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Aliases for LAPTM4A Gene

Aliases for LAPTM4A Gene

  • Lysosomal Protein Transmembrane 4 Alpha 2 3 5
  • Lysosomal-Associated Protein Transmembrane 4 Alpha 2 3
  • Golgi 4-Transmembrane-Spanning Transporter MTP 3 4
  • LAPTM4 3 4
  • MBNT 3 4
  • Lysosomal-Associated Transmembrane Protein 4A 3
  • Membrane Nucleoside Transporter 3
  • HUMORF13 3
  • KIAA0108 4
  • Mtrp 3
  • MTRP 4

External Ids for LAPTM4A Gene

Previous HGNC Symbols for LAPTM4A Gene

  • MBNT

Previous GeneCards Identifiers for LAPTM4A Gene

  • GC02M020123
  • GC02M020300
  • GC02M020216
  • GC02M020154
  • GC02M019989
  • GC02M020232

Summaries for LAPTM4A Gene

Entrez Gene Summary for LAPTM4A Gene

  • 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]

GeneCards Summary for LAPTM4A Gene

LAPTM4A (Lysosomal Protein Transmembrane 4 Alpha) is a Protein Coding gene. Diseases associated with LAPTM4A include Shoulder Impingement Syndrome. Among its related pathways are Lysosome. An important paralog of this gene is LAPTM4B.

UniProtKB/Swiss-Prot for LAPTM4A Gene

  • May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment.

Additional gene information for LAPTM4A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAPTM4A Gene

Genomics for LAPTM4A Gene

GeneHancer (GH) Regulatory Elements for LAPTM4A Gene

Promoters and enhancers for LAPTM4A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J020047 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +1.3 1277 5.5 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC LOC105373463 LAPTM4A MATN3 ENSG00000234378 TTC32 PUM2 PIR35445 GC02P020023
GH02J020070 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.9 -20.9 -20879 5.5 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A ZBTB7B SLC30A9 FOS LAPTM4A ENSG00000234378 MATN3 LOC105373463 GC02M020086
GH02J021042 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 20.4 -991.3 -991312 2.6 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 PAF1 SP5 APOB GC02M021043 GC02M021044 LAPTM4A ENSG00000280390
GH02J020205 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 -164.0 -163956 21.3 HDGF PKNOX1 CLOCK FOXA2 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 SDC1 PUM2 RNU7-113P RNU6-961P LAPTM4A ENSG00000228950 RHOB GC02M020197
GH02J020164 Enhancer 1 ENCODE dbSUPER 22.7 -112.6 -112567 0.3 ZSCAN4 ZNF2 ZNF766 IKZF2 RUNX3 MCM3 YY2 CBFB IKZF1 ZNF785 GC02M020159 LAPTM4A TTC32 PUM2 SDC1 WDR35 GC02P020178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAPTM4A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAPTM4A gene promoter:
  • AREB6
  • POU2F1a
  • POU2F1
  • CUTL1
  • MZF-1
  • C/EBPalpha
  • ZIC2
  • Zic1

Genomic Locations for LAPTM4A Gene

Genomic Locations for LAPTM4A Gene
19,379 bases
Minus strand
19,379 bases
Minus strand

Genomic View for LAPTM4A Gene

Genes around LAPTM4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAPTM4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAPTM4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAPTM4A Gene

Proteins for LAPTM4A Gene

  • Protein details for LAPTM4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Lysosomal-associated transmembrane protein 4A
    Protein Accession:
    Secondary Accessions:
    • Q6UW22

    Protein attributes for LAPTM4A Gene

    233 amino acids
    Molecular mass:
    26801 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAQ89387.1; Type=Frameshift; Positions=206; Evidence={ECO:0000305}; Sequence=BAA03522.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LAPTM4A Gene

Post-translational modifications for LAPTM4A Gene

  • Ubiquitination at isoforms=224 and Lys7
  • Modification sites at PhosphoSitePlus

Other Protein References for LAPTM4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAPTM4A Gene

Domains & Families for LAPTM4A Gene

Gene Families for LAPTM4A Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LAPTM4A Gene

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal domain is necessary for retention within intracellular membranes.
  • Belongs to the LAPTM4/LAPTM5 transporter family.
  • The C-terminal domain is necessary for retention within intracellular membranes.
  • Belongs to the LAPTM4/LAPTM5 transporter family.
genes like me logo Genes that share domains with LAPTM4A: view

Function for LAPTM4A Gene

Molecular function for LAPTM4A Gene

UniProtKB/Swiss-Prot Function:
May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment.

Phenotypes From GWAS Catalog for LAPTM4A Gene

Gene Ontology (GO) - Molecular Function for LAPTM4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21224396
genes like me logo Genes that share ontologies with LAPTM4A: view
genes like me logo Genes that share phenotypes with LAPTM4A: view

Animal Models for LAPTM4A Gene

MGI Knock Outs for LAPTM4A:
  • Laptm4a Laptm4a<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for LAPTM4A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAPTM4A Gene

Localization for LAPTM4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAPTM4A Gene

Endomembrane system; Multi-pass membrane protein. Note=May reside in an intracellular membrane-bound compartment. {ECO:0000305}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAPTM4A gene
Compartment Confidence
lysosome 5
golgi apparatus 5
endosome 5
plasma membrane 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAPTM4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 22096579
GO:0005794 Golgi apparatus IDA 10942595
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LAPTM4A: view

Pathways & Interactions for LAPTM4A Gene

SuperPathways for LAPTM4A Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with LAPTM4A: view

Pathways by source for LAPTM4A Gene

1 KEGG pathway for LAPTM4A Gene

Gene Ontology (GO) - Biological Process for LAPTM4A Gene


No data available for SIGNOR curated interactions for LAPTM4A Gene

Drugs & Compounds for LAPTM4A Gene

(1) Additional Compounds for LAPTM4A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAPTM4A: view

Transcripts for LAPTM4A Gene

mRNA/cDNA for LAPTM4A Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1386) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LAPTM4A Gene

Lysosomal protein transmembrane 4 alpha:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAPTM4A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b
SP3: -
SP4: - - - -
SP5: -

Relevant External Links for LAPTM4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LAPTM4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAPTM4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAPTM4A Gene

This gene is overexpressed in Amniocyte (41.3) and Bone (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAPTM4A Gene

Protein tissue co-expression partners for LAPTM4A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAPTM4A Gene:


SOURCE GeneReport for Unigene cluster for LAPTM4A Gene:


Evidence on tissue expression from TISSUES for LAPTM4A Gene

  • Muscle(4.7)
  • Nervous system(4.7)
  • Bone marrow(4.3)
  • Lung(4.2)
  • Skin(3.9)
  • Intestine(3.8)
  • Pancreas(3.6)
  • Eye(3.5)
  • Kidney(3.5)
  • Heart(3)
  • Stomach(3)
  • Liver(2.8)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Thyroid gland(2.2)
  • Blood(2)
  • Bone(2)
genes like me logo Genes that share expression patterns with LAPTM4A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAPTM4A Gene

Orthologs for LAPTM4A Gene

This gene was present in the common ancestor of animals.

Orthologs for LAPTM4A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LAPTM4A 34 33
  • 99.71 (n)
(Bos Taurus)
Mammalia LAPTM4A 34 33
  • 93.56 (n)
(Rattus norvegicus)
Mammalia Laptm4a 33
  • 93.06 (n)
(Mus musculus)
Mammalia Laptm4a 16 34 33
  • 92.31 (n)
(Canis familiaris)
Mammalia LAPTM4A 34 33
  • 91.86 (n)
(Ornithorhynchus anatinus)
Mammalia LAPTM4A 34
  • 91 (a)
(Monodelphis domestica)
Mammalia LAPTM4A 34
  • 83 (a)
(Gallus gallus)
Aves LAPTM4A 34 33
  • 81.72 (n)
(Anolis carolinensis)
Reptilia LAPTM4A 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia laptm4a 33
  • 74.35 (n)
Str.6389 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5748 33
(Danio rerio)
Actinopterygii laptm4a 34 33
  • 73.55 (n)
wufb57c07 33
fruit fly
(Drosophila melanogaster)
Insecta CG14767 34 33
  • 44.01 (n)
Species where no ortholog for LAPTM4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LAPTM4A Gene

Gene Tree for LAPTM4A (if available)
Gene Tree for LAPTM4A (if available)
Evolutionary constrained regions (ECRs) for LAPTM4A: view image

Paralogs for LAPTM4A Gene

Paralogs for LAPTM4A Gene

(2) SIMAP similar genes for LAPTM4A Gene using alignment to 5 proteins:

  • Q4ZG00_HUMAN
  • Q53QZ6_HUMAN
genes like me logo Genes that share paralogs with LAPTM4A: view

Variants for LAPTM4A Gene

Sequence variations from dbSNP and Humsavar for LAPTM4A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000092896 -- 20,045,033(-) C/T intron_variant
rs1000134458 -- 20,041,685(-) C/T intron_variant
rs1000322328 -- 20,040,961(-) T/C coding_sequence_variant, synonymous_variant
rs1000438543 -- 20,041,373(-) A/G intron_variant
rs1000464855 -- 20,032,911(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for LAPTM4A Gene

Variant ID Type Subtype PubMed ID
esv2719776 CNV deletion 23290073
esv29979 CNV loss 17803354

Variation tolerance for LAPTM4A Gene

Residual Variation Intolerance Score: 60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAPTM4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAPTM4A Gene

Disorders for LAPTM4A Gene

MalaCards: The human disease database

(1) MalaCards diseases for LAPTM4A Gene - From: DISEASES

Disorder Aliases PubMed IDs
shoulder impingement syndrome
  • impingement syndrome of shoulder region
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LAPTM4A

genes like me logo Genes that share disorders with LAPTM4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAPTM4A Gene

Publications for LAPTM4A Gene

  1. Identification of a novel membrane transporter associated with intracellular membranes by phenotypic complementation in the yeast Saccharomyces cerevisiae. (PMID: 8621662) Hogue DL … Cass CE (The Journal of biological chemistry 1996) 2 3 22 58
  2. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 58
  3. Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples. (PMID: 21621269) Aragam N … Pan Y (Journal of affective disorders 2011) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for LAPTM4A Gene

Sources for LAPTM4A Gene

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