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] See more...

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
  • Lysosomal-Associated Transmembrane Protein 4A 3 4
  • LAPTM4 3 4
  • MBNT 3 4
  • 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 and Myofascial Pain Syndrome. Among its related pathways are Lysosome. An important paralog of this gene is LAPTM4B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for LAPTM4A Gene

Genomics for LAPTM4A Gene

GeneHancer (GH) Regulatory Elements for LAPTM4A Gene

Promoters and enhancers for LAPTM4A Gene
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAPTM4A

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

Genomic Locations for LAPTM4A Gene

Genomic Locations for LAPTM4A Gene
chr2:20,032,650-20,052,028
(GRCh38/hg38)
Size:
19,379 bases
Orientation:
Minus strand
chr2:20,232,411-20,251,789
(GRCh37/hg19)
Size:
19,379 bases
Orientation:
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:
    Q15012-LAP4A_HUMAN
    Recommended name:
    Lysosomal-associated transmembrane protein 4A
    Protein Accession:
    Q15012
    Secondary Accessions:
    • Q6UW22

    Protein attributes for LAPTM4A Gene

    Size:
    233 amino acids
    Molecular mass:
    26801 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89387.1; Type=Frameshift; 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 Lys7 and Lys224
  • 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

Blocks:
  • Golgi 4-transmembrane spanning transporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAPTM4A Gene

GenScript: Design optimal peptide antigens:
  • Golgi 4-transmembrane-spanning transporter MTP (LAP4A_HUMAN)
  • Lysosomal-associated protein transmembrane 4 alpha, isoform CRA_b (Q6IBP4_HUMAN)
  • Lysosomal protein transmembrane 4 alpha (Q9BTU8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15012

UniProtKB/Swiss-Prot:

LAP4A_HUMAN :
  • The C-terminal domain is necessary for retention within intracellular membranes.
  • Belongs to the LAPTM4/LAPTM5 transporter family.
Domain:
  • The C-terminal domain is necessary for retention within intracellular membranes.
Family:
  • 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

CRISPR Products

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

COMPARTMENTS
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
endosome 5
lysosome 5
golgi apparatus 5
plasma membrane 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

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 IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LAPTM4A: view

Pathways & Interactions for LAPTM4A Gene

PathCards logo

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

None

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 :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
SP1:
SP2:
SP3: -
SP4: - - - -
SP5: -

Relevant External Links for LAPTM4A Gene

GeneLoc Exon Structure for
LAPTM4A

Expression for LAPTM4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAPTM4A

SOURCE GeneReport for Unigene cluster for LAPTM4A Gene:

Hs.467807

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
chimpanzee
(Pan troglodytes)
Mammalia LAPTM4A 31 30
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LAPTM4A 31 30
  • 93.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Laptm4a 30
  • 93.06 (n)
mouse
(Mus musculus)
Mammalia Laptm4a 17 31 30
  • 92.31 (n)
dog
(Canis familiaris)
Mammalia LAPTM4A 31 30
  • 91.86 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAPTM4A 31
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAPTM4A 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAPTM4A 31 30
  • 81.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAPTM4A 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia laptm4a 30
  • 74.35 (n)
Str.6389 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.5748 30
zebrafish
(Danio rerio)
Actinopterygii laptm4a 31 30
  • 73.55 (n)
OneToOne
wufb57c07 30
fruit fly
(Drosophila melanogaster)
Insecta CG14767 31 30
  • 44.01 (n)
OneToMany
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

ENSEMBL:
Gene Tree for LAPTM4A (if available)
TreeFam:
Gene Tree for LAPTM4A (if available)
Aminode:
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:

  • LAP4A_HUMAN
  • Q4ZG00_HUMAN
  • Q53QZ6_HUMAN
  • Q6IBP4_HUMAN
  • Q9BTU8_HUMAN
genes like me logo Genes that share paralogs with LAPTM4A: view

Variants for LAPTM4A Gene

Additional dbSNP identifiers (rs#s) for LAPTM4A Gene

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
LAPTM4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAPTM4A Gene

Disorders for LAPTM4A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
shoulder impingement syndrome
  • impingement syndrome of shoulder region
myofascial pain syndrome
  • fibromyalgia
facial neuralgia
petrositis
  • acute petrositis
polyradiculopathy
- 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 23 54
  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 54
  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 41 54
  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 54
  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 54

Products for LAPTM4A Gene

Sources for LAPTM4A Gene