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Q96S06

- LMF1_HUMAN

UniProt

Q96S06 - LMF1_HUMAN

Protein

Lipase maturation factor 1

Gene

LMF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway By similarity.By similarity

    GO - Biological processi

    1. chylomicron remnant clearance Source: Ensembl
    2. ER to Golgi vesicle-mediated transport Source: Ensembl
    3. positive regulation of lipoprotein lipase activity Source: Ensembl
    4. protein glycosylation in Golgi Source: Ensembl
    5. protein maturation Source: Ensembl
    6. protein secretion Source: Ensembl
    7. regulation of cholesterol metabolic process Source: Ensembl
    8. regulation of triglyceride metabolic process Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lipase maturation factor 1
    Alternative name(s):
    Transmembrane protein 112
    Gene namesi
    Name:LMF1
    Synonyms:C16orf26, TMEM112
    ORF Names:HMFN1876, JFP11
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:14154. LMF1.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Combined lipase deficiency (CLD) [MIM:246650]: Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi246650. phenotype.
    Orphaneti411. Hyperlipoproteinemia type 1.
    PharmGKBiPA25540.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 567567Lipase maturation factor 1PRO_0000276739Add
    BLAST

    Proteomic databases

    MaxQBiQ96S06.
    PaxDbiQ96S06.
    PRIDEiQ96S06.

    PTM databases

    PhosphoSiteiQ96S06.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96S06.
    BgeeiQ96S06.
    CleanExiHS_LMF1.
    GenevestigatoriQ96S06.

    Organism-specific databases

    HPAiHPA018147.

    Interactioni

    Protein-protein interaction databases

    BioGridi122298. 4 interactions.
    STRINGi9606.ENSP00000262301.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96S06.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4949CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini73 – 12755LumenalSequence AnalysisAdd
    BLAST
    Topological domaini152 – 20756CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini222 – 29271LumenalSequence AnalysisAdd
    BLAST
    Topological domaini322 – 36746CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini389 – 567179LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei50 – 7223HelicalSequence AnalysisAdd
    BLAST
    Transmembranei128 – 15124HelicalSequence AnalysisAdd
    BLAST
    Transmembranei208 – 22114HelicalSequence AnalysisAdd
    BLAST
    Transmembranei293 – 32129HelicalSequence AnalysisAdd
    BLAST
    Transmembranei368 – 38821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the lipase maturation factor family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG81106.
    HOGENOMiHOG000242315.
    HOVERGENiHBG101974.
    InParanoidiQ96S06.
    OMAiQIWYSFG.
    OrthoDBiEOG7B31MK.
    PhylomeDBiQ96S06.
    TreeFamiTF314339.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q96S06-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRPDSPTMAA PAESLRRRKT GYSDPEPESP PAPGRGPAGS PAHLHTGTFW    50
    LTRIVLLKAL AFVYFVAFLV AFHQNKQLIG DRGLLPCRVF LKNFQQYFQD 100
    RTSWEVFSYM PTILWLMDWS DMNSNLDLLA LLGLGISSFV LITGCANMLL 150
    MAALWGLYMS LVNVGHVWYS FGWESQLLET GFLGIFLCPL WTLSRLPQHT 200
    PTSRIVLWGF RWLIFRIMLG AGLIKIRGDR CWRDLTCMDF HYETQPMPNP 250
    VAYYLHHSPW WFHRFETLSN HFIELLVPFF LFLGRRACII HGVLQILFQA 300
    VLIVSGNLSF LNWLTMVPSL ACFDDATLGF LFPSGPGSLK DRVLQMQRDI 350
    RGARPEPRFG SVVRRAANVS LGVLLAWLSV PVVLNLLSSR QVMNTHFNSL 400
    HIVNTYGAFG SITKERAEVI LQGTASSNAS APDAMWEDYE FKCKPGDPSR 450
    RPCLISPYHY RLDWLMWFAA FQTYEHNDWI IHLAGKLLAS DAEALSLLAH 500
    NPFAGRPPPR WVRGEHYRYK FSRPGGRHAA EGKWWVRKRI GAYFPPLSLE 550
    ELRPYFRDRG WPLPGPL 567
    Length:567
    Mass (Da):64,873
    Last modified:December 1, 2001 - v1
    Checksum:i6D4C80741D1DD0D5
    GO

    Sequence cautioni

    The sequence BAB15295.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti36 – 361G → D in BAB15295. (PubMed:14702039)Curated
    Sequence conflicti36 – 361G → D in BAD38655. (PubMed:15221005)Curated
    Sequence conflicti93 – 931N → D in BAB14218. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti164 – 1641V → A.
    Corresponds to variant rs35663121 [ dbSNP | Ensembl ].
    VAR_053829
    Natural varianti203 – 2031S → P.1 Publication
    Corresponds to variant rs11540337 [ dbSNP | Ensembl ].
    VAR_030487
    Natural varianti364 – 3641R → Q.
    Corresponds to variant rs35168378 [ dbSNP | Ensembl ].
    VAR_053830
    Natural varianti562 – 5621P → R.
    Corresponds to variant rs4984948 [ dbSNP | Ensembl ].
    VAR_030488

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022743 mRNA. Translation: BAB14218.1.
    AK025955 mRNA. Translation: BAB15295.1. Different initiation.
    AE006465 Genomic DNA. Translation: AAK61259.1.
    AB075873 mRNA. Translation: BAD38655.1.
    BC010738 mRNA. Translation: AAH10738.2.
    CCDSiCCDS45373.1.
    RefSeqiNP_073610.2. NM_022773.2.
    XP_006720991.1. XM_006720928.1.
    UniGeneiHs.71912.

    Genome annotation databases

    EnsembliENST00000262301; ENSP00000262301; ENSG00000103227.
    GeneIDi64788.
    KEGGihsa:64788.
    UCSCiuc002ckk.2. human.

    Polymorphism databases

    DMDMi74717262.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022743 mRNA. Translation: BAB14218.1 .
    AK025955 mRNA. Translation: BAB15295.1 . Different initiation.
    AE006465 Genomic DNA. Translation: AAK61259.1 .
    AB075873 mRNA. Translation: BAD38655.1 .
    BC010738 mRNA. Translation: AAH10738.2 .
    CCDSi CCDS45373.1.
    RefSeqi NP_073610.2. NM_022773.2.
    XP_006720991.1. XM_006720928.1.
    UniGenei Hs.71912.

    3D structure databases

    ProteinModelPortali Q96S06.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122298. 4 interactions.
    STRINGi 9606.ENSP00000262301.

    PTM databases

    PhosphoSitei Q96S06.

    Polymorphism databases

    DMDMi 74717262.

    Proteomic databases

    MaxQBi Q96S06.
    PaxDbi Q96S06.
    PRIDEi Q96S06.

    Protocols and materials databases

    DNASUi 64788.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262301 ; ENSP00000262301 ; ENSG00000103227 .
    GeneIDi 64788.
    KEGGi hsa:64788.
    UCSCi uc002ckk.2. human.

    Organism-specific databases

    CTDi 64788.
    GeneCardsi GC16M000903.
    HGNCi HGNC:14154. LMF1.
    HPAi HPA018147.
    MIMi 246650. phenotype.
    611761. gene.
    neXtProti NX_Q96S06.
    Orphaneti 411. Hyperlipoproteinemia type 1.
    PharmGKBi PA25540.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG81106.
    HOGENOMi HOG000242315.
    HOVERGENi HBG101974.
    InParanoidi Q96S06.
    OMAi QIWYSFG.
    OrthoDBi EOG7B31MK.
    PhylomeDBi Q96S06.
    TreeFami TF314339.

    Miscellaneous databases

    ChiTaRSi LMF1. human.
    GeneWikii TMEM112.
    GenomeRNAii 64788.
    NextBioi 66846.
    PROi Q96S06.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96S06.
    Bgeei Q96S06.
    CleanExi HS_LMF1.
    Genevestigatori Q96S06.

    Family and domain databases

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

    Publicationsi

    1. "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].
      Tissue: Kidney epithelium and Teratocarcinoma.
    2. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
      Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas."
      Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.
      Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-567.
      Tissue: Hepatoblastoma.
    4. "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] OF 78-567, VARIANT PRO-203.
      Tissue: Pancreas.
    5. Cited for: INVOLVEMENT IN CLD.
    6. "Lipase maturation factor LMF1, membrane topology and interaction with lipase proteins in the endoplasmic reticulum."
      Doolittle M.H., Neher S.B., Ben-Zeev O., Ling-Liao J., Gallagher C.M., Hosseini M., Yin F., Wong H., Walter P., Peterfy M.
      J. Biol. Chem. 284:33623-33633(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.

    Entry informationi

    Entry nameiLMF1_HUMAN
    AccessioniPrimary (citable) accession number: Q96S06
    Secondary accession number(s): Q68CJ3
    , Q96FJ4, Q9H6G4, Q9H9K7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 6, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 77 of the entry and version 1 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 16
      Human chromosome 16: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3