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Aliases for LRGUK Gene

Aliases for LRGUK Gene

  • Leucine Rich Repeats And Guanylate Kinase Domain Containing 2 3 5
  • Leucine-Rich Repeat And Guanylate Kinase Domain-Containing Protein 3
  • 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 , CIViC 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 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
GH07G134083 0.9 ENCODE 10.9 -43.4 -43394 1.4 ATF1 ARNT TCF12 ZNF766 GATA2 FOS JUNB REST ZNF592 MBD2 LRGUK PIR34775 LOC105375513
GH07G134174 1.2 Ensembl ENCODE 7.4 +47.8 47772 1.1 PKNOX1 ATF1 FEZF1 BRCA1 FOS JUNB REST SMARCA4 STAT3 HMBOX1 LRGUK ENSG00000231098 GC07P134216
GH07G134129 0.8 ENCODE 8.1 +2.9 2907 1.5 ELF3 FOXA2 ATF1 RARA CREM MIXL1 ZHX2 MIER2 NFIC MIER3 LRGUK GC07P134216
GH07G134212 0.8 ENCODE 7.6 +85.8 85778 0.6 GATA2 FOS MIER1 CEBPB ELF4 ZEB2 ELF1 ZNF592 SMARCA4 IKZF1 LRGUK GC07P134216
GH07G133252 1.1 ENCODE 4.7 -873.9 -873930 1.9 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 ST13P7 EXOC4 LRGUK MIR6133
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000218398 102 1200 CREB3L1 WRNIP1 ARID4B SIN3A YBX1 ZNF2 YY1 ETS1 GLIS2 ZNF143

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

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

Suggested Antigen Peptide Sequences for LRGUK Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for LRGUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with LRGUK: view
genes like me logo Genes that share phenotypes with LRGUK: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LRGUK

No data available for Enzyme Numbers (IUBMB) , 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
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 LRGUK gene
Compartment Confidence
cytoskeleton 4
cytosol 4
mitochondrion 3
nucleus 2

Gene Ontology (GO) - Cellular Components for LRGUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle ISS --
GO:0002177 manchette IEA,ISS --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with LRGUK: view

Pathways & Interactions for LRGUK Gene

SuperPathways for LRGUK Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRGUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis ISS --
GO:0016310 phosphorylation IEA --
GO:0030154 cell differentiation IEA --
GO:0035082 axoneme assembly ISS,IEA --
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

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LRGUK Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LRGUK

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for LRGUK Gene

NURSA nuclear receptor signaling pathways regulating expression of LRGUK Gene:

LRGUK

SOURCE GeneReport for Unigene cluster for LRGUK Gene:

Hs.149774

Evidence on tissue expression from TISSUES for LRGUK Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with LRGUK: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia LRGUK 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia LRGUK 34 35
  • 85.14 (n)
cow
(Bos Taurus)
Mammalia LRGUK 34 35
  • 83.17 (n)
rat
(Rattus norvegicus)
Mammalia Lrguk 34
  • 78.57 (n)
mouse
(Mus musculus)
Mammalia Lrguk 34 16 35
  • 78.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRGUK 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRGUK 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRGUK 34
  • 64.02 (n)
lizard
(Anolis carolinensis)
Reptilia LRGUK 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrguk 34
  • 60.65 (n)
zebrafish
(Danio rerio)
Actinopterygii lrguk 34 35
  • 54.49 (n)
worm
(Caenorhabditis elegans)
Secernentea magu-3 35
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUK1 35
  • 19 (a)
OneToMany
NUD1 37
Species where no ortholog for LRGUK 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)
  • 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
rs1000000136 -- 134,259,955(+) TAAAT(A/G)GGATG intron-variant
rs1000031189 -- 134,142,672(+) GGGCT(A/G)ATTAT intron-variant, utr-variant-5-prime
rs1000059334 -- 134,130,547(+) TTTTA(A/C/G)TATTG intron-variant
rs1000088897 -- 134,215,210(+) TAAAA(C/T)ACCTG intron-variant
rs1000103373 -- 134,184,371(+) TTCAT(A/C)CCATT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1963e212 CNV loss 25503493
dgv6633n100 CNV loss 25217958
dgv6634n100 CNV loss 25217958
dgv6635n100 CNV loss 25217958
esv2677377 CNV deletion 23128226
esv2735177 CNV deletion 23290073
esv2735178 CNV deletion 23290073
esv2735179 CNV deletion 23290073
esv2759565 CNV gain 17122850
esv2761131 CNV gain+loss 21179565
esv3302805 CNV tandem duplication 20981092
esv3303620 CNV mobile element insertion 20981092
esv3404505 CNV insertion 20981092
esv3572150 CNV loss 25503493
esv3615082 CNV gain 21293372
esv3615084 CNV gain 21293372
esv3615091 CNV gain 21293372
nsv1020759 CNV gain 25217958
nsv1020795 CNV loss 25217958
nsv1030729 CNV gain 25217958
nsv1142502 CNV tandem duplication 24896259
nsv1161617 CNV duplication 26073780
nsv428186 CNV gain 18775914
nsv474871 CNV novel sequence insertion 20440878
nsv478584 CNV novel sequence insertion 20440878
nsv507421 OTHER sequence alteration 20534489
nsv508483 CNV deletion 20534489
nsv521054 CNV loss 19592680
nsv5957 CNV deletion 18451855
nsv608442 CNV gain 21841781
nsv608444 CNV gain 21841781
nsv831145 CNV gain 17160897
nsv949951 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  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 46 64
  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 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64

Products for LRGUK Gene

  • Addgene plasmids for LRGUK

Sources for LRGUK Gene

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