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    LRRC43 leucine rich repeat containing 43 [ Homo sapiens (human) ]

    Gene ID: 254050, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LRRC43provided by HGNC
    Official Full Name
    leucine rich repeat containing 43provided by HGNC
    Primary source
    HGNC:HGNC:28562
    See related
    Ensembl:ENSG00000158113 AllianceGenome:HGNC:28562
    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
    Expression
    Biased expression in testis (RPKM 2.7), kidney (RPKM 1.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC43 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122167719..122203471)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122163508..122199259)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122652266..122688018)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7199 Neighboring gene long intergenic non-protein coding RNA 2985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122509410-122510254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7204 Neighboring gene MLX interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122580754-122581254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122581255-122581755 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122582507-122583160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122583161-122583814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7205 Neighboring gene Sharpr-MPRA regulatory region 11163 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611084-122611596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122611597-122612107 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:122614034-122615233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122622713-122623575 Neighboring gene MPRA-validated peak2016 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122651061-122651663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7209 Neighboring gene interleukin 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5011 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 Neighboring gene diablo IAP-binding mitochondrial protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122709001-122709906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7211 Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene uncharacterized LOC128125816 Neighboring gene uncharacterized LOC101593348

    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC35140

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 43

    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_001098519.2 → NP_001091989.1  leucine-rich repeat-containing protein 43 isoform 1

      See identical proteins and their annotated locations for NP_001091989.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK124107, BC029245, DA951767
      Consensus CDS
      CCDS45001.1
      UniProtKB/Swiss-Prot
      Q6ZVT9, Q8N309
      Related
      ENSP00000344233.4, ENST00000339777.5
      Conserved Domains (2) summary
      sd00031
      Location:173 → 196
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:155 → 207
      LRR_8; Leucine rich repeat

    2. NM_152759.5 → NP_689972.3  leucine-rich repeat-containing protein 43 isoform 2

      See identical proteins and their annotated locations for NP_689972.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK124107, BC029245
      UniProtKB/Swiss-Prot
      Q8N309

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122167719..122203471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019124.2 → XP_016874613.1  leucine-rich repeat-containing protein 43 isoform X4

    2. XM_047428662.1 → XP_047284618.1  leucine-rich repeat-containing protein 43 isoform X6

    3. XM_047428663.1 → XP_047284619.1  leucine-rich repeat-containing protein 43 isoform X7

    4. XM_047428659.1 → XP_047284615.1  leucine-rich repeat-containing protein 43 isoform X2

    5. XM_047428658.1 → XP_047284614.1  leucine-rich repeat-containing protein 43 isoform X1

    6. XM_047428660.1 → XP_047284616.1  leucine-rich repeat-containing protein 43 isoform X3

    7. XM_047428661.1 → XP_047284617.1  leucine-rich repeat-containing protein 43 isoform X5

    8. XM_017019125.2 → XP_016874614.1  leucine-rich repeat-containing protein 43 isoform X10

    9. XM_047428664.1 → XP_047284620.1  leucine-rich repeat-containing protein 43 isoform X8

    10. XM_047428665.1 → XP_047284621.1  leucine-rich repeat-containing protein 43 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122163508..122199259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371661.1 → XP_054227636.1  leucine-rich repeat-containing protein 43 isoform X4

    2. XM_054371663.1 → XP_054227638.1  leucine-rich repeat-containing protein 43 isoform X6

    3. XM_054371664.1 → XP_054227639.1  leucine-rich repeat-containing protein 43 isoform X7

    4. XM_054371659.1 → XP_054227634.1  leucine-rich repeat-containing protein 43 isoform X2

    5. XM_054371658.1 → XP_054227633.1  leucine-rich repeat-containing protein 43 isoform X1

    6. XM_054371660.1 → XP_054227635.1  leucine-rich repeat-containing protein 43 isoform X3

    7. XM_054371662.1 → XP_054227637.1  leucine-rich repeat-containing protein 43 isoform X5

    8. XM_054371667.1 → XP_054227642.1  leucine-rich repeat-containing protein 43 isoform X10

    9. XM_054371665.1 → XP_054227640.1  leucine-rich repeat-containing protein 43 isoform X8

    10. XM_054371666.1 → XP_054227641.1  leucine-rich repeat-containing protein 43 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N309.2 GenPept UniProtKB/Swiss-Prot:Q8N309

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