SPLEAPALLW GLLMAVGAVR FVQALLAPCS 670 680 690 700 LRSSPLAPVS GEKRRPASQK DSGAASEQAT AAPNPCSSSS RTTRRKK
	Isoform 2 [UniParc]. Checksum: 232E393DC1F5A51D	FASTA	682	76,915
	10 20 30 40 50 60 MTCPPTGLYG PEGILPARRT LRPQGKGRWQ QLWETPTLLW EAPRLGLDTA QGLELLSLLG 70 80 90 100 110 120 ALVALGALLL SPLRHPVIYL LLWAAYLSAC QVGQVFLYFQ WDSLLLETGF LAVLVAPLRP 130 140 150 160 170 180 ASHRKEAPQG RQAGALPHED LPFWLVRWLL FRLMFASGVV KLTSRCPAWW GLTALTYHYE 190 200 210 220 230 240 TQCLPTPAAW FAHHLPVWLH KLSVVATFLI EIAVPPLFFA PIRRLRLAAF YSQVLLQVLI 250 260 270 280 290 300 IITGNYNFFN LMTLVLTTAL LDDQHLAAEP GHGSRKKTAT SWPKALLATL SLLLELAVYG 310 320 330 340 350 360 LLAYGTVHYF GLEVDWQQRT IHSRTTFTFH QFSQWLKTLT LPTVWLGVAS LVWELLSALW 370 380 390 400 410 420 RWTQVRGWLR KLSAVVQLSL VGTATVALFL ISLVPYSYVE PGTHGRLWTG AHRLFGAVEH 430 440 450 460 470 480 LQLANSYGLF RRMTGLGGRP EVVLEGSYDG HHWTEIEFMY KPGNLSRPPP VVVPHQPRLD 490 500 510 520 530 540 WQMWFAALGP HTHSPWFTSL VLRLLQGKEP VIRLVQSQVA RYPFHKQPPT YVRAQRYKYW 550 560 570 580 590 600 FSQPGEQGQW WRRQWVEEFF PSVSLGDPTL ETLLRQFGLQ EKSPPRTRSA NSTLAQALHW 610 620 630 640 650 660 TRSQLSPLEA PALLWGLLMA VGAVRFVQAL LAPCSLRSSP LAPVSGEKRR PASQKDSGAA 670 680 SEQATAAPNP CSSSSRTTRR KK
	Isoform 3 [UniParc]. Checksum: 03FAAE2CF75D5BAF	FASTA	594	67,156
	10 20 30 40 50 60 MAGSRLPRQL FLQGVAAVFM FAFASLYTQI PGLYGPEGIL PARRTLRPQG KGRWQQLWET 70 80 90 100 110 120 PTLLWEAPRL GLDTAQGLEL LSLLGALVAL GALLLSPLRH PVIYLLLWAA YLSACQVGQV 130 140 150 160 170 180 FLYFQWDSLL LETGFLAVLV APLRPASHRK EAPQGRQAGA LPHEDLPFWL VRWLLFRLMF 190 200 210 220 230 240 ASGVVKLTSR CPAWWGLTAL TYHYETQCLP TPAAWFAHHL PVWLHKLSVV ATFLIEIAVP 250 260 270 280 290 300 PLFFAPIRRL RLAAFYSQVL LQVLIIITGN YNFFNLMTLV LTTALLDDQH LAAEPGHGSR 310 320 330 340 350 360 KKTATSWPKA LLATLSLLLE LAVYGLLAYG TVHYFGLEVD WQQRTIHSRT TFTFHQFSQW 370 380 390 400 410 420 LKTLTLPTVW LGVASLVWEL LSALWRWTQV RDWQMWFAAL GPHTHSPWFT SLVLRLLQGK 430 440 450 460 470 480 EPVIRLVQSQ VARYPFHKQP PTYVRAQRYK YWFSQPGEQG QWWRRQWVEE FFPSVSLGDP 490 500 510 520 530 540 TLETLLRQFG LQEKSPPRTR SANSTLAQAL HWTRSQLSPL EAPALLWGLL MAVGAVRFVQ 550 560 570 580 590 ALLAPCSLRS SPLAPVSGEK RRPASQKDSG AASEQATAAP NPCSSSSRTT RRKK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A genome annotation-driven approach to cloning the human ORFeome." 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. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]	"The DNA sequence of human chromosome 22." 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. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney and Skin.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 317-707 (ISOFORM 3). Tissue: Thymus.
[5]	"Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia." 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. Nat. Genet. 39:1483-1487(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[6]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[7]	"The consensus coding sequences of human breast and colorectal cancers." 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. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-68.

Cross-references

Sequence databases
EMBL GenBank DDBJ	CR456605 mRNA. Translation: CAG30491.1. U62317 Genomic DNA. Translation: AAB03346.1. Sequence problems. BC002942 mRNA. Translation: AAH02942.2. BC014652 mRNA. Translation: AAH14652.1. BC021143 mRNA. Translation: AAH21143.1. AK130818 mRNA. Translation: BAC85437.1. Sequence problems.
IPI	IPI00385495. IPI00852693. IPI00854764.
RefSeq	NP_149977.2. NM_033200.2.
UniGene	Hs.150540.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000216080.
PTM databases
PhosphoSite	Q9BU23.
Polymorphism databases
DMDM	74733167.
Proteomic databases
PaxDb	Q9BU23.
PRIDE	Q9BU23.
Protocols and materials databases
DNASU	91289.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000216080; ENSP00000216080; ENSG00000100258. ENST00000380796; ENSP00000370173; ENSG00000100258. ENST00000474879; ENSP00000424381; ENSG00000100258.
GeneID	91289.
KEGG	hsa:91289.
UCSC	uc003blo.2. human. uc003blp.2. human.
Organism-specific databases
CTD	91289.
GeneCards	GC22M050941.
H-InvDB	HIX0016614.
HGNC	HGNC:25096. LMF2.
neXtProt	NX_Q9BU23.
PharmGKB	PA162394144.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG81106.
HOGENOM	HOG000019333.
HOVERGEN	HBG108090.
InParanoid	Q9BU23.
OrthoDB	EOG4W6NVR.
Gene expression databases
Bgee	Q9BU23.
CleanEx	HS_LMF2.
Genevestigator	Q9BU23.
Family and domain databases
InterPro	IPR009613. LMF. [Graphical view]
Pfam	PF06762. LMF1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	LMF2. human.
GenomeRNAi	91289.
NextBio	77159.

Entry information

Entry name

LMF2_HUMAN

Accession

Primary (citable) accession number: Q9BU23
Secondary accession number(s): A6NEZ0 , Q13392, Q6ZNR2, Q8WU74, Q96C62

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	March 1, 2004
Last modified:	April 3, 2013
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.