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Aliases for LRRC48 Gene

Aliases for LRRC48 Gene

  • Leucine Rich Repeat Containing 48 2 3

External Ids for LRRC48 Gene

Previous GeneCards Identifiers for LRRC48 Gene

  • GC17P017688
  • GC17P017816

Summaries for LRRC48 Gene

GeneCards Summary for LRRC48 Gene

LRRC48 (Leucine Rich Repeat Containing 48) is a Protein Coding gene. An important paralog of this gene is CNTRL.

Gene Wiki entry for LRRC48 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC48 Gene

Genomics for LRRC48 Gene

Regulatory Elements for LRRC48 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRRC48 Gene

Start:
17,972,813 bp from pter
End:
18,016,889 bp from pter
Size:
44,077 bases
Orientation:
Plus strand

Genomic View for LRRC48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRC48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC48 Gene

Proteins for LRRC48 Gene

  • Protein details for LRRC48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H069-LRC48_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 48
    Protein Accession:
    Q9H069
    Secondary Accessions:
    • A8KAE6
    • Q86SF9
    • Q86W73
    • Q8IWG0

    Protein attributes for LRRC48 Gene

    Size:
    523 amino acids
    Molecular mass:
    61054 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LRRC48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRC48 Gene

Proteomics data for LRRC48 Gene at MOPED

Post-translational modifications for LRRC48 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LRRC48 Gene

Domains for LRRC48 Gene

Protein Domains for LRRC48 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC48 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H069

UniProtKB/Swiss-Prot:

LRC48_HUMAN :
  • Q9H069
Domain:
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRC48: view

No data available for Gene Families for LRRC48 Gene

Function for LRRC48 Gene

Gene Ontology (GO) - Molecular Function for LRRC48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LRRC48: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for LRRC48 Gene

Localization for LRRC48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRC48 Gene COMPARTMENTS Subcellular localization image for LRRC48 gene
Compartment Confidence
cytoskeleton 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LRRC48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with LRRC48: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LRRC48 Gene

Pathways for LRRC48 Gene

SuperPathways for LRRC48 Gene

No Data Available

Interacting Proteins for LRRC48 Gene

Gene Ontology (GO) - Biological Process for LRRC48 Gene

None

No data available for Pathways by source for LRRC48 Gene

Transcripts for LRRC48 Gene

Unigene Clusters for LRRC48 Gene

Leucine rich repeat containing 48:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRC48

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC48 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - - -
SP5:
SP6:

Relevant External Links for LRRC48 Gene

GeneLoc Exon Structure for
LRRC48
ECgene alternative splicing isoforms for
LRRC48

Expression for LRRC48 Gene

mRNA expression in normal human tissues for LRRC48 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC48 Gene

This gene is overexpressed in Pituitary (4.8) and Testis (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LRRC48 Gene

SOURCE GeneReport for Unigene cluster for LRRC48 Gene Hs.579264

genes like me logo Genes that share expressions with LRRC48: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for LRRC48 Gene

Orthologs for LRRC48 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LRRC48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC48 35
  • 99.04 (n)
  • 98.09 (a)
LRRC48 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC48 35
  • 85.92 (n)
  • 85.85 (a)
LRRC48 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC48 35
  • 85.79 (n)
  • 82.22 (a)
LRRC48 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc48 35
  • 83.43 (n)
  • 80.88 (a)
Lrrc48 16
Lrrc48 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRRC48 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC48 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc48 35
  • 82.92 (n)
  • 80.5 (a)
chicken
(Gallus gallus)
Aves LRRC48 35
  • 62.94 (n)
  • 56.07 (a)
LRRC48 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC48 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc48 35
  • 64.41 (n)
  • 58.99 (a)
zebrafish
(Danio rerio)
Actinopterygii lrrc48 35
  • 59.21 (n)
  • 50.7 (a)
lrrc48 36
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010129 35
  • 45.69 (n)
  • 35.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ppr-Y 35
  • 46 (n)
  • 36.8 (a)
Ppr-Y 36
  • 30 (a)
OneToMany
TbCMF46 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for LRRC48:
  • 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)
  • 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 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 LRRC48 Gene

ENSEMBL:
Gene Tree for LRRC48 (if available)
TreeFam:
Gene Tree for LRRC48 (if available)

Paralogs for LRRC48 Gene

Paralogs for LRRC48 Gene

genes like me logo Genes that share paralogs with LRRC48: view

Variants for LRRC48 Gene

Sequence variations from dbSNP and Humsavar for LRRC48 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs3935505 -- 17,978,706(-) CCCTG(A/C)TTGGG intron-variant
rs3935506 -- 17,978,745(-) TGCCC(C/T)TTTAC intron-variant
rs4072738 -- 17,981,233(-) GTTTT(G/T)CCTGG intron-variant
rs4072739 -- 17,981,346(-) CATCG(C/T)CATCA intron-variant
rs4072927 -- 17,989,715(-) CCTTA(A/G)AGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC48 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv907766 CNV Loss 21882294
nsv510701 CNV Loss 20534489
esv2668379 CNV Deletion 23128226

Relevant External Links for LRRC48 Gene

HapMap Linkage Disequilibrium report
LRRC48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC48 Gene

Disorders for LRRC48 Gene

Relevant External Links for LRRC48

Genetic Association Database (GAD)
LRRC48
Human Genome Epidemiology (HuGE) Navigator
LRRC48
genes like me logo Genes that share disorders with LRRC48: view

No data available for UniProtKB/Swiss-Prot for LRRC48 Gene

Publications for LRRC48 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  2. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W. … Lupski J.R. (Genome Res. 2002) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for LRRC48 Gene

Sources for LRRC48 Gene

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