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Q96S06

- LMF1_HUMAN

UniProt

Q96S06 - LMF1_HUMAN

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Protein

Lipase maturation factor 1

Gene

LMF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ96S06.
CleanExiHS_LMF1.
ExpressionAtlasiQ96S06. baseline and differential.
GenevestigatoriQ96S06.

Organism-specific databases

HPAiHPA018147.

Interactioni

Protein-protein interaction databases

BioGridi122298. 19 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.
GeneTreeiENSGT00530000063702.
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

        10         20         30         40         50
MRPDSPTMAA PAESLRRRKT GYSDPEPESP PAPGRGPAGS PAHLHTGTFW
60 70 80 90 100
LTRIVLLKAL AFVYFVAFLV AFHQNKQLIG DRGLLPCRVF LKNFQQYFQD
110 120 130 140 150
RTSWEVFSYM PTILWLMDWS DMNSNLDLLA LLGLGISSFV LITGCANMLL
160 170 180 190 200
MAALWGLYMS LVNVGHVWYS FGWESQLLET GFLGIFLCPL WTLSRLPQHT
210 220 230 240 250
PTSRIVLWGF RWLIFRIMLG AGLIKIRGDR CWRDLTCMDF HYETQPMPNP
260 270 280 290 300
VAYYLHHSPW WFHRFETLSN HFIELLVPFF LFLGRRACII HGVLQILFQA
310 320 330 340 350
VLIVSGNLSF LNWLTMVPSL ACFDDATLGF LFPSGPGSLK DRVLQMQRDI
360 370 380 390 400
RGARPEPRFG SVVRRAANVS LGVLLAWLSV PVVLNLLSSR QVMNTHFNSL
410 420 430 440 450
HIVNTYGAFG SITKERAEVI LQGTASSNAS APDAMWEDYE FKCKPGDPSR
460 470 480 490 500
RPCLISPYHY RLDWLMWFAA FQTYEHNDWI IHLAGKLLAS DAEALSLLAH
510 520 530 540 550
NPFAGRPPPR WVRGEHYRYK FSRPGGRHAA EGKWWVRKRI GAYFPPLSLE
560
ELRPYFRDRG WPLPGPL
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. 19 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.
GeneTreei ENSGT00530000063702.
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

Bgeei Q96S06.
CleanExi HS_LMF1.
ExpressionAtlasi Q96S06. baseline and differential.
Genevestigatori Q96S06.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 78 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