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

    Gene ID: 10233, updated on 14-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
    mouse all
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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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    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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    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 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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