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LMF1 lipase maturation factor 1 [ Homo sapiens (human) ]

Gene ID: 64788, updated on 12-May-2019

Summary

Official Symbol
LMF1provided by HGNC
Official Full Name
lipase maturation factor 1provided by HGNC
Primary source
HGNC:HGNC:14154
See related
Ensembl:ENSG00000103227 Ensembl:ENSG00000260807 MIM:611761
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JFP11; TMEM112; C16orf26; HMFN1876; TMEM112A
Summary
The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
Expression
Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues See more
Orthologs

Genomic context

See LMF1 in Genome Data Viewer
Location:
16p13.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (853632..981613, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (903634..1031318, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene chromosome transmission fidelity factor 18 Neighboring gene G protein subunit gamma 13 Neighboring gene proline rich 25 Neighboring gene uncharacterized LOC107984876 Neighboring gene LMF1 antisense RNA 1 Neighboring gene uncharacterized LOC107984898 Neighboring gene SRY-box 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lipase deficiency combined
MedGen: C1855498 OMIM: 246650 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
NHGRI GWA Catalog

Pathways from BioSystems

  • Digestion of dietary lipid, organism-specific biosystem (from REACTOME)
    Digestion of dietary lipid, organism-specific biosystemDietary lipids such as long-chain triacylglycerols and cholesterol esters are digested in the stomach and small intestine to yield long-chain fatty acids, monoacylglycerols, glycerol and cholesterol ...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12681, FLJ22302

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
chylomicron remnant clearance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of lipoprotein lipase activity IEA
Inferred from Electronic Annotation
more info
 
protein glycosylation in Golgi IEA
Inferred from Electronic Annotation
more info
 
protein maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
regulation of triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
triglyceride metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
lipase maturation factor 1
Names
transmembrane protein 112

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021286.2 RefSeqGene

    Range
    15617..132982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001352017.1NP_001338946.1  lipase maturation factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009041, AK093050, AK125201, AK225065, CA427159
    Consensus CDS
    CCDS86488.1
    Conserved Domains (1) summary
    pfam06762
    Location:1330
    LMF1; Lipase maturation factor
  2. NM_001352018.1NP_001338947.1  lipase maturation factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
    Conserved Domains (1) summary
    pfam06762
    Location:41414
    LMF1; Lipase maturation factor
  3. NM_001352019.1NP_001338948.1  lipase maturation factor 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
    Conserved Domains (1) summary
    pfam06762
    Location:65438
    LMF1; Lipase maturation factor
  4. NM_001352020.1NP_001338949.1  lipase maturation factor 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
    Conserved Domains (1) summary
    pfam06762
    Location:174465
    LMF1; Lipase maturation factor
  5. NM_001352021.1NP_001338950.1  lipase maturation factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
    Consensus CDS
    CCDS86488.1
    Related
    ENSP00000458135.1, ENST00000568897.5
    Conserved Domains (1) summary
    pfam06762
    Location:1330
    LMF1; Lipase maturation factor
  6. NM_022773.3NP_073610.2  lipase maturation factor 1 isoform 1

    See identical proteins and their annotated locations for NP_073610.2

    Status: REVIEWED

    Source sequence(s)
    AK093050, AK225065, CA427159, DA200865, DC399784
    Consensus CDS
    CCDS45373.1
    UniProtKB/Swiss-Prot
    Q96S06
    Related
    ENSP00000262301.11, ENST00000262301.15
    Conserved Domains (1) summary
    pfam06762
    Location:174547
    LMF1; Lipase maturation factor

RNA

  1. NR_036442.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lies upstream of variant 1 and does not overlap it. This transcript is considered to be a variant of the LMF1 gene since it shares its first exon with that of variant 2. There is no evidence for a protein product from variant 4.
    Source sequence(s)
    AC009041, AK125201, BM017667, CK300754, KF456144
    Related
    ENST00000563863.5
  2. NR_147885.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009041, AL008727, AL031008, AL031716, CA427159, Z93041

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    853632..981613 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023580.1XP_016879069.1  lipase maturation factor 1 isoform X8

    UniProtKB/TrEMBL
    H3BVI4
    Conserved Domains (1) summary
    pfam06762
    Location:1330
    LMF1; Lipase maturation factor
  2. XM_017023578.1XP_016879067.1  lipase maturation factor 1 isoform X7

    Related
    ENSP00000437418.1, ENST00000543238.5
  3. XM_006720929.4XP_006720992.1  lipase maturation factor 1 isoform X5

    Conserved Domains (1) summary
    pfam06762
    Location:41414
    LMF1; Lipase maturation factor
  4. XM_024450397.1XP_024306165.1  lipase maturation factor 1 isoform X8

  5. XM_024450396.1XP_024306164.1  lipase maturation factor 1 isoform X4

    Conserved Domains (1) summary
    pfam06762
    Location:65438
    LMF1; Lipase maturation factor
  6. XM_017023576.1XP_016879065.1  lipase maturation factor 1 isoform X3

  7. XM_011522617.2XP_011520919.1  lipase maturation factor 1 isoform X8

    See identical proteins and their annotated locations for XP_011520919.1

    UniProtKB/TrEMBL
    H3BVI4
    Conserved Domains (1) summary
    pfam06762
    Location:1330
    LMF1; Lipase maturation factor
  8. XM_017023575.2XP_016879064.1  lipase maturation factor 1 isoform X2

  9. XM_011522614.3XP_011520916.1  lipase maturation factor 1 isoform X1

    Conserved Domains (1) summary
    pfam06762
    Location:174472
    LMF1; Lipase maturation factor
  10. XM_011522615.2XP_011520917.1  lipase maturation factor 1 isoform X6

    Conserved Domains (1) summary
    pfam06762
    Location:174243
    LMF1; Lipase maturation factor
  11. XM_011522618.3XP_011520920.1  lipase maturation factor 1 isoform X9

    Conserved Domains (1) summary
    pfam06762
    Location:174299
    LMF1; Lipase maturation factor
  12. XM_017023581.2XP_016879070.1  lipase maturation factor 1 isoform X10

RNA

  1. XR_001751966.2 RNA Sequence

  2. XR_002957835.1 RNA Sequence

  3. XR_429646.4 RNA Sequence

  4. XR_932903.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_033646.1: Suppressed sequence

    Description
    NR_033646.1: This RefSeq was removed because currently there is insufficient support for the transcript.
Support Center