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Q9BU23

- LMF2_HUMAN

UniProt

Q9BU23 - LMF2_HUMAN

Protein

Lipase maturation factor 2

Gene

LMF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
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    Functioni

    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.By similarity

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lipase maturation factor 2
    Alternative name(s):
    Transmembrane protein 112B
    Transmembrane protein 153
    Gene namesi
    Name:LMF2
    Synonyms:TMEM112B, TMEM153
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:25096. LMF2.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162394144.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 707707Lipase maturation factor 2PRO_0000324510Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi489 – 4891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi616 – 6161N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9BU23.
    PaxDbiQ9BU23.
    PRIDEiQ9BU23.

    PTM databases

    PhosphoSiteiQ9BU23.

    Expressioni

    Gene expression databases

    BgeeiQ9BU23.
    CleanExiHS_LMF2.
    GenevestigatoriQ9BU23.

    Interactioni

    Protein-protein interaction databases

    BioGridi124811. 2 interactions.
    MINTiMINT-4723161.
    STRINGi9606.ENSP00000216080.

    Structurei

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 3021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei78 – 9821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei102 – 12221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei123 – 14321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei165 – 18521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei227 – 24721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei259 – 27921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei310 – 33021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei364 – 38421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei399 – 41921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei637 – 65721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the lipase maturation factor family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG81106.
    HOGENOMiHOG000019333.
    HOVERGENiHBG108090.
    InParanoidiQ9BU23.
    OMAiLYTQIPG.
    OrthoDBiEOG7B31MK.
    PhylomeDBiQ9BU23.
    TreeFamiTF314339.

    Family and domain databases

    InterProiIPR009613. LMF.
    [Graphical view]
    PfamiPF06762. LMF1. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BU23-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAGSRLPRQL FLQGVAAVFM FAFASLYTQI PGLYGPEGIL PARRTLRPQG    50
    KGRWQQLWET PTLLWEAPRL GLDTAQGLEL LSLLGALVAL GALLLSPLRH 100
    PVIYLLLWAA YLSACQVGQV FLYFQWDSLL LETGFLAVLV APLRPASHRK 150
    EAPQGRQAGA LPHEDLPFWL VRWLLFRLMF ASGVVKLTSR CPAWWGLTAL 200
    TYHYETQCLP TPAAWFAHHL PVWLHKLSVV ATFLIEIAVP PLFFAPIRRL 250
    RLAAFYSQVL LQVLIIITGN YNFFNLMTLV LTTALLDDQH LAAEPGHGSR 300
    KKTATSWPKA LLATLSLLLE LAVYGLLAYG TVHYFGLEVD WQQRTIHSRT 350
    TFTFHQFSQW LKTLTLPTVW LGVASLVWEL LSALWRWTQV RGWLRKLSAV 400
    VQLSLVGTAT VALFLISLVP YSYVEPGTHG RLWTGAHRLF GAVEHLQLAN 450
    SYGLFRRMTG LGGRPEVVLE GSYDGHHWTE IEFMYKPGNL SRPPPVVVPH 500
    QPRLDWQMWF AALGPHTHSP WFTSLVLRLL QGKEPVIRLV QSQVARYPFH 550
    KQPPTYVRAQ RYKYWFSQPG EQGQWWRRQW VEEFFPSVSL GDPTLETLLR 600
    QFGLQEKSPP RTRSANSTLA QALHWTRSQL SPLEAPALLW GLLMAVGAVR 650
    FVQALLAPCS LRSSPLAPVS GEKRRPASQK DSGAASEQAT AAPNPCSSSS 700
    RTTRRKK 707
    Length:707
    Mass (Da):79,698
    Last modified:March 1, 2004 - v2
    Checksum:iF3599AE9549C7E62
    GO
    Isoform 2 (identifier: Q9BU23-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:682
    Mass (Da):76,915
    Checksum:i232E393DC1F5A51D
    GO
    Isoform 3 (identifier: Q9BU23-3) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:594
    Mass (Da):67,156
    Checksum:i03FAAE2CF75D5BAF
    GO

    Sequence cautioni

    The sequence BAC85437.1 differs from that shown. Reason: Chimeric cDNA.
    The sequence AAB03346.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti571 – 5711E → G in BAC85437. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti68 – 681P → L in a breast cancer sample; somatic mutation. 1 Publication
    VAR_039803
    Natural varianti479 – 4791T → M.
    Corresponds to variant rs8136495 [ dbSNP | Ensembl ].
    VAR_039804

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3131MAGSR…YTQIP → MTCPPT in isoform 2. 1 PublicationVSP_032254Add
    BLAST
    Alternative sequencei392 – 504113Missing in isoform 3. 1 PublicationVSP_032255Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS14093.2. [Q9BU23-1]
    RefSeqiNP_149977.2. NM_033200.2. [Q9BU23-1]
    XP_005262012.1. XM_005261955.1. [Q9BU23-2]
    UniGeneiHs.150540.

    Genome annotation databases

    EnsembliENST00000216080; ENSP00000216080; ENSG00000100258. [Q9BU23-2]
    ENST00000474879; ENSP00000424381; ENSG00000100258. [Q9BU23-1]
    GeneIDi91289.
    KEGGihsa:91289.
    UCSCiuc003blo.2. human. [Q9BU23-2]
    uc003blp.2. human. [Q9BU23-1]

    Polymorphism databases

    DMDMi74733167.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS14093.2. [Q9BU23-1 ]
    RefSeqi NP_149977.2. NM_033200.2. [Q9BU23-1 ]
    XP_005262012.1. XM_005261955.1. [Q9BU23-2 ]
    UniGenei Hs.150540.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124811. 2 interactions.
    MINTi MINT-4723161.
    STRINGi 9606.ENSP00000216080.

    PTM databases

    PhosphoSitei Q9BU23.

    Polymorphism databases

    DMDMi 74733167.

    Proteomic databases

    MaxQBi Q9BU23.
    PaxDbi Q9BU23.
    PRIDEi Q9BU23.

    Protocols and materials databases

    DNASUi 91289.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000216080 ; ENSP00000216080 ; ENSG00000100258 . [Q9BU23-2 ]
    ENST00000474879 ; ENSP00000424381 ; ENSG00000100258 . [Q9BU23-1 ]
    GeneIDi 91289.
    KEGGi hsa:91289.
    UCSCi uc003blo.2. human. [Q9BU23-2 ]
    uc003blp.2. human. [Q9BU23-1 ]

    Organism-specific databases

    CTDi 91289.
    GeneCardsi GC22M050941.
    H-InvDB HIX0016614.
    HGNCi HGNC:25096. LMF2.
    neXtProti NX_Q9BU23.
    PharmGKBi PA162394144.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG81106.
    HOGENOMi HOG000019333.
    HOVERGENi HBG108090.
    InParanoidi Q9BU23.
    OMAi LYTQIPG.
    OrthoDBi EOG7B31MK.
    PhylomeDBi Q9BU23.
    TreeFami TF314339.

    Miscellaneous databases

    ChiTaRSi LMF2. human.
    GenomeRNAii 91289.
    NextBioi 77159.
    PROi Q9BU23.

    Gene expression databases

    Bgeei Q9BU23.
    CleanExi HS_LMF2.
    Genevestigatori Q9BU23.

    Family and domain databases

    InterProi IPR009613. LMF.
    [Graphical view ]
    Pfami PF06762. LMF1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-68.

    Entry informationi

    Entry nameiLMF2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BU23
    Secondary accession number(s): A6NEZ0
    , Q13392, Q6ZNR2, Q8WU74, Q96C62
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: March 1, 2004
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3