U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 64788, updated on 17-Jun-2024

    Summary

    Official Symbol
    LMF1provided by HGNC
    Official Full Name
    lipase maturation factor 1provided by HGNC
    Primary source
    HGNC:HGNC:14154
    See related
    Ensembl:ENSG00000103227 MIM:611761; AllianceGenome:HGNC:14154
    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
    Involved in triglyceride metabolic process. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in familial lipase maturation factor 1 deficiency. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LMF1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (853634..981613, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (860524..992407, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (903634..1031613, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:836847-837654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:844412-845141 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:850423-850972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:850973-851522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:851523-852072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:852890-853434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:853979-854522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10215 Neighboring gene RNA pseudouridine synthase domain containing 1 Neighboring gene chromosome transmission fidelity factor 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:867140-867640 Neighboring gene G protein subunit gamma 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:890022-890522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:935837-936415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:936416-936993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:940581-941424 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:946091-946310 Neighboring gene peptidyl-prolyl cis-trans isomerase CYP95-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:951356-952074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:952075-952792 Neighboring gene uncharacterized LOC107984876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:966023-966972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:978795-979378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:979379-979960 Neighboring gene LMF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:997219-998196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1009984-1010484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1019189-1020180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1022163-1023153 Neighboring gene uncharacterized LOC124903620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1038856-1039356 Neighboring gene cytoplasmic endogenous regulator of oxidative phosphorylation 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1051902-1052558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1059983-1060602 Neighboring gene SRY-box transcription factor 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1064356-1064557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1074897-1075411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1075412-1075925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1087280-1087789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1097469-1098084 Neighboring gene Sharpr-MPRA regulatory region 13654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1113181-1113680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1119782-1120538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1121507-1122248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1128485-1129149 Neighboring gene SSTR5 antisense RNA 1 Neighboring gene somatostatin receptor 5

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CEROX1

    Clone Names

    • FLJ12681, FLJ22302

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    lipase maturation factor 1
    Names
    transmembrane protein 112

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      15632..132982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC009041, AK093050, AK125201, AK225065, CA427159
      Consensus CDS
      CCDS86488.1
      UniProtKB/TrEMBL
      B3KWK2, H3BVI4
      Conserved Domains (1) summary
      pfam06762
      Location:1330
      LMF1; Lipase maturation factor
    2. NM_001352018.2NP_001338947.1  lipase maturation factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
      UniProtKB/TrEMBL
      B3KWK2
      Conserved Domains (1) summary
      pfam06762
      Location:41414
      LMF1; Lipase maturation factor
    3. NM_001352019.2NP_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_001352021.2NP_001338950.1  lipase maturation factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, CA427159, Z93041
      Consensus CDS
      CCDS86488.1
      UniProtKB/TrEMBL
      B3KWK2, H3BVI4
      Related
      ENSP00000458135.1, ENST00000568897.5
      Conserved Domains (1) summary
      pfam06762
      Location:1330
      LMF1; Lipase maturation factor
    6. NM_022773.4NP_073610.2  lipase maturation factor 1 isoform 1

      See identical proteins and their annotated locations for NP_073610.2

      Status: REVIEWED

      Source sequence(s)
      AC009041, AL008727, AL031008, AL031716, Z93041
      Consensus CDS
      CCDS45373.1
      UniProtKB/Swiss-Prot
      B3KS80, Q68CJ3, Q96FJ4, Q96S06, Q9H6G4, Q9H9K7
      Related
      ENSP00000262301.12, ENST00000262301.16
      Conserved Domains (1) summary
      pfam06762
      Location:174547
      LMF1; Lipase maturation factor

    RNA

    1. NR_147885.2 RNA Sequence

      Status: REVIEWED

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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      853634..981613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      860524..992407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.