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Aliases for LDAH Gene

Aliases for LDAH Gene

  • Lipid Droplet Associated Hydrolase 2 3 5
  • Lipid Droplet-Associated Serine Hydrolase 3 4
  • C2orf43 3 4
  • HLDAH 3 4
  • Chromosome 2 Open Reading Frame 43 2
  • Lipid Droplet-Associated Hydrolase 3
  • UPF0554 Protein C2orf43 3
  • EC 3.1.1.- 4

External Ids for LDAH Gene

Previous HGNC Symbols for LDAH Gene

  • C2orf43

Summaries for LDAH Gene

GeneCards Summary for LDAH Gene

LDAH (Lipid Droplet Associated Hydrolase) is a Protein Coding gene. Diseases associated with LDAH include Defective Apolipoprotein B-100.

UniProtKB/Swiss-Prot for LDAH Gene

  • Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages.

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

Genomics for LDAH Gene

Regulatory Elements for LDAH Gene

Enhancers for LDAH 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around LDAH on UCSC Golden Path with GeneCards custom track

Promoters for LDAH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LDAH on UCSC Golden Path with GeneCards custom track

Genomic Location for LDAH Gene

Chromosome:
2
Start:
20,684,014 bp from pter
End:
20,823,137 bp from pter
Size:
139,124 bases
Orientation:
Minus strand

Genomic View for LDAH Gene

Genes around LDAH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LDAH Gene

Proteins for LDAH Gene

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

    Protein Symbol:
    Q9H6V9-LDAH_HUMAN
    Recommended name:
    Lipid droplet-associated hydrolase
    Protein Accession:
    Q9H6V9
    Secondary Accessions:
    • B7ZA47
    • B7ZAJ5
    • D6W530
    • E7ESN0
    • Q53T37
    • Q53T58

    Protein attributes for LDAH Gene

    Size:
    325 amino acids
    Molecular mass:
    37319 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LDAH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LDAH Gene

Post-translational modifications for LDAH Gene

  • Ubiquitination at Lys 55
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LDAH Gene

Domains & Families for LDAH Gene

Protein Domains for LDAH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LDAH Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6V9

UniProtKB/Swiss-Prot:

LDAH_HUMAN :
  • Belongs to the AB hydrolase superfamily. LDAH family.
Family:
  • Belongs to the AB hydrolase superfamily. LDAH family.
genes like me logo Genes that share domains with LDAH: view

No data available for Gene Families for LDAH Gene

Function for LDAH Gene

Molecular function for LDAH Gene

UniProtKB/Swiss-Prot Function:
Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages.

Enzyme Numbers (IUBMB) for LDAH Gene

Gene Ontology (GO) - Molecular Function for LDAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016298 lipase activity ISS --
genes like me logo Genes that share ontologies with LDAH: view
genes like me logo Genes that share phenotypes with LDAH: view

Animal Models for LDAH Gene

MGI Knock Outs for LDAH:
  • Ldah tm1b(EUCOMM)Wtsi

Animal Model Products

miRNA for LDAH Gene

miRTarBase miRNAs that target LDAH

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LDAH Gene

Localization for LDAH Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDAH Gene

Lipid droplet. Endoplasmic reticulum. Note=Localizes to the endoplasmic reticulum in absence of lipid droplets and translocates to lipid droplets upon lipid storage induction. {ECO:0000250 UniProtKB:Q8BVA5}.

Gene Ontology (GO) - Cellular Components for LDAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005811 lipid particle ISS --
genes like me logo Genes that share ontologies with LDAH: view

No data available for Subcellular locations from COMPARTMENTS for LDAH Gene

Pathways & Interactions for LDAH Gene

SuperPathways for LDAH Gene

No Data Available

Interacting Proteins for LDAH Gene

Gene Ontology (GO) - Biological Process for LDAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016042 lipid catabolic process IEA --
GO:0019915 lipid storage IBA --
genes like me logo Genes that share ontologies with LDAH: view

No data available for Pathways by source and SIGNOR curated interactions for LDAH Gene

Drugs & Compounds for LDAH Gene

No Compound Related Data Available

Transcripts for LDAH Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

Relevant External Links for LDAH Gene

GeneLoc Exon Structure for
LDAH
ECgene alternative splicing isoforms for
LDAH

Expression for LDAH Gene

mRNA expression in normal human tissues for LDAH Gene

Protein differential expression in normal tissues from HIPED for LDAH Gene

This gene is overexpressed in Adrenal (10.3) and Bone (8.0).

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



Protein tissue co-expression partners for LDAH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LDAH Gene:

LDAH

mRNA Expression by UniProt/SwissProt for LDAH Gene:

Q9H6V9-LDAH_HUMAN
Tissue specificity: Present in macrophage-rich areas in atherosclerotic lesionsv(at protein level).
genes like me logo Genes that share expression patterns with LDAH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LDAH Gene

Orthologs for LDAH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LDAH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2AH2orf43 34
  • 99.38 (n)
  • 99.38 (a)
C2orf43 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1311648 34
  • 76.44 (n)
  • 66.05 (a)
mouse
(Mus musculus)
Mammalia Ldah 16
1110057K04Rik 35
  • 66 (a)
OneToOne
1110057K04Rik 34
  • 76.56 (n)
  • 67.81 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf43 35
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2orf43 35
  • 81 (a)
OneToOne
C17H2orf43 34
  • 85.03 (n)
  • 80.62 (a)
cow
(Bos Taurus)
Mammalia C2ORF43 35
  • 79 (a)
OneToOne
C11H2orf43 34
  • 88.78 (n)
  • 82.18 (a)
chicken
(Gallus gallus)
Aves C3H2ORF43 34
  • 61.27 (n)
  • 54.52 (a)
C3H2ORF43 35
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf43 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf43 34
  • 59.96 (n)
  • 52.6 (a)
zebrafish
(Danio rerio)
Actinopterygii C17H2orf43 35
  • 40 (a)
OneToOne
zgc:195062 34
  • 56.39 (n)
  • 48.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9186 34
  • 46.83 (n)
  • 35.71 (a)
CG9186 35
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004435 34
  • 48.51 (n)
  • 33.45 (a)
worm
(Caenorhabditis elegans)
Secernentea F11C1.4 35
  • 24 (a)
OneToMany
F26A3.1 35
  • 26 (a)
OneToMany
F26A3.1 34
  • 43.54 (n)
  • 32.17 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G11620 34
  • 43.25 (n)
  • 26.88 (a)
rice
(Oryza sativa)
Liliopsida Os01g0958800 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for LDAH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LDAH Gene

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

Paralogs for LDAH Gene

No data available for Paralogs for LDAH Gene

Variants for LDAH Gene

Sequence variations from dbSNP and Humsavar for LDAH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1098151 -- 20,819,870(+) ccatc(A/G)tctca intron-variant
rs1098152 -- 20,820,030(+) gagaa(C/T)aaaat intron-variant
rs1098153 -- 20,820,246(+) cttca(C/T)ggaat intron-variant
rs1098154 -- 20,820,643(+) gttag(A/T)cctaa intron-variant
rs1098155 -- 20,783,900(+) tagag(A/T)tggag intron-variant

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

Variant ID Type Subtype PubMed ID
esv2030538 CNV deletion 18987734
esv2662336 CNV deletion 23128226
esv2719781 CNV deletion 23290073
esv2719782 CNV deletion 23290073
esv3553444 CNV deletion 23714750
esv3589999 CNV loss 21293372
esv3891625 CNV loss 25118596
nsv1116529 OTHER inversion 24896259
nsv477363 CNV novel sequence insertion 20440878

Variation tolerance for LDAH Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LDAH Gene

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

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

Disorders for LDAH Gene

MalaCards: The human disease database

(1) MalaCards diseases for LDAH Gene - From: GeneCards

Disorder Aliases PubMed IDs
defective apolipoprotein b-100
- elite association - COSMIC cancer census association via MalaCards
Search LDAH in MalaCards View complete list of genes associated with diseases

Relevant External Links for LDAH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LDAH
genes like me logo Genes that share disorders with LDAH: view

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

Publications for LDAH Gene

  1. Novel lipid droplet-associated serine hydrolase regulates macrophage cholesterol mobilization. (PMID: 24357060) Goo Y.H. … Paul A. (Arterioscler. Thromb. Vasc. Biol. 2014) 2 3 4 65
  2. Roles and origins of leukocyte lipid bodies: proteomic and ultrastructural studies. (PMID: 17135363) Wan H.C. … Weller P.F. (FASEB J. 2007) 2 3 4 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 65
  5. Replication and fine mapping for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in the Chinese population. (PMID: 22662242) Long Q.Z. … Liu X.G. (PLoS ONE 2012) 3 65

Products for LDAH Gene

Sources for LDAH Gene

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