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    LRGUK leucine rich repeats and guanylate kinase domain containing [ Homo sapiens (human) ]

    Gene ID: 136332, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRGUKprovided by HGNC
    Official Full Name
    leucine rich repeats and guanylate kinase domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:21964
    See related
    Ensembl:ENSG00000155530 MIM:616478; AllianceGenome:HGNC:21964
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFAP246
    Summary
    Predicted to enable guanylate kinase activity. Predicted to be involved in axoneme assembly and spermatogenesis. Predicted to be located in acrosomal vesicle and manchette. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.3), lung (RPKM 0.2) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRGUK in Genome Data Viewer
    Location:
    7q33
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134127340..134276685)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135424298..135584803)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (133812093..133949347)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene exocyst complex component 4 Neighboring gene uncharacterized LOC101928861 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:133579356-133579976 Neighboring gene MPRA-validated peak6743 silencer Neighboring gene MPRA-validated peak6744 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26686 Neighboring gene uncharacterized LOC105375514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:133814671-133815405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18670 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:133874107-133874656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26689 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:134050229-134051428 Neighboring gene uncharacterized LOC105375518 Neighboring gene uncharacterized LOC105375517 Neighboring gene solute carrier family 35 member B4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study. Laramie JM, et al. BMC Med Genet, 2008 May 22. PMID 18498660, Free PMC Article
    2. Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer. Khan N, et al. J Biol Chem, 2019 Aug 2. PMID 31201273, Free PMC Article
    3. LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility. Liu Y, et al. PLoS Genet, 2015 Mar. PMID 25781171, Free PMC Article
    4. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The structure revealed that hGMPK consists of three distinct regions designated as the LID, GMP-binding (GMP-BD), and CORE domains and is in an open configuration that is nucleotide binding-competent. Nonsynonymous single-nucleotide variants of the hGMPK CORE domain distant from the nucleotide-binding site of this domain modulate enzymatic activity without significantly affecting hGMPK's structure.
      Title: Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer.
    2. Study demonstrates that leucine-rich repeats and guanylate kinase-domain containing isoform 1 (LRGUK-1) is required for multiple aspects of sperm assembly, including acrosome attachment, sperm head shaping and the initiation of the axoneme growth to form the core of the sperm tail.
      Title: LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32786

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GDP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in manchette ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat and guanylate kinase domain-containing protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001365700.3 → NP_001352629.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC018646
      Consensus CDS
      CCDS94203.1
      UniProtKB/TrEMBL
      A0A8Q3SI13
      Related
      ENSP00000511999.1, ENST00000695542.2
      Conserved Domains (4) summary
      COG4886
      Location:150 → 337
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00071
      Location:416 → 592
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      sd00033
      Location:131 → 150
      LRR_RI; leucine-rich repeat [structural motif]
      cl26464
      Location:784 → 1126
      Atrophin-1; Atrophin-1 family

    2. NM_001365701.3 → NP_001352630.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC018646
      Consensus CDS
      CCDS94204.1
      UniProtKB/TrEMBL
      A0A2R8YEJ5
      Related
      ENSP00000495637.1, ENST00000645682.1
      Conserved Domains (4) summary
      COG4886
      Location:150 → 337
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00071
      Location:416 → 592
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      sd00033
      Location:131 → 150
      LRR_RI; leucine-rich repeat [structural motif]
      cl26464
      Location:783 → 1125
      Atrophin-1; Atrophin-1 family

    3. NM_001401519.1 → NP_001388448.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018646

    4. NM_144648.3 → NP_653249.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform 3

      See identical proteins and their annotated locations for NP_653249.1

      Status: VALIDATED

      Source sequence(s)
      AC008154, AC018646
      Consensus CDS
      CCDS5830.1
      UniProtKB/Swiss-Prot
      Q2M3I1, Q96M69
      Related
      ENSP00000285928.2, ENST00000285928.3
      Conserved Domains (5) summary
      cd00071
      Location:416 → 592
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      cd00116
      Location:95 → 345
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:131 → 150
      LRR_RI; leucine-rich repeat [structural motif]
      pfam00625
      Location:417 → 599
      Guanylate_kin; Guanylate kinase
      pfam13855
      Location:217 → 292
      LRR_8; Leucine rich repeat

    RNA

    1. NR_174939.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC018646

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      134127340..134276685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446659.2 → XP_024302427.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X3

      Conserved Domains (3) summary
      COG4886
      Location:150 → 337
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00071
      Location:416 → 592
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      sd00033
      Location:131 → 150
      LRR_RI; leucine-rich repeat [structural motif]

    2. XM_047419890.1 → XP_047275846.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X5

    3. XM_024446661.2 → XP_024302429.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X4

      Conserved Domains (3) summary
      COG4886
      Location:150 → 337
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00071
      Location:416 → 592
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      sd00033
      Location:131 → 150
      LRR_RI; leucine-rich repeat [structural motif]

    4. XM_024446662.2 → XP_024302430.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X6

      Conserved Domains (3) summary
      COG4886
      Location:150 → 337
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00071
      Location:416 → 592
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      sd00033
      Location:131 → 150
      LRR_RI; leucine-rich repeat [structural motif]

    5. XM_024446658.2 → XP_024302426.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X1

      Conserved Domains (4) summary
      COG4886
      Location:129 → 268
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00071
      Location:347 → 523
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      sd00033
      Location:132 → 150
      LRR_RI; leucine-rich repeat [structural motif]
      cl26464
      Location:715 → 1057
      Atrophin-1; Atrophin-1 family

    6. XM_047419889.1 → XP_047275845.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X2

    RNA

    1. XR_002956408.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      135424298..135584803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357254.1 → XP_054213229.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X7

    2. XM_054357255.1 → XP_054213230.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X7

    3. XM_054357258.1 → XP_054213233.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X3

    4. XM_054357260.1 → XP_054213235.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X5

    5. XM_054357259.1 → XP_054213234.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X4

    6. XM_054357261.1 → XP_054213236.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X6

    7. XM_054357256.1 → XP_054213231.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X1

    8. XM_054357257.1 → XP_054213232.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X2

    RNA

    1. XR_008487528.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M69.1 GenPept UniProtKB/Swiss-Prot:Q96M69

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