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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
  • Mtrp 3 4
  • MBNT 3 4
  • Lysosomal-Associated Transmembrane Protein 4A 3
  • Membrane Nucleoside Transporter 3
  • HUMORF13 3
  • KIAA0108 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 Pain Disorder. Among its related pathways are Lysosome and p53 Pathway (RnD). 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.

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

Genomics for LAPTM4A Gene

Regulatory Elements for LAPTM4A Gene

Enhancers for LAPTM4A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F020070 1.2 Ensembl ENCODE 26.9 -20.9 -20880 5.5 PKNOX1 MLX ZFP64 ARID4B SIN3A SLC30A9 FOS SP5 REST PPARG LAPTM4A ENSG00000234378 MATN3 LOC105373463 GC02M020086
GH02F020821 1.2 ENCODE 15.8 -771.3 -771280 3.1 PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 LAPTM4A TTC32 LDAH GC02P020849
GH02F020608 1.6 FANTOM5 Ensembl ENCODE 10.2 -558.5 -558549 3.6 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 FOS ZNF263 SP5 ZHX2 LAPTM4A HS1BP3 SDC1 ENSG00000269976 RPS25P3 GC02M020612
GH02F020112 1 Ensembl ENCODE 15.4 -62.6 -62567 3.8 BCOR ESRRA CHD4 ZMYM3 ZNF384 E2F1 GATA3 CTBP1 RCOR1 NR2F6 LAPTM4A ENSG00000234378 RNU6-961P SDC1 MATN3 GC02P020141
GH02F019774 0.8 Ensembl ENCODE 14.8 +277.1 277100 1.3 OSR2 ZNF263 PBX2 GLIS1 TRIM28 ZNF264 LAPTM4A LINC00954 GC02P019767 CISD1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAPTM4A on UCSC Golden Path with GeneCards custom track

Promoters for LAPTM4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000299766 1028 4401 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for LAPTM4A Gene

Chromosome:
2
Start:
20,032,650 bp from pter
End:
20,052,028 bp from pter
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; 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 Lys 7 and Lys 224
  • 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

Protein Domains for LAPTM4A Gene

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

No data available for Gene Families for LAPTM4A Gene

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.
genes like me logo Genes that share phenotypes with LAPTM4A: view

Animal Models for LAPTM4A Gene

MGI Knock Outs for LAPTM4A:

Animal Model Products

  • Taconic Biosciences Mouse Models for LAPTM4A

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
golgi apparatus 5
plasma membrane 3
cytosol 3
lysosome 1

Gene Ontology (GO) - Cellular Components for LAPTM4A Gene

GO ID Qualified GO term Evidence PubMed IDs
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
2 p53 Pathway (RnD)
genes like me logo Genes that share pathways with LAPTM4A: view

Pathways by source for LAPTM4A Gene

1 KEGG pathway for LAPTM4A Gene
1 R&D Systems pathway for LAPTM4A Gene

Gene Ontology (GO) - Biological Process for LAPTM4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with LAPTM4A: view

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

Unigene Clusters for LAPTM4A Gene

Lysosomal protein transmembrane 4 alpha:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, 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:

LAPTM4A

SOURCE GeneReport for Unigene cluster for LAPTM4A Gene:

Hs.467807
genes like me logo Genes that share expression patterns with LAPTM4A: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia LAPTM4A 34 35
  • 93.56 (n)
rat
(Rattus norvegicus)
Mammalia Laptm4a 34
  • 93.06 (n)
mouse
(Mus musculus)
Mammalia Laptm4a 34 16 35
  • 92.31 (n)
dog
(Canis familiaris)
Mammalia LAPTM4A 34 35
  • 91.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LAPTM4A 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAPTM4A 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAPTM4A 34 35
  • 81.72 (n)
lizard
(Anolis carolinensis)
Reptilia LAPTM4A 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia laptm4a 34
  • 74.35 (n)
Str.6389 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5748 34
zebrafish
(Danio rerio)
Actinopterygii laptm4a 34 35
  • 73.55 (n)
wufb57c07 34
fruit fly
(Drosophila melanogaster)
Insecta CG14767 34 35
  • 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

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

Paralogs for LAPTM4A Gene

Paralogs for LAPTM4A Gene

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

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 Sequence Context AA Info Type
rs1016316 -- 20,035,348(+) GCCTT(C/T)GGAAA intron-variant
rs1016317 -- 20,035,438(+) TAAGT(A/T)CTACA intron-variant
rs1016318 -- 20,035,632(+) ACTTA(A/T)TCAGC intron-variant
rs10201596 -- 20,048,588(+) ACTGA(C/T)AGCGA intron-variant
rs1028051 -- 20,036,156(-) CTGTG(C/T)GGCTC intron-variant

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

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

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)

Relevant External Links for LAPTM4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAPTM4A

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
pain disorder
  • paine syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LAPTM4A

Genetic Association Database (GAD)
LAPTM4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.L. … Cass C.E. (J. Biol. Chem. 1996) 2 3 22 64
  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. … Nomura N. (DNA Res. 1995) 2 3 4 64
  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. (J Affect Disord 2011) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for LAPTM4A Gene

Sources for LAPTM4A Gene

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