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    LAPTM4A lysosomal protein transmembrane 4 alpha [ Homo sapiens (human) ]

    Gene ID: 9741, updated on 13-May-2024

    Summary

    Official Symbol
    LAPTM4Aprovided by HGNC
    Official Full Name
    lysosomal protein transmembrane 4 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:6924
    See related
    Ensembl:ENSG00000068697 MIM:618837; AllianceGenome:HGNC:6924
    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
    MBNT; Mtrp; LAPTM4; HUMORF13
    Summary
    This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 245.2), testis (RPKM 209.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See LAPTM4A in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (20032650..20051628, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (20066155..20085173, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20232411..20251389, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20189663-20190166 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene WDR35 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20211533-20212145 Neighboring gene matrilin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15374 Neighboring gene LAPTM4A divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20280320-20280876 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:20280877-20281433 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20291019-20291520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:20291521-20292020 Neighboring gene Sharpr-MPRA regulatory region 8017 Neighboring gene uncharacterized LOC107985807

    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
    Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0108

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus 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 

    General protein information

    Preferred Names
    lysosomal-associated transmembrane protein 4A
    Names
    golgi 4-transmembrane-spanning transporter MTP
    lysosomal-associated protein transmembrane 4 alpha
    membrane nucleoside transporter

    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_014713.5NP_055528.1  lysosomal-associated transmembrane protein 4A

      See identical proteins and their annotated locations for NP_055528.1

      Status: REVIEWED

      Source sequence(s)
      BC093075, CD679337, DR156048
      Consensus CDS
      CCDS1696.1
      UniProtKB/Swiss-Prot
      Q15012, Q6UW22
      UniProtKB/TrEMBL
      D6W522, Q6IBP4, Q9BTU8
      Related
      ENSP00000175091.4, ENST00000175091.5
      Conserved Domains (1) summary
      TIGR00799
      Location:10221
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      20032650..20051628 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      20066155..20085173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)