Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96S06 (LMF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lipase maturation factor 1
Alternative name(s):
Transmembrane protein 112
Gene names
Name:LMF1
Synonyms:C16orf26, TMEM112
ORF Names:HMFN1876, JFP11
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length567 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 By similarity.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.6.

Involvement in disease

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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the lipase maturation factor family.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 567567Lipase maturation factor 1
PRO_0000276739

Regions

Topological domain1 – 4949Cytoplasmic Potential
Transmembrane50 – 7223Helical; Potential
Topological domain73 – 12755Lumenal Potential
Transmembrane128 – 15124Helical; Potential
Topological domain152 – 20756Cytoplasmic Potential
Transmembrane208 – 22114Helical; Potential
Topological domain222 – 29271Lumenal Potential
Transmembrane293 – 32129Helical; Potential
Topological domain322 – 36746Cytoplasmic Potential
Transmembrane368 – 38821Helical; Potential
Topological domain389 – 567179Lumenal Potential

Natural variations

Natural variant1641V → A.
Corresponds to variant rs35663121 [ dbSNP | Ensembl ].
VAR_053829
Natural variant2031S → P. Ref.4
Corresponds to variant rs11540337 [ dbSNP | Ensembl ].
VAR_030487
Natural variant3641R → Q.
Corresponds to variant rs35168378 [ dbSNP | Ensembl ].
VAR_053830
Natural variant5621P → R.
Corresponds to variant rs4984948 [ dbSNP | Ensembl ].
VAR_030488

Experimental info

Sequence conflict361G → D in BAB15295. Ref.1
Sequence conflict361G → D in BAD38655. Ref.3
Sequence conflict931N → D in BAB14218. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q96S06 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 6D4C80741D1DD0D5

FASTA56764,873
        10         20         30         40         50         60 
MRPDSPTMAA PAESLRRRKT GYSDPEPESP PAPGRGPAGS PAHLHTGTFW LTRIVLLKAL 

        70         80         90        100        110        120 
AFVYFVAFLV AFHQNKQLIG DRGLLPCRVF LKNFQQYFQD RTSWEVFSYM PTILWLMDWS 

       130        140        150        160        170        180 
DMNSNLDLLA LLGLGISSFV LITGCANMLL MAALWGLYMS LVNVGHVWYS FGWESQLLET 

       190        200        210        220        230        240 
GFLGIFLCPL WTLSRLPQHT PTSRIVLWGF RWLIFRIMLG AGLIKIRGDR CWRDLTCMDF 

       250        260        270        280        290        300 
HYETQPMPNP VAYYLHHSPW WFHRFETLSN HFIELLVPFF LFLGRRACII HGVLQILFQA 

       310        320        330        340        350        360 
VLIVSGNLSF LNWLTMVPSL ACFDDATLGF LFPSGPGSLK DRVLQMQRDI RGARPEPRFG 

       370        380        390        400        410        420 
SVVRRAANVS LGVLLAWLSV PVVLNLLSSR QVMNTHFNSL HIVNTYGAFG SITKERAEVI 

       430        440        450        460        470        480 
LQGTASSNAS APDAMWEDYE FKCKPGDPSR RPCLISPYHY RLDWLMWFAA FQTYEHNDWI 

       490        500        510        520        530        540 
IHLAGKLLAS DAEALSLLAH NPFAGRPPPR WVRGEHYRYK FSRPGGRHAA EGKWWVRKRI 

       550        560 
GAYFPPLSLE ELRPYFRDRG WPLPGPL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia."
Peterfy M., Ben-Zeev O., Mao H.Z., Weissglas-Volkov D., Aouizerat B.E., Pullinger C.R., Frost P.H., Kane J.P., Malloy M.J., Reue K., Pajukanta P., Doolittle M.H.
Nat. Genet. 39:1483-1487(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS45373.1.
RefSeqNP_073610.2. NM_022773.2.
XP_006720991.1. XM_006720928.1.
UniGeneHs.71912.

3D structure databases

ProteinModelPortalQ96S06.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122298. 4 interactions.
STRING9606.ENSP00000262301.

PTM databases

PhosphoSiteQ96S06.

Polymorphism databases

DMDM74717262.

Proteomic databases

MaxQBQ96S06.
PaxDbQ96S06.
PRIDEQ96S06.

Protocols and materials databases

DNASU64788.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262301; ENSP00000262301; ENSG00000103227.
GeneID64788.
KEGGhsa:64788.
UCSCuc002ckk.2. human.

Organism-specific databases

CTD64788.
GeneCardsGC16M000903.
HGNCHGNC:14154. LMF1.
HPAHPA018147.
MIM246650. phenotype.
611761. gene.
neXtProtNX_Q96S06.
Orphanet411. Hyperlipoproteinemia type 1.
PharmGKBPA25540.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG81106.
HOGENOMHOG000242315.
HOVERGENHBG101974.
InParanoidQ96S06.
OMAQIWYSFG.
OrthoDBEOG7B31MK.
PhylomeDBQ96S06.
TreeFamTF314339.

Gene expression databases

ArrayExpressQ96S06.
BgeeQ96S06.
CleanExHS_LMF1.
GenevestigatorQ96S06.

Family and domain databases

InterProIPR009613. LMF.
[Graphical view]
PfamPF06762. LMF1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLMF1. human.
GeneWikiTMEM112.
GenomeRNAi64788.
NextBio66846.
PROQ96S06.
SOURCESearch...

Entry information

Entry nameLMF1_HUMAN
AccessionPrimary (citable) accession number: Q96S06
Secondary accession number(s): Q68CJ3 expand/collapse secondary AC list , Q96FJ4, Q9H6G4, Q9H9K7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 76 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM