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Aliases for LRGUK Gene

Aliases for LRGUK Gene

  • Leucine-Rich Repeats And Guanylate Kinase Domain Containing 2 3 5
  • CFAP246 3

External Ids for LRGUK Gene

Previous GeneCards Identifiers for LRGUK Gene

  • GC07P133463
  • GC07P133812
  • GC07P128113

Summaries for LRGUK Gene

GeneCards Summary for LRGUK Gene

LRGUK (Leucine-Rich Repeats And Guanylate Kinase Domain Containing) is a Protein Coding gene. GO annotations related to this gene include kinase activity. An important paralog of this gene is LRRC23.

UniProtKB/Swiss-Prot for LRGUK Gene

  • Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development.

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

Genomics for LRGUK Gene

Regulatory Elements for LRGUK Gene

Enhancers for LRGUK Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LRGUK on UCSC Golden Path with GeneCards custom track

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

ENSRs around LRGUK on UCSC Golden Path with GeneCards custom track

Genomic Location for LRGUK Gene

Chromosome:
7
Start:
134,127,299 bp from pter
End:
134,264,591 bp from pter
Size:
137,293 bases
Orientation:
Plus strand

Genomic View for LRGUK Gene

Genes around LRGUK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LRGUK Gene

Proteins for LRGUK Gene

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

    Protein Symbol:
    Q96M69-LRGUK_HUMAN
    Recommended name:
    Leucine-rich repeat and guanylate kinase domain-containing protein
    Protein Accession:
    Q96M69
    Secondary Accessions:
    • Q2M3I1

    Protein attributes for LRGUK Gene

    Size:
    825 amino acids
    Molecular mass:
    93618 Da
    Quaternary structure:
    • Interacts with HOOK2.

neXtProt entry for LRGUK Gene

Proteomics data for LRGUK Gene at MOPED

Post-translational modifications for LRGUK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRGUK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRGUK Gene

Domains & Families for LRGUK Gene

Protein Domains for LRGUK Gene

Suggested Antigen Peptide Sequences for LRGUK Gene

Graphical View of Domain Structure for InterPro Entry

Q96M69

UniProtKB/Swiss-Prot:

LRGUK_HUMAN :
  • Contains 1 guanylate kinase-like domain.
  • Contains 9 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 guanylate kinase-like domain.
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 9 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRGUK: view

No data available for Gene Families for LRGUK Gene

Function for LRGUK Gene

Molecular function for LRGUK Gene

UniProtKB/Swiss-Prot Function:
Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development.
genes like me logo Genes that share phenotypes with LRGUK: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRGUK Gene

Localization for LRGUK Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRGUK Gene

Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Localizes to the acrosome-acroplaxome-manchette-tail axis. {ECO:0000250 UniProtKB:Q9D5S7}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRGUK Gene COMPARTMENTS Subcellular localization image for LRGUK gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for LRGUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002177 manchette IEA,ISS --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with LRGUK: view

Pathways & Interactions for LRGUK Gene

SuperPathways for LRGUK Gene

No Data Available

Interacting Proteins for LRGUK Gene

Gene Ontology (GO) - Biological Process for LRGUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035082 axoneme assembly IEA,ISS --
genes like me logo Genes that share ontologies with LRGUK: view

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

Drugs & Compounds for LRGUK Gene

No Compound Related Data Available

Transcripts for LRGUK Gene

mRNA/cDNA for LRGUK Gene

Unigene Clusters for LRGUK Gene

Leucine-rich repeats and guanylate kinase domain containing:
Representative Sequences:

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

No ASD Table

Relevant External Links for LRGUK Gene

GeneLoc Exon Structure for
LRGUK
ECgene alternative splicing isoforms for
LRGUK

Expression for LRGUK Gene

mRNA expression in normal human tissues for LRGUK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x10.8).

Protein differential expression in normal tissues from HIPED for LRGUK Gene

This gene is overexpressed in Prostate (69.0).

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



SOURCE GeneReport for Unigene cluster for LRGUK Gene Hs.149774

genes like me logo Genes that share expression patterns with LRGUK: view

Protein tissue co-expression partners for LRGUK Gene

Primer Products

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

Orthologs for LRGUK Gene

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

Orthologs for LRGUK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRGUK 35
  • 83.17 (n)
  • 74.82 (a)
LRGUK 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRGUK 35
  • 85.14 (n)
  • 79.9 (a)
LRGUK 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrguk 35
  • 78.12 (n)
  • 73.72 (a)
Lrguk 16
Lrguk 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRGUK 35
  • 99.43 (n)
  • 99.15 (a)
LRGUK 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrguk 35
  • 78.57 (n)
  • 73.96 (a)
oppossum
(Monodelphis domestica)
Mammalia LRGUK 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRGUK 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRGUK 35
  • 64.02 (n)
  • 58.08 (a)
lizard
(Anolis carolinensis)
Reptilia LRGUK 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrguk 35
  • 60.65 (n)
  • 56.67 (a)
zebrafish
(Danio rerio)
Actinopterygii lrguk 35
  • 54.49 (n)
  • 49.36 (a)
lrguk 36
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea magu-3 36
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUK1 36
  • 19 (a)
OneToMany
NUD1 38
Species with no ortholog for LRGUK:
  • 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)
  • 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 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)

Evolution for LRGUK Gene

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

Paralogs for LRGUK Gene

Paralogs for LRGUK Gene

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

Variants for LRGUK Gene

Sequence variations from dbSNP and Humsavar for LRGUK Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs17167553 - 134,163,505(+) ATCAT(G/T)ACCTC nc-transcript-variant, reference, missense
rs35149449 - 134,221,917(+) ACCAG(C/T)GGTAA downstream-variant-500B, reference, missense
rs892983 -- 134,167,532(-) GTGTG(G/T)AACCT intron-variant
rs892984 -- 134,167,429(-) AGCCA(C/G)GGCAC intron-variant
rs892985 -- 134,167,190(-) ATCAC(C/T)TTTGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv889216 CNV Gain 21882294
dgv2139e1 CNV Complex 17122850
nsv428186 CNV Gain 18775914
nsv521054 CNV Loss 19592680
nsv5957 CNV Loss 18451855
nsv508483 CNV Loss 20534489
nsv507421 CNV Insertion 20534489
esv259779 OTHER Complex 20981092
nsv831145 CNV Gain 17160897
esv267899 CNV Insertion 20981092
esv2735177 CNV Deletion 23290073
esv2735178 CNV Deletion 23290073
esv2735179 CNV Deletion 23290073
esv2677377 CNV Deletion 23128226

Variation tolerance for LRGUK Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.05; 92.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRGUK Gene

Human Gene Mutation Database (HGMD)
LRGUK

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

Disorders for LRGUK Gene

Relevant External Links for LRGUK

Genetic Association Database (GAD)
LRGUK
Human Genome Epidemiology (HuGE) Navigator
LRGUK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRGUK

No disorders were found for LRGUK Gene.

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

Publications for LRGUK Gene

  1. LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility. (PMID: 25781171) Liu Y. … O'Bryan M.K. (PLoS Genet. 2015) 2 3 67
  2. 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
  3. Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study. (PMID: 18498660) Laramie J.M. … Myers R.H. (BMC Med. Genet. 2008) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3

Products for LRGUK Gene

Sources for LRGUK Gene

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