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

Gene ID: 9741, updated on 22-Aug-2020

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
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

Genomic context

See LAPTM4A in Genome Data Viewer
Location:
2p24.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (20032650..20051628, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (20232411..20251789, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 35 Neighboring gene uncharacterized LOC101928222 Neighboring gene ring finger protein, transmembrane 1 pseudogene 1 Neighboring gene matrilin 3 Neighboring gene LAPTM4A divergent transcript 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0108

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    UniProtKB/TrEMBL
    Q6IBP4
    Related
    ENSP00000175091.4, ENST00000175091.5
    Conserved Domains (1) summary
    TIGR00799
    Location:10221
    mtp; Golgi 4-transmembrane spanning transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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