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Q9BU23 (LMF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lipase maturation factor 2
Alternative name(s):
Transmembrane protein 112B
Transmembrane protein 153
Gene names
Name:LMF2
Synonyms:TMEM112B, TMEM153
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length707 AA.
Sequence statusComplete.
Protein existenceEvidence 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

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 707707Lipase maturation factor 2
PRO_0000324510

Regions

Transmembrane10 – 3021Helical; Potential
Transmembrane78 – 9821Helical; Potential
Transmembrane102 – 12221Helical; Potential
Transmembrane123 – 14321Helical; Potential
Transmembrane165 – 18521Helical; Potential
Transmembrane227 – 24721Helical; Potential
Transmembrane259 – 27921Helical; Potential
Transmembrane310 – 33021Helical; Potential
Transmembrane364 – 38421Helical; Potential
Transmembrane399 – 41921Helical; Potential
Transmembrane637 – 65721Helical; Potential

Amino acid modifications

Glycosylation4891N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 3131MAGSR…YTQIP → MTCPPT in isoform 2.
VSP_032254
Alternative sequence392 – 504113Missing in isoform 3.
VSP_032255
Natural variant681P → L in a breast cancer sample; somatic mutation. Ref.7
VAR_039803
Natural variant4791T → M.
Corresponds to variant rs8136495 [ dbSNP | Ensembl ].
VAR_039804

Experimental info

Sequence conflict5711E → G in BAC85437. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: F3599AE9549C7E62

FASTA70779,698
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 232E393DC1F5A51D
Show »

FASTA68276,915
Isoform 3 [UniParc].

Checksum: 03FAAE2CF75D5BAF
Show »

FASTA59467,156

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_149977.2. NM_033200.2.
XP_005262012.1. XM_005261955.1.
UniGeneHs.150540.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124811. 2 interactions.
MINTMINT-4723161.
STRING9606.ENSP00000216080.

PTM databases

PhosphoSiteQ9BU23.

Polymorphism databases

DMDM74733167.

Proteomic databases

PaxDbQ9BU23.
PRIDEQ9BU23.

Protocols and materials databases

DNASU91289.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216080; ENSP00000216080; ENSG00000100258. [Q9BU23-2]
ENST00000380796; ENSP00000370173; ENSG00000100258. [Q9BU23-3]
ENST00000474879; ENSP00000424381; ENSG00000100258. [Q9BU23-1]
GeneID91289.
KEGGhsa:91289.
UCSCuc003blo.2. human. [Q9BU23-2]
uc003blp.2. human. [Q9BU23-1]

Organism-specific databases

CTD91289.
GeneCardsGC22M050941.
H-InvDBHIX0016614.
HGNCHGNC:25096. LMF2.
neXtProtNX_Q9BU23.
PharmGKBPA162394144.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG81106.
HOGENOMHOG000019333.
HOVERGENHBG108090.
InParanoidQ9BU23.
OrthoDBEOG7B31MK.
PhylomeDBQ9BU23.
TreeFamTF314339.

Gene expression databases

BgeeQ9BU23.
CleanExHS_LMF2.
GenevestigatorQ9BU23.

Family and domain databases

InterProIPR009613. LMF.
[Graphical view]
PfamPF06762. LMF1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLMF2. human.
GenomeRNAi91289.
NextBio77159.
PROQ9BU23.

Entry information

Entry nameLMF2_HUMAN
AccessionPrimary (citable) accession number: Q9BU23
Secondary accession number(s): A6NEZ0 expand/collapse secondary AC list , Q13392, Q6ZNR2, Q8WU74, Q96C62
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 1, 2004
Last modified: April 16, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM