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Aliases for LAPTM5 Gene

Aliases for LAPTM5 Gene

  • Lysosomal Protein Transmembrane 5 2 3 5
  • Lysosomal-Associated Multitransmembrane Protein 5 3 4
  • Lysosomal Multispanning Membrane Protein 5 2 3
  • Retinoic Acid-Inducible E3 Protein 3 4
  • Lysosomal Associated Multispanning Membrane Protein 5 3
  • Lysosomal-Associated Transmembrane Protein 5 3
  • CD40-Ligand-Activated Specific Transcripts 3
  • Human Retinoic Acid-Inducible E3 Protein 3
  • KIAA0085 4
  • CLAST6 3

External Ids for LAPTM5 Gene

Previous GeneCards Identifiers for LAPTM5 Gene

  • GC01M030999
  • GC01M030189
  • GC01M030631
  • GC01M030707
  • GC01M030874
  • GC01M031205
  • GC01M029311

Summaries for LAPTM5 Gene

Entrez Gene Summary for LAPTM5 Gene

  • This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]

GeneCards Summary for LAPTM5 Gene

LAPTM5 (Lysosomal Protein Transmembrane 5) is a Protein Coding gene. Diseases associated with LAPTM5 include Charcot-Marie-Tooth Disease, Dominant Intermediate C and Charcot-Marie-Tooth Disease Intermediate Type. Among its related pathways are Lysosome.

UniProtKB/Swiss-Prot for LAPTM5 Gene

  • May have a special functional role during embryogenesis and in adult hematopoietic cells.

Additional gene information for LAPTM5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAPTM5 Gene

Genomics for LAPTM5 Gene

GeneHancer (GH) Regulatory Elements for LAPTM5 Gene

Promoters and enhancers for LAPTM5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I030737 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.6 +6.6 6568 28 HDGF PKNOX1 SMAD1 ARNT IRF4 YY1 ZNF766 CBX5 ZNF302 ZNF416 LAPTM5 LOC105378620 SNRNP40 ENSG00000229447 MATN1 MATN1-AS1 PUM1 SDC3 GC01P030755 MIR4420
GH01I031062 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.3 -306.6 -306583 4.4 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 MEF2D SSRP1 PUM1 COL16A1 ZCCHC17 ENSG00000229447 LAPTM5 GC01P031057
GH01I030801 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.6 -44.1 -44075 0.9 ATF1 SIN3A GLIS2 CBX5 ZNF213 ARID2 ZNF143 ATF7 YY2 NCOA1 ENSG00000229447 SNRNP40 PUM1 LOC105378626 SDC3 LAPTM5 LOC400748 MATN1 MATN1-AS1 ADGRB2
GH01I030777 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.3 -20.9 -20859 2.9 HDGF PKNOX1 SMAD1 ARNT IRF4 POLR2B ZNF766 CBX5 ZNF213 E2F8 SNRNP40 MATN1-AS1 LAPTM5 SDC3 LOC105378621
GH01I030768 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 9.3 -11.3 -11308 2.3 HDGF PKNOX1 SMAD1 FOXA2 ARNT YBX1 POLR2B ZNF766 CBX5 E2F8 SNRNP40 MATN1-AS1 ENSG00000229447 MATN1 PUM1 LAPTM5 LOC105378621
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LAPTM5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LAPTM5 gene promoter:

Genomic Locations for LAPTM5 Gene

Genomic Locations for LAPTM5 Gene
chr1:30,732,468-30,757,836
(GRCh38/hg38)
Size:
25,369 bases
Orientation:
Minus strand
chr1:31,205,315-31,230,683
(GRCh37/hg19)

Genomic View for LAPTM5 Gene

Genes around LAPTM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAPTM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAPTM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAPTM5 Gene

Proteins for LAPTM5 Gene

  • Protein details for LAPTM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13571-LAPM5_HUMAN
    Recommended name:
    Lysosomal-associated transmembrane protein 5
    Protein Accession:
    Q13571
    Secondary Accessions:
    • Q13240
    • Q14698
    • Q3KP54

    Protein attributes for LAPTM5 Gene

    Size:
    262 amino acids
    Molecular mass:
    29937 Da
    Quaternary structure:
    • Binds to ubiquitin.
    SequenceCaution:
    • Sequence=BAA07643.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LAPTM5 Gene

Post-translational modifications for LAPTM5 Gene

  • Ubiquitination at posLast=233233 and isoforms=248

Other Protein References for LAPTM5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAPTM5 Gene

Domains & Families for LAPTM5 Gene

Gene Families for LAPTM5 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for LAPTM5 Gene

Graphical View of Domain Structure for InterPro Entry

Q13571

UniProtKB/Swiss-Prot:

LAPM5_HUMAN :
  • Belongs to the LAPTM4/LAPTM5 transporter family.
Family:
  • Belongs to the LAPTM4/LAPTM5 transporter family.
genes like me logo Genes that share domains with LAPTM5: view

Function for LAPTM5 Gene

Molecular function for LAPTM5 Gene

UniProtKB/Swiss-Prot Function:
May have a special functional role during embryogenesis and in adult hematopoietic cells.
UniProtKB/Swiss-Prot Induction:
By retinoic acid.

Phenotypes From GWAS Catalog for LAPTM5 Gene

Gene Ontology (GO) - Molecular Function for LAPTM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21224396
genes like me logo Genes that share ontologies with LAPTM5: view
genes like me logo Genes that share phenotypes with LAPTM5: view

Animal Models for LAPTM5 Gene

MGI Knock Outs for LAPTM5:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAPTM5 Gene

Localization for LAPTM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAPTM5 Gene

Lysosome membrane; Multi-pass membrane protein.

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 LAPTM5 gene
Compartment Confidence
plasma membrane 5
lysosome 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LAPTM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS 8661146
GO:0005765 lysosomal membrane IEA --
GO:0005887 integral component of plasma membrane TAS 8661146
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LAPTM5: view

Pathways & Interactions for LAPTM5 Gene

SuperPathways for LAPTM5 Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with LAPTM5: view

Pathways by source for LAPTM5 Gene

1 KEGG pathway for LAPTM5 Gene

Gene Ontology (GO) - Biological Process for LAPTM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with LAPTM5: view

No data available for SIGNOR curated interactions for LAPTM5 Gene

Drugs & Compounds for LAPTM5 Gene

No Compound Related Data Available

Transcripts for LAPTM5 Gene

mRNA/cDNA for LAPTM5 Gene

Unigene Clusters for LAPTM5 Gene

Lysosomal protein transmembrane 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAPTM5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d
SP1: - - -
SP2: - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for LAPTM5 Gene

GeneLoc Exon Structure for
LAPTM5
ECgene alternative splicing isoforms for
LAPTM5

Expression for LAPTM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAPTM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAPTM5 Gene

This gene is overexpressed in Whole Blood (x26.0).

Protein differential expression in normal tissues from HIPED for LAPTM5 Gene

This gene is overexpressed in Pancreas (58.3) and Peripheral blood mononuclear cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LAPTM5 Gene



Protein tissue co-expression partners for LAPTM5 Gene

NURSA nuclear receptor signaling pathways regulating expression of LAPTM5 Gene:

LAPTM5

SOURCE GeneReport for Unigene cluster for LAPTM5 Gene:

Hs.371021

mRNA Expression by UniProt/SwissProt for LAPTM5 Gene:

Q13571-LAPM5_HUMAN
Tissue specificity: Preferentially expressed in adult hematopoietic tissues. High levels in lymphoid and myeloid tissues. Highly expressed in peripheral blood leukocytes, thymus, spleen and lung, followed by placenta, liver and kidney.

Evidence on tissue expression from TISSUES for LAPTM5 Gene

  • Bone marrow(4.5)
  • Spleen(4.5)
  • Blood(2.9)
  • Lymph node(2.5)
  • Intestine(2.4)
  • Lung(2.4)
  • Nervous system(2.2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with LAPTM5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAPTM5 Gene

Orthologs for LAPTM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAPTM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAPTM5 33 34
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia LAPTM5 33 34
  • 88.68 (n)
cow
(Bos Taurus)
Mammalia LAPTM5 33 34
  • 88.42 (n)
mouse
(Mus musculus)
Mammalia Laptm5 33 16 34
  • 80.59 (n)
rat
(Rattus norvegicus)
Mammalia Laptm5 33
  • 80.2 (n)
oppossum
(Monodelphis domestica)
Mammalia LAPTM5 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAPTM5 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAPTM5 33 34
  • 64.63 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia laptm5 33
  • 51.06 (n)
Species where no ortholog for LAPTM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for LAPTM5 Gene

ENSEMBL:
Gene Tree for LAPTM5 (if available)
TreeFam:
Gene Tree for LAPTM5 (if available)

Paralogs for LAPTM5 Gene

No data available for Paralogs for LAPTM5 Gene

Variants for LAPTM5 Gene

Sequence variations from dbSNP and Humsavar for LAPTM5 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000101927 -- 30,737,240(-) C/A intron_variant
rs1000112754 -- 30,745,735(-) C/T intron_variant
rs1000351640 -- 30,742,023(-) G/C intron_variant
rs1000396071 -- 30,747,418(-) C/A intron_variant
rs1000413756 -- 30,746,788(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LAPTM5 Gene

Variant ID Type Subtype PubMed ID
dgv145n100 CNV gain 25217958
esv3375939 CNV duplication 20981092
nsv460995 CNV gain 19166990
nsv509124 CNV insertion 20534489
nsv512731 CNV insertion 21212237
nsv545947 CNV gain 21841781

Variation tolerance for LAPTM5 Gene

Residual Variation Intolerance Score: 78.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAPTM5 Gene

Human Gene Mutation Database (HGMD)
LAPTM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAPTM5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAPTM5 Gene

Disorders for LAPTM5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LAPTM5 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, dominant intermediate c
  • cmtdic
charcot-marie-tooth disease intermediate type
  • charcot-marie-tooth disease dominant intermediate
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LAPTM5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LAPTM5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAPTM5 Gene

Publications for LAPTM5 Gene

  1. LAPTM5: a novel lysosomal-associated multispanning membrane protein preferentially expressed in hematopoietic cells. (PMID: 8661146) Adra CN … Lim B (Genomics 1996) 2 3 4 58
  2. Lysosomal-associated protein multispanning transmembrane 5 gene (LAPTM5) is associated with spontaneous regression of neuroblastomas. (PMID: 19787053) Inoue J … Inazawa J (PloS one 2009) 3 22 58
  3. Inactivation of the E3/LAPTm5 gene by chromosomal rearrangement and DNA methylation in human multiple myeloma. (PMID: 12886255) Hayami Y … Ueda R (Leukemia 2003) 3 22 58
  4. Stage-specific expression of Clast6/E3/LAPTM5 during B cell differentiation: elevated expression in human B lymphomas. (PMID: 12527926) Seimiya M … Tagawa M (International journal of oncology 2003) 2 3 58
  5. 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) 3 4 58

Products for LAPTM5 Gene

Sources for LAPTM5 Gene

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