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Protein

Lipase maturation factor 1

Gene

LMF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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. Each LMF1 molecule chaperones 50 or more molecules of LPL.By similarity1 Publication

GO - Biological processi

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

ReactomeiR-HSA-8963889 Assembly of active LPL and LIPC lipase complexes

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103227.18
HGNCiHGNC:14154 LMF1
MIMi611761 gene
neXtProtiNX_Q96S06

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 49CytoplasmicSequence analysisAdd BLAST49
Transmembranei50 – 72HelicalSequence analysisAdd BLAST23
Topological domaini73 – 127LumenalSequence analysisAdd BLAST55
Transmembranei128 – 151HelicalSequence analysisAdd BLAST24
Topological domaini152 – 207CytoplasmicSequence analysisAdd BLAST56
Transmembranei208 – 221HelicalSequence analysisAdd BLAST14
Topological domaini222 – 292LumenalSequence analysisAdd BLAST71
Transmembranei293 – 321HelicalSequence analysisAdd BLAST29
Topological domaini322 – 367CytoplasmicSequence analysisAdd BLAST46
Transmembranei368 – 388HelicalSequence analysisAdd BLAST21
Topological domaini389 – 567LumenalSequence analysisAdd BLAST179

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Combined lipase deficiency (CLD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).
See also OMIM:246650

Organism-specific databases

DisGeNETi64788
MalaCardsiLMF1
MIMi246650 phenotype
OpenTargetsiENSG00000103227
Orphaneti444490 Familial chylomicronemia syndrome
PharmGKBiPA25540

Polymorphism and mutation databases

BioMutaiLMF1
DMDMi74717262

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002767391 – 567Lipase maturation factor 1Add BLAST567

Proteomic databases

EPDiQ96S06
MaxQBiQ96S06
PaxDbiQ96S06
PeptideAtlasiQ96S06
PRIDEiQ96S06
ProteomicsDBi78050

PTM databases

iPTMnetiQ96S06
PhosphoSitePlusiQ96S06

Expressioni

Gene expression databases

BgeeiENSG00000103227 Expressed in 216 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_LMF1
ExpressionAtlasiQ96S06 baseline and differential
GenevisibleiQ96S06 HS

Interactioni

Subunit structurei

Interacts with LPL and SEL1L.By similarity

Protein-protein interaction databases

BioGridi122298, 20 interactors
STRINGi9606.ENSP00000262301

Structurei

3D structure databases

ProteinModelPortaliQ96S06
SMRiQ96S06
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the lipase maturation factor family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHGU Eukaryota
ENOG410XPYW LUCA
GeneTreeiENSGT00530000063702
HOGENOMiHOG000242315
HOVERGENiHBG101974
InParanoidiQ96S06
OMAiNFAWLNW
OrthoDBiEOG091G05XZ
PhylomeDBiQ96S06
TreeFamiTF314339

Family and domain databases

InterProiView protein in InterPro
IPR009613 LMF
PANTHERiPTHR14463 PTHR14463, 1 hit
PfamiView protein in Pfam
PF06762 LMF1, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96S06-1) [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
        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
Isoform 2 (identifier: Q96S06-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.

Note: No experimental confirmation available.
Show »
Length:330
Mass (Da):37,888
Checksum:i977FE1D0D0756515
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BVI4H3BVI4_HUMAN
Lipase maturation factor
LMF1 LA16c-360B4.1, hCG_22432
350Annotation score:
H3BN37H3BN37_HUMAN
Lipase maturation factor
LMF1
198Annotation score:
H3BP58H3BP58_HUMAN
Lipase maturation factor
LMF1
150Annotation score:
B4DFZ0B4DFZ0_HUMAN
Lipase maturation factor 1
LMF1
184Annotation score:
H3BSB7H3BSB7_HUMAN
Lipase maturation factor 1
LMF1
168Annotation score:
H3BUN8H3BUN8_HUMAN
Lipase maturation factor 1
LMF1
161Annotation score:
H3BQC9H3BQC9_HUMAN
Lipase maturation factor 1
LMF1
134Annotation score:
F5H802F5H802_HUMAN
Lipase maturation factor 1
LMF1
95Annotation score:
H3BQT4H3BQT4_HUMAN
Lipase maturation factor 1
LMF1
149Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti36G → D in BAB15295 (PubMed:14702039).Curated1
Sequence conflicti36G → D in BAD38655 (PubMed:15616553).Curated1
Sequence conflicti93N → D in BAB14218 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053829164V → A. Corresponds to variant dbSNP:rs35663121Ensembl.1
Natural variantiVAR_030487203S → P1 PublicationCorresponds to variant dbSNP:rs11540337Ensembl.1
Natural variantiVAR_053830364R → Q. Corresponds to variant dbSNP:rs35168378Ensembl.1
Natural variantiVAR_030488562P → R. Corresponds to variant dbSNP:rs4984948Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0573881 – 237Missing in isoform 2. 1 PublicationAdd BLAST237

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022743 mRNA Translation: BAB14218.1
AK025955 mRNA Translation: BAB15295.1 Different initiation.
AK093050 mRNA Translation: BAG52642.1
AE006465 Genomic DNA Translation: AAK61259.1
AC009041 Genomic DNA No translation available.
AL008727 Genomic DNA No translation available.
AL031008 Genomic DNA No translation available.
AL031716 Genomic DNA No translation available.
KF456135 Genomic DNA No translation available.
KF456139 Genomic DNA No translation available.
KF456141 Genomic DNA No translation available.
KF456144 Genomic DNA No translation available.
Z93041 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85700.1
AB075873 mRNA Translation: BAD38655.1
BC010738 mRNA Translation: AAH10738.2
CCDSiCCDS45373.1 [Q96S06-1]
RefSeqiNP_073610.2, NM_022773.2 [Q96S06-1]
XP_006720991.1, XM_006720928.2
UniGeneiHs.71912
Hs.745022

Genome annotation databases

EnsembliENST00000262301; ENSP00000262301; ENSG00000103227 [Q96S06-1]
ENST00000543238; ENSP00000437418; ENSG00000103227 [Q96S06-2]
GeneIDi64788
KEGGihsa:64788
UCSCiuc010bri.4 human
uc059otd.1 human [Q96S06-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022743 mRNA Translation: BAB14218.1
AK025955 mRNA Translation: BAB15295.1 Different initiation.
AK093050 mRNA Translation: BAG52642.1
AE006465 Genomic DNA Translation: AAK61259.1
AC009041 Genomic DNA No translation available.
AL008727 Genomic DNA No translation available.
AL031008 Genomic DNA No translation available.
AL031716 Genomic DNA No translation available.
KF456135 Genomic DNA No translation available.
KF456139 Genomic DNA No translation available.
KF456141 Genomic DNA No translation available.
KF456144 Genomic DNA No translation available.
Z93041 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85700.1
AB075873 mRNA Translation: BAD38655.1
BC010738 mRNA Translation: AAH10738.2
CCDSiCCDS45373.1 [Q96S06-1]
RefSeqiNP_073610.2, NM_022773.2 [Q96S06-1]
XP_006720991.1, XM_006720928.2
UniGeneiHs.71912
Hs.745022

3D structure databases

ProteinModelPortaliQ96S06
SMRiQ96S06
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122298, 20 interactors
STRINGi9606.ENSP00000262301

PTM databases

iPTMnetiQ96S06
PhosphoSitePlusiQ96S06

Polymorphism and mutation databases

BioMutaiLMF1
DMDMi74717262

Proteomic databases

EPDiQ96S06
MaxQBiQ96S06
PaxDbiQ96S06
PeptideAtlasiQ96S06
PRIDEiQ96S06
ProteomicsDBi78050

Protocols and materials databases

DNASUi64788
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262301; ENSP00000262301; ENSG00000103227 [Q96S06-1]
ENST00000543238; ENSP00000437418; ENSG00000103227 [Q96S06-2]
GeneIDi64788
KEGGihsa:64788
UCSCiuc010bri.4 human
uc059otd.1 human [Q96S06-1]

Organism-specific databases

CTDi64788
DisGeNETi64788
EuPathDBiHostDB:ENSG00000103227.18
GeneCardsiLMF1
HGNCiHGNC:14154 LMF1
MalaCardsiLMF1
MIMi246650 phenotype
611761 gene
neXtProtiNX_Q96S06
OpenTargetsiENSG00000103227
Orphaneti444490 Familial chylomicronemia syndrome
PharmGKBiPA25540
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHGU Eukaryota
ENOG410XPYW LUCA
GeneTreeiENSGT00530000063702
HOGENOMiHOG000242315
HOVERGENiHBG101974
InParanoidiQ96S06
OMAiNFAWLNW
OrthoDBiEOG091G05XZ
PhylomeDBiQ96S06
TreeFamiTF314339

Enzyme and pathway databases

ReactomeiR-HSA-8963889 Assembly of active LPL and LIPC lipase complexes

Miscellaneous databases

ChiTaRSiLMF1 human
GeneWikiiTMEM112
GenomeRNAii64788
PROiPR:Q96S06
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103227 Expressed in 216 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_LMF1
ExpressionAtlasiQ96S06 baseline and differential
GenevisibleiQ96S06 HS

Family and domain databases

InterProiView protein in InterPro
IPR009613 LMF
PANTHERiPTHR14463 PTHR14463, 1 hit
PfamiView protein in Pfam
PF06762 LMF1, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLMF1_HUMAN
AccessioniPrimary (citable) accession number: Q96S06
Secondary accession number(s): B3KS80
, Q68CJ3, Q96FJ4, Q9H6G4, Q9H9K7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 109 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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