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

Gene ID: 254050, updated on 5-Aug-2022

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 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
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Genomic context

See LRRC43 in Genome Data Viewer
Location:
12q24.31
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122167719..122203471)
110 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 long intergenic non-protein coding RNA 2985 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

General gene information

Markers

Homology

Clone Names

  • MGC35140

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein serine/threonine phosphatase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of protein phosphatase type 1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
    Q6ZVT9, 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 Annotation Release 110 details...Open this link in a new tab

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_017019124.2XP_016874613.1  leucine-rich repeat-containing protein 43 isoform X4

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

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

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

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

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

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

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

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

  10. XM_047428665.1XP_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)