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

Gene ID: 136332, updated on 23-Nov-2021

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
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
Expression
Biased expression in testis (RPKM 1.3), lung (RPKM 0.2) and 7 other tissues See more
Orthologs
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Try the new Transcript table

Genomic context

See LRGUK in Genome Data Viewer
Location:
7q33
Exon count:
26
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (134127340..134282475)
105.20201022 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 uncharacterized LOC105375513 Neighboring gene uncharacterized LOC105375514 Neighboring gene uncharacterized LOC105375518 Neighboring gene uncharacterized LOC105375517 Neighboring gene solute carrier family 35 member B4

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
located_in manchette ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001365700.3NP_001352629.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform 1

    Status: INFERRED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC018646
    Conserved Domains (4) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
    cl26464
    Location:7841126
    Atrophin-1; Atrophin-1 family
  2. NM_001365701.3NP_001352630.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform 2

    Status: INFERRED

    Source sequence(s)
    AC018646
    Related
    ENSP00000495637.1, ENST00000645682.1
    Conserved Domains (4) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
    cl26464
    Location:7831125
    Atrophin-1; Atrophin-1 family
  3. NM_144648.3NP_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
    Q96M69
    Related
    ENSP00000285928.2, ENST00000285928.2
    Conserved Domains (5) summary
    cd00071
    Location:416592
    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:95345
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00625
    Location:417599
    Guanylate_kin; Guanylate kinase
    pfam13855
    Location:217292
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    134127340..134282475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446660.1XP_024302428.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X5

    Conserved Domains (3) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
  2. XM_024446659.1XP_024302427.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X5

    Conserved Domains (3) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
  3. XM_024446661.1XP_024302429.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X6

    Conserved Domains (3) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
  4. XM_024446662.1XP_024302430.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X7

    Conserved Domains (3) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
  5. XM_024446658.1XP_024302426.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X3

    Conserved Domains (4) summary
    COG4886
    Location:129268
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:347523
    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:132150
    LRR_RI; leucine-rich repeat [structural motif]
    cl26464
    Location:7151057
    Atrophin-1; Atrophin-1 family
  6. XM_024446663.1XP_024302431.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X8

    Conserved Domains (3) summary
    COG4886
    Location:150337
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00071
    Location:416592
    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:131150
    LRR_RI; leucine-rich repeat [structural motif]
  7. XM_017011749.1XP_016867238.1  leucine-rich repeat and guanylate kinase domain-containing protein isoform X4

RNA

  1. XR_002956408.1 RNA Sequence

  2. XR_002956409.1 RNA Sequence

  3. XR_002956410.1 RNA Sequence

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