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LRRC23 leucine rich repeat containing 23 [ Homo sapiens (human) ]

Gene ID: 10233, updated on 2-Nov-2024

Summary

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Official Symbol
LRRC23provided by HGNC
Official Full Name
leucine rich repeat containing 23provided by HGNC
Primary source
HGNC:HGNC:19138
See related
Ensembl:ENSG00000010626 MIM:620708; AllianceGenome:HGNC:19138
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
LRPB7; SPGF92
Summary
Involved in flagellated sperm motility and radial spoke assembly. Located in sperm flagellum. Implicated in spermatogenic failure 92. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 16.2), lung (RPKM 5.4) and 20 other tissues See more
Orthologs
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Genomic context

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See LRRC23 in Genome Data Viewer
Location:
12p13.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6904822..6914229)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6915432..6925409)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7013986..7023393)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6993123-6993671 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:6995318-6995865 Neighboring gene ribosomal protein L13 pseudogene 5 Neighboring gene DSTN pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:7000801-7001348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5890 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:7023548-7023738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024095-7024736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:7024737-7025376 Neighboring gene enolase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5891 Neighboring gene uncharacterized LOC124902868 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7033606-7034306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:7035007-7035706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4194 Neighboring gene atrophin 1 Neighboring gene atrophin 1 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4195

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 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. Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family. Tang SX, et al. Asian J Androl, 2024 Sep 1. PMID 39054792, Free PMC Article
  2. Expression and localization of leucine-rich B7 protein in human ocular tissues. Tasheva ES, et al. Mol Vis, 2005 Jul 6. PMID 16030496
  3. LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes. Li Y, et al. Clin Genet, 2023 Dec. PMID 37804054
  4. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. Hwang JY, et al. Elife, 2023 Dec 13. PMID 38091523, Free PMC Article
  5. LRRC23 is a conserved component of the radial spoke that is necessary for sperm motility and male fertility in mice. Zhang X, et al. J Cell Sci, 2021 Oct 15. PMID 34585727, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.
    Title: Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.
  2. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
    Title: LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
  3. LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes.
    Title: LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in radial spoke assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm flagellum IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
leucine-rich repeat-containing protein 23
Names
leucine-rich protein B7

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_001135217.2 → NP_001128689.1  leucine-rich repeat-containing protein 23 isoform a

    See identical proteins and their annotated locations for NP_001128689.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (a).
    Source sequence(s)
    AI524335, AK292291, AK292367, DB027456
    Consensus CDS
    CCDS8569.1
    UniProtKB/Swiss-Prot
    A8K8C6, D3DUT1, Q53EV4, Q8N6K6, Q92977, Q99620
    UniProtKB/TrEMBL
    A8K8K2
    Related
    ENSP00000390932.2, ENST00000443597.7
    Conserved Domains (3) summary
    sd00033
    Location:93 → 114
    LRR_RI; leucine-rich repeat [structural motif]
    NF033188
    Location:81 → 162
    internalin_H; InlH/InlC2 family class 1 internalin
    cd21340
    Location:146 → 304
    PPP1R42; protein phosphatase 1 regulatory subunit 42

  2. NM_006992.4 → NP_008923.1  leucine-rich repeat-containing protein 23 isoform b

    See identical proteins and their annotated locations for NP_008923.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK292367, BC029858, U72508
    Consensus CDS
    CCDS8568.1
    UniProtKB/Swiss-Prot
    Q53EV4
    UniProtKB/TrEMBL
    A8K8K2
    Related
    ENSP00000317464.5, ENST00000323702.9
    Conserved Domains (3) summary
    sd00033
    Location:93 → 114
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:200 → 241
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:200 → 256
    LRR_8; Leucine rich repeat

  3. NM_201650.3 → NP_964013.1  leucine-rich repeat-containing protein 23 isoform a

    See identical proteins and their annotated locations for NP_964013.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AK292367, BC029858
    Consensus CDS
    CCDS8569.1
    UniProtKB/Swiss-Prot
    A8K8C6, D3DUT1, Q53EV4, Q8N6K6, Q92977, Q99620
    UniProtKB/TrEMBL
    A8K8K2
    Related
    ENSP00000007969.8, ENST00000007969.12
    Conserved Domains (3) summary
    sd00033
    Location:93 → 114
    LRR_RI; leucine-rich repeat [structural motif]
    NF033188
    Location:81 → 162
    internalin_H; InlH/InlC2 family class 1 internalin
    cd21340
    Location:146 → 304
    PPP1R42; protein phosphatase 1 regulatory subunit 42

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    6904822..6914229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    6915432..6925409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181613.1: Suppressed sequence

    Description
    NM_181613.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53EV4.2 GenPept UniProtKB/Swiss-Prot:Q53EV4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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