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

Gene ID: 254050, updated on 23-Nov-2021

Summary

Official Symbol
LRRC43provided by HGNC
Official Full Name
leucine rich repeat containing 43provided by HGNC
Primary source
HGNC:HGNC:28562
See related
Ensembl:ENSG00000158113
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
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Genomic context

See LRRC43 in Genome Data Viewer
Location:
12q24.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122167719..122203471)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122652266..122688018)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506691 Neighboring gene Sharpr-MPRA regulatory region 8907 Neighboring gene MLX interacting protein Neighboring gene Sharpr-MPRA regulatory region 11163 Neighboring gene interleukin 31 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 Neighboring gene diablo IAP-binding mitochondrial protein Neighboring gene Sharpr-MPRA regulatory region 2179

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

General gene information

Markers

Homology

Clone Names

  • MGC35140

General protein information

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_001098519.2NP_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
    Q8N309
    Related
    ENSP00000344233.4, ENST00000339777.5
    Conserved Domains (2) summary
    sd00031
    Location:173196
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:155207
    LRR_8; Leucine rich repeat
  2. NM_152759.5NP_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: 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_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017019124.1XP_016874613.1  leucine-rich repeat-containing protein 43 isoform X1

  2. XM_017019125.1XP_016874614.1  leucine-rich repeat-containing protein 43 isoform X2

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