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

Gene ID: 339291, updated on 2-Nov-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 be involved in signal transduction. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
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Genomic context

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See LRRC30 in Genome Data Viewer
Location:
18p11.23
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (7231089..7232044)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (7394203..7395158)
RS_2024_09 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 intracellular 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_2024_08

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

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