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    LRRC30 leucine rich repeat containing 30 [ Homo sapiens (human) ]

    Gene ID: 339291, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LRRC30provided by HGNC
    Official Full Name
    leucine rich repeat containing 30provided by HGNC
    Primary source
    HGNC:HGNC:30219
    See related
    Ensembl:ENSG00000206422 AllianceGenome:HGNC:30219
    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
    Summary
    Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
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    Genomic context

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    Location:
    18p11.23
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (7231089..7232044)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (7394203..7395158)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (7231087..7232042)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927188 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:6958646-6959845 Neighboring gene laminin subunit alpha 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:7034687-7035886 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:7038146-7039345 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:7043747-7043948 Neighboring gene SLC25A51 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:7158211-7158711 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:7203119-7203796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:7247997-7248498 Neighboring gene uncharacterized LOC105371973 Neighboring gene uncharacterized LOC105371974

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. 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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 30

    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_001105581.3 → NP_001099051.1  leucine-rich repeat-containing protein 30

      See identical proteins and their annotated locations for NP_001099051.1

      Status: VALIDATED

      Source sequence(s)
      AP005270
      Consensus CDS
      CCDS42409.1
      UniProtKB/Swiss-Prot
      A6NM36
      Related
      ENSP00000372959.2, ENST00000383467.3
      Conserved Domains (4) summary
      sd00031
      Location:257 → 277
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:73 → 95
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:141 → 179
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:94 → 173
      LRR_8; Leucine rich repeat

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      7231089..7232044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      7394203..7395158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NM36.1 GenPept UniProtKB/Swiss-Prot:A6NM36

    Gene LinkOut

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

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