Aliases for LRRC47 Gene

Aliases for LRRC47 Gene

  • Leucine Rich Repeat Containing 47 2 3 5
  • Leucine-Rich Repeat-Containing Protein 47 3 4
  • KIAA1185 4

External Ids for LRRC47 Gene

Previous GeneCards Identifiers for LRRC47 Gene

  • GC01M003721
  • GC01M002991
  • GC01M003696

Summaries for LRRC47 Gene

GeneCards Summary for LRRC47 Gene

LRRC47 (Leucine Rich Repeat Containing 47) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phenylalanine-tRNA ligase activity. An important paralog of this gene is FARSB.

Additional gene information for LRRC47 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC47 Gene

Genomics for LRRC47 Gene

GeneHancer (GH) Regulatory Elements for LRRC47 Gene

Promoters and enhancers for LRRC47 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 LRRC47 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC47

Top Transcription factor binding sites by QIAGEN in the LRRC47 gene promoter:
  • c-Myb
  • E47
  • GCNF
  • GCNF-1
  • GCNF-2
  • LUN-1
  • MRF-2
  • Nkx6-1
  • STAT1
  • ZID

Genomic Locations for LRRC47 Gene

Genomic Locations for LRRC47 Gene
chr1:3,778,559-3,796,504
(GRCh38/hg38)
Size:
17,946 bases
Orientation:
Minus strand
chr1:3,696,784-3,713,068
(GRCh37/hg19)
Size:
16,285 bases
Orientation:
Minus strand

Genomic View for LRRC47 Gene

Genes around LRRC47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC47 Gene

Proteins for LRRC47 Gene

  • Protein details for LRRC47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1G4-LRC47_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 47
    Protein Accession:
    Q8N1G4
    Secondary Accessions:
    • Q9ULN5

    Protein attributes for LRRC47 Gene

    Size:
    583 amino acids
    Molecular mass:
    63473 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LRRC47 Gene

Post-translational modifications for LRRC47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRC47 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC47 Gene

Domains & Families for LRRC47 Gene

Gene Families for LRRC47 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for LRRC47 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 47 (LRC47_HUMAN)
genes like me logo Genes that share domains with LRRC47: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LRRC47 Gene

Function for LRRC47 Gene

Phenotypes From GWAS Catalog for LRRC47 Gene

Gene Ontology (GO) - Molecular Function for LRRC47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0004826 contributes_to phenylalanine-tRNA ligase activity IBA 21873635
GO:0005515 protein binding IPI,IEA 22190034
genes like me logo Genes that share ontologies with LRRC47: view
genes like me logo Genes that share phenotypes with LRRC47: view

Animal Model Products

CRISPR Products

miRNA for LRRC47 Gene

miRTarBase miRNAs that target LRRC47

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC47 Gene

Localization for LRRC47 Gene

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 LRRC47 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LRRC47 Gene

Pathways & Interactions for LRRC47 Gene

PathCards logo

SuperPathways for LRRC47 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LRRC47 Gene

Drugs & Compounds for LRRC47 Gene

No Compound Related Data Available

Transcripts for LRRC47 Gene

mRNA/cDNA for LRRC47 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 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 LRRC47 Gene

No ASD Table

Relevant External Links for LRRC47 Gene

GeneLoc Exon Structure for
LRRC47

Expression for LRRC47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC47 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRRC47 Gene



Protein tissue co-expression partners for LRRC47 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC47

SOURCE GeneReport for Unigene cluster for LRRC47 Gene:

Hs.268488

Evidence on tissue expression from TISSUES for LRRC47 Gene

  • Liver(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with LRRC47: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC47 Gene

Orthologs for LRRC47 Gene

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

Orthologs for LRRC47 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC47 31 30
  • 99.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC47 31 30
  • 84.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc47 17 31 30
  • 82.76 (n)
cow
(Bos Taurus)
Mammalia LRRC47 31 30
  • 82.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrc47 30
  • 82.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia LRRC47 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC47 31 30
  • 70.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC47 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc47 30
  • 65.31 (n)
Str.15989 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68895 30
zebrafish
(Danio rerio)
Actinopterygii LRRC47 (2 of 2) 31
  • 62 (a)
OneToMany
lrrc47 31 30
  • 58.17 (n)
OneToMany
wufe50f06 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011472 30
  • 46.74 (n)
worm
(Caenorhabditis elegans)
Secernentea Y54E10A.6 31 30
  • 41.94 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRS1 31
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1586 31
  • 38 (a)
OneToOne
Species where no ortholog for LRRC47 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)

Evolution for LRRC47 Gene

ENSEMBL:
Gene Tree for LRRC47 (if available)
TreeFam:
Gene Tree for LRRC47 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC47: view image

Paralogs for LRRC47 Gene

Paralogs for LRRC47 Gene

genes like me logo Genes that share paralogs with LRRC47: view

Variants for LRRC47 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC47 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
VAR_035471 A colorectal cancer sample p.Glu193Asp
rs11547614 - p.Pro545Leu
rs11547615 - p.Val581Ile

Additional dbSNP identifiers (rs#s) for LRRC47 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC47 Gene

Variant ID Type Subtype PubMed ID
dgv13n100 CNV gain 25217958
esv3585042 CNV gain 21293372
esv3585049 CNV loss 21293372
esv3585050 CNV gain 21293372
nsv1012423 CNV gain 25217958
nsv830314 CNV gain+loss 17160897
nsv830425 CNV gain 17160897
nsv951959 CNV deletion 24416366

Variation tolerance for LRRC47 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC47 Gene

Disorders for LRRC47 Gene

Additional Disease Information for LRRC47

No disorders were found for LRRC47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC47 Gene

Publications for LRRC47 Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  3. 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
  4. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 54
  5. The Catalytically Inactive Mutation of the Ubiquitin-Conjugating Enzyme CDC34 Affects its Stability and Cell Proliferation. (PMID: 29564676) Liu X … Xu G (The protein journal 2018) 3 54

Products for LRRC47 Gene

Sources for LRRC47 Gene