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

Summary

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, Dec 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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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

RH119550 (e-PCR)
- UniSTS:132633

RH121440 (e-PCR)
- UniSTS:138022

D7S631 (e-PCR), detects polymorphism
- UniSTS:36393

D7S2438 (e-PCR)
- UniSTS:61230

D7S631 (e-PCR), detects polymorphism
- UniSTS:10041

G62620 (e-PCR)
- UniSTS:139600

G63230 (e-PCR)
- UniSTS:140202

D7S2438 (e-PCR)
- UniSTS:30654

D8S2110 (e-PCR)
- UniSTS:7151

D7S725 (e-PCR)
- UniSTS:18166

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)

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

Status: VALIDATED

Source sequence(s)

AC018646
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

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

134127340..134276685

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
XM_047419890.1 → XP_047275846.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X5
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]
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]
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
XM_047419889.1 → XP_047275845.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X2

RNA

XR_002956408.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

135424298..135584803

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357254.1 → XP_054213229.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X7
XM_054357255.1 → XP_054213230.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X7
XM_054357258.1 → XP_054213233.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X3
XM_054357260.1 → XP_054213235.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X5
XM_054357259.1 → XP_054213234.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X4
XM_054357261.1 → XP_054213236.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X6
XM_054357256.1 → XP_054213231.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X1
XM_054357257.1 → XP_054213232.1 leucine-rich repeat and guanylate kinase domain-containing protein isoform X2