Human Gene LRGUK (uc003vrm.1) Description and Page Index
  Description: Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr7:133,812,105-133,948,933 Size: 136,829 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr7:133,812,121-133,948,727 Size: 136,607 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:133,812,105-133,948,933)mRNA (may differ from genome)Protein (825 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Leucine-rich repeat and guanylate kinase domain-containing protein;
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 9 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LRGUK
CDC HuGE Published Literature: LRGUK
Positive Disease Associations: Blood Pressure , Carotid Artery Diseases , Echocardiography , P-Selectin
Related Studies:
  1. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  2. Carotid Artery Diseases
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  3. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.87 RPKM in Testis
Total median expression: 14.24 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00160.000 Picture PostScript Text
3' UTR -42.80206-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR001611 - Leu-rich_rpt
IPR025875 - Leu-rich_rpt_2_copies

Pfam Domains:
PF00625 - Guanylate kinase
PF12799 - Leucine Rich repeats (2 copies)
PF14580 - Leucine-rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q96M69
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0007283 spermatogenesis
GO:0016310 phosphorylation
GO:0030154 cell differentiation
GO:0035082 axoneme assembly

Cellular Component:
GO:0001669 acrosomal vesicle
GO:0002177 manchette
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  BC104899 - Homo sapiens leucine-rich repeats and guanylate kinase domain containing, mRNA (cDNA clone MGC:132559 IMAGE:8143902), complete cds.
BC104897 - Homo sapiens leucine-rich repeats and guanylate kinase domain containing, mRNA (cDNA clone MGC:132557 IMAGE:8143900), complete cds.
AK057348 - Homo sapiens cDNA FLJ32786 fis, clone TESTI2002256, weakly similar to GUANYLATE KINASE (EC
KJ904989 - Synthetic construct Homo sapiens clone ccsbBroadEn_14383 LRGUK-like gene, encodes complete protein.
BC038800 - Homo sapiens leucine-rich repeats and guanylate kinase domain containing, mRNA (cDNA clone IMAGE:5528079), with apparent retained intron.
JD267516 - Sequence 248540 from Patent EP1572962.
JD433826 - Sequence 414850 from Patent EP1572962.
JD314483 - Sequence 295507 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: LRGUK_HUMAN, NM_144648, NP_653249, Q2M3I1, Q96M69
UCSC ID: uc003vrm.1
RefSeq Accession: NM_144648
Protein: Q96M69 (aka LRGUK_HUMAN)
CCDS: CCDS5830.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_144648.1
exon count: 20CDS single in 3' UTR: no RNA size: 2700
ORF size: 2478CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 5156.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.