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    LAPTM4B lysosomal protein transmembrane 4 beta [ Homo sapiens (human) ]

    Gene ID: 55353, updated on 5-Mar-2024

    Summary

    Official Symbol
    LAPTM4Bprovided by HGNC
    Official Full Name
    lysosomal protein transmembrane 4 betaprovided by HGNC
    Primary source
    HGNC:HGNC:13646
    See related
    Ensembl:ENSG00000104341 MIM:613296; AllianceGenome:HGNC:13646
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LC27; LAPTM4beta
    Summary
    Enables ceramide binding activity; enzyme binding activity; and phosphatidylinositol bisphosphate binding activity. Involved in several processes, including negative regulation of macromolecule metabolic process; regulation of lysosomal membrane permeability; and regulation of lysosome organization. Located in several cellular components, including endosome; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 97.2), testis (RPKM 52.3) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LAPTM4B in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (97775788..97853013)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (98901267..98978513)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (98788016..98865241)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98656262-98657242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98657243-98658221 Neighboring gene metadherin Neighboring gene MPRA-validated peak7115 silencer Neighboring gene uncharacterized LOC124901986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:98786357-98786856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98787884-98788846 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:98788847-98789808 Neighboring gene NANOG hESC enhancer GRCh37_chr8:98789991-98790612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:98794740-98795248 Neighboring gene TMEM69 pseudogene 1 Neighboring gene SUMO2 pseudogene 18 Neighboring gene ribosomal protein S23 pseudogene 1

    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

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylinositol bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in multivesicular body, internal vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    lysosomal-associated transmembrane protein 4B
    Names
    lysosomal associated protein transmembrane 4 beta
    lysosome-associated transmembrane protein 4-beta

    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.

    mRNA and Protein(s)

    1. NM_018407.6NP_060877.4  lysosomal-associated transmembrane protein 4B

      Status: VALIDATED

      Source sequence(s)
      AI079853, AP002906, AP003357, AY261384
      Consensus CDS
      CCDS6275.2
      Related
      ENSP00000428409.1, ENST00000521545.7
      Conserved Domains (1) summary
      cl04276
      Location:9226
      Mtp; Golgi 4-transmembrane spanning transporter

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      97775788..97853013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      98901267..98978513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)