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

Gene ID: 136332, updated on 5-Mar-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, Apr 2022]
Expression
Biased expression in testis (RPKM 1.3), lung (RPKM 0.2) and 7 other tissues See more
Orthologs
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Genomic context

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Location:
7q33
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134127340..134276685)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135424298..135584803)
105.20220307 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)

Genotypes

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 phosphorylation 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_2023_10

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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