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LRRC53 leucine rich repeat containing 53 [ Homo sapiens (human) ]

Gene ID: 105378803, updated on 13-Mar-2024

Summary

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Official Symbol
LRRC53provided by HGNC
Official Full Name
leucine rich repeat containing 53provided by HGNC
Primary source
HGNC:HGNC:25255
See related
Ensembl:ENSG00000162621 AllianceGenome:HGNC:25255
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
1p31.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74469376..74537079, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74310757..74378470, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (74935060..74978295, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeats and IQ motif containing 3 Neighboring gene MPRA-validated peak287 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 994 Neighboring gene FPGT-TNNI3K readthrough Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:74710898-74711549 Neighboring gene fucose-1-phosphate guanylyltransferase Neighboring gene TNNI3 interacting kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74817906-74818406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:74818407-74818907 Neighboring gene Sharpr-MPRA regulatory region 9784 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:74994213-74994947 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:75187729-75188286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:75198416-75199126 Neighboring gene crystallin zeta

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. Utilizing glycine N-methyltransferasegene knockout mice as a model for identification of missing proteins in hepatocellular carcinoma. Yang MH, et al. Oncotarget, 2018 Jan 2. PMID 29416626, Free PMC Article
  2. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. 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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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
leucine-rich repeat-containing protein 53

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_001364666.2 → NP_001351595.1  leucine-rich repeat-containing protein 53 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC105271, BX470253
    Conserved Domains (2) summary
    sd00033
    Location:51 → 76
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:99 → 161
    LRR_8; Leucine rich repeat

  2. NM_001382280.1 → NP_001369209.1  leucine-rich repeat-containing protein 53 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC105271, BX470253
    Consensus CDS
    CCDS90978.1
    UniProtKB/Swiss-Prot
    A6NM62
    Related
    ENSP00000294635.4, ENST00000294635.5
    Conserved Domains (2) summary
    sd00033
    Location:83 → 108
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:131 → 193
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    74469376..74537079 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542512.4 → XP_011540814.2  leucine-rich repeat-containing protein 53 isoform X2

  2. XM_017003081.2 → XP_016858570.1  leucine-rich repeat-containing protein 53 isoform X1

    Conserved Domains (2) summary
    COG4886
    Location:62 → 202
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:70 → 95
    LRR_RI; leucine-rich repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    74310757..74378470 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333875.1 → XP_054189850.1  leucine-rich repeat-containing protein 53 isoform X1

  2. XM_054333876.1 → XP_054189851.1  leucine-rich repeat-containing protein 53 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NM62.2 GenPept UniProtKB/Swiss-Prot:A6NM62

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials