Q96S06 · LMF1_HUMAN

  • Protein
    Lipase maturation factor 1
  • Gene
    LMF1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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.

Caution

Additional evidence for its localization to the endoplasmic reticulum membrane was found. However this paper was retracted due to manipulation of data.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentendoplasmic reticulum membrane
Biological Processprotein maturation
Biological Processtriglyceride metabolic process

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Lipase maturation factor 1
  • Alternative names
    • Transmembrane protein 112

Gene names

    • Name
      LMF1
    • Synonyms
      C16orf26, TMEM112
    • ORF names
      HMFN1876, JFP11

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q96S06
  • Secondary accessions
    • B3KS80
    • Q68CJ3
    • Q96FJ4
    • Q9H6G4
    • Q9H9K7

Proteomes

Organism-specific databases

Subcellular Location

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain1-49Cytoplasmic
Transmembrane50-72Helical
Topological domain73-127Lumenal
Transmembrane128-151Helical
Topological domain152-207Cytoplasmic
Transmembrane208-221Helical
Topological domain222-292Lumenal
Transmembrane293-321Helical
Topological domain322-367Cytoplasmic
Transmembrane368-388Helical
Topological domain389-567Lumenal

Keywords

Disease & Variants

Involvement in disease

Combined lipase deficiency (CLD)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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).
  • See also
    MIM:246650

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_053829164in dbSNP:rs35663121
Natural variantVAR_030487203in dbSNP:rs11540337
Natural variantVAR_053830364in dbSNP:rs35168378
Natural variantVAR_030488562in dbSNP:rs4984948

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 873 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain.

TypeIDPosition(s)Description
ChainPRO_00002767391-567Lipase maturation factor 1

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with LPL and SEL1L.

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region.

TypeIDPosition(s)Description
Region1-39Disordered

Sequence similarities

Belongs to the lipase maturation factor family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

Q96S06-1

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.

  • Length
    567
  • Mass (Da)
    64,873
  • Last updated
    2001-12-01 v1
  • Checksum
    6D4C80741D1DD0D5
MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKALAFVYFVAFLVAFHQNKQLIGDRGLLPCRVFLKNFQQYFQDRTSWEVFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFVLITGCANMLLMAALWGLYMSLVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHTPTSRIVLWGFRWLIFRIMLGAGLIKIRGDRCWRDLTCMDFHYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQAVLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDIRGARPEPRFGSVVRRAANVSLGVLLAWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVILQGTASSNASAPDAMWEDYEFKCKPGDPSRRPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLASDAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPGGRHAAEGKWWVRKRIGAYFPPLSLEELRPYFRDRGWPLPGPL

Q96S06-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 9 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
H3BUN8H3BUN8_HUMANLMF1161
H3BVI4H3BVI4_HUMANLMF1350
H3BSB7H3BSB7_HUMANLMF1168
H3BQC9H3BQC9_HUMANLMF1134
H3BQT4H3BQT4_HUMANLMF1149
H3BP58H3BP58_HUMANLMF1150
H3BN37H3BN37_HUMANLMF1198
B4DFZ0B4DFZ0_HUMANLMF1184
F5H802F5H802_HUMANLMF195

Sequence caution

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

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_0573881-237in isoform 2
Sequence conflict36in Ref. 1; BAB15295 and 3; BAD38655
Sequence conflict93in Ref. 1; BAB14218

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AK022743
EMBL· GenBank· DDBJ
BAB14218.1
EMBL· GenBank· DDBJ
mRNA
AK025955
EMBL· GenBank· DDBJ
BAB15295.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK093050
EMBL· GenBank· DDBJ
BAG52642.1
EMBL· GenBank· DDBJ
mRNA
AE006465
EMBL· GenBank· DDBJ
AAK61259.1
EMBL· GenBank· DDBJ
Genomic DNA
AC009041
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL008727
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL031008
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL031716
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
KF456135
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
KF456139
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
KF456141
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
KF456144
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
Z93041
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471112
EMBL· GenBank· DDBJ
EAW85700.1
EMBL· GenBank· DDBJ
Genomic DNA
AB075873
EMBL· GenBank· DDBJ
BAD38655.1
EMBL· GenBank· DDBJ
mRNA
BC010738
EMBL· GenBank· DDBJ
AAH10738.2
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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