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 4
  • 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. Gene Ontology (GO) annotations related to this gene include kinase activity. An important paralog of this gene is LRRC9.

UniProtKB/Swiss-Prot Summary 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. Not essential for primary cilium biogenesis.

Additional gene information for LRGUK Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRGUK Gene

Genomics for LRGUK Gene

GeneHancer (GH) Regulatory Elements for LRGUK Gene

Promoters and enhancers for LRGUK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J134126 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 202 1.4 ZNF217 SIN3A NRF1 SIX5 PHB2 ZBTB10 ZBTB11 ZBTB26 SAP30 RFX1 LRGUK HSALNG0061490
GH07J134083 Enhancer 1.3 FANTOM5 Ensembl ENCODE 17.8 -42.5 -42503 3.2 JUND ZBTB11 AFF1 REST MYC CTBP1 JUN TAF9B HDAC3 NCOR1 LRGUK piR-41776 lnc-EXOC4-4 LOC105375513 LOC105375514
GH07J133492 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 -634.8 -634798 1.8 ZSCAN5C RBAK JUND ZNF639 ZNF10 ZNF354C ZBTB10 ZNF623 ZNF423 ZNF510 LRGUK SLC35B4 EXOC4 ENSG00000231098 RF00005-165 lnc-CHCHD3-2
GH07J133252 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.7 -873.1 -873098 3.6 ZBTB40 ZNF217 TCF12 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 SIX5 EXOC4 ENSG00000237821 LRGUK MIR6133
GH07J134188 Enhancer 0.5 Ensembl 18.9 +61.8 61801 1.8 EP300 MCM3 RBM25 GATA2 FOS POLR2A LRGUK CALD1 ENSG00000231098 SLC35B4 HSALNG0061491 lnc-EXOC4-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRGUK on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the LRGUK gene promoter:
  • AREB6
  • E4BP4
  • FAC1
  • FOXJ2 (long isoform)
  • FOXO1
  • FOXO1a
  • HNF-3beta
  • RORalpha1
  • S8

Genomic Locations for LRGUK Gene

Genomic Locations for LRGUK Gene
chr7:134,127,299-134,264,591
(GRCh38/hg38)
Size:
137,293 bases
Orientation:
Plus strand
chr7:133,812,052-133,949,343
(GRCh37/hg19)
Size:
137,292 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 (via guanylate kinase-like domain) with RIMBP3 (via coiled-coil region). Interacts (via guanylate kinase-like domain) with HOOK2. Interacts (via LRRCT domain) with KLC3. Interacts with HOOK1 and HOOK3.

neXtProt entry for LRGUK Gene

Post-translational modifications for LRGUK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LRGUK Gene

Domains & Families for LRGUK Gene

Gene Families for LRGUK Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRGUK Gene

Suggested Antigen Peptide Sequences for LRGUK Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat and guanylate kinase domain-containing protein (LRGUK_HUMAN)
genes like me logo Genes that share domains with LRGUK: view

No data available for Graphical View of Domain Structure 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. Not essential for primary cilium biogenesis.

Phenotypes From GWAS Catalog for LRGUK Gene

Gene Ontology (GO) - Molecular Function for LRGUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity IBA 21873635
GO:0005515 protein binding IEA --
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

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. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to the acrosome and acroplaxome in round spermatids. Localizes to the manchette during spermiogenesis. Also found in the basal body of elongating spermatids, and in primary cilia of somatic cells. {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 2
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 ISS,IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA 21873635
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with LRGUK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRGUK Gene

Pathways & Interactions for LRGUK Gene

PathCards logo

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 --
GO:0046037 GMP metabolic process 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

3 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for LRGUK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for LRGUK Gene



Protein tissue co-expression partners for LRGUK Gene

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

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 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRGUK 31 30
  • 85.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRGUK 31 30
  • 83.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrguk 30
  • 78.57 (n)
mouse
(Mus musculus)
Mammalia Lrguk 17 31 30
  • 78.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LRGUK 31
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRGUK 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRGUK 30
  • 64.02 (n)
lizard
(Anolis carolinensis)
Reptilia LRGUK 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrguk 30
  • 60.65 (n)
zebrafish
(Danio rerio)
Actinopterygii lrguk 31 30
  • 54.49 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea magu-3 31
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUK1 31
  • 19 (a)
OneToMany
NUD1 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for LRGUK: view image

Paralogs for LRGUK Gene

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

Variants for LRGUK Gene

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

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1554469989 Likely Benign: not specified 134,201,580(+) C/A INTRON_VARIANT
rs17167553 - p.Asp302Tyr
rs35149449 - p.Ala661Val

Additional dbSNP identifiers (rs#s) for LRGUK Gene

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)

Additional Variant Information for LRGUK Gene

Human Gene Mutation Database (HGMD)
LRGUK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRGUK

SNP Genotyping and Copy Number Assay Products

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

Disorders for LRGUK Gene

Additional Disease Information for LRGUK

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

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 MK (PLoS genetics 2015) 2 3 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  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 JM … Myers RH (BMC medical genetics 2008) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 54

Products for LRGUK Gene

Sources for LRGUK Gene