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LRRC47 leucine rich repeat containing 47 [ Homo sapiens (human) ]

Gene ID: 57470, updated on 23-Nov-2021

Summary

Official Symbol
LRRC47provided by HGNC
Official Full Name
leucine rich repeat containing 47provided by HGNC
Primary source
HGNC:HGNC:29207
See related
Ensembl:ENSG00000130764 MIM:619154
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
Ubiquitous expression in brain (RPKM 13.4), prostate (RPKM 12.8) and 25 other tissues See more
Orthologs
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Genomic context

See LRRC47 in Genome Data Viewer
Location:
1p36.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (3778559..3796498, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3695123..3713062, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 27 Neighboring gene small integral membrane protein 1 (Vel blood group) Neighboring gene RNA, 7SL, cytoplasmic 574, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1968 Neighboring gene centrosomal protein 104 Neighboring gene Sharpr-MPRA regulatory region 4254 Neighboring gene DNA fragmentation factor subunit beta

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
nucleocapsid gag HIV-1 NC is identified to have a physical interaction with leucine rich repeat containing 47 (LRRC47) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1185

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables phenylalanine-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in phenylalanyl-tRNA aminoacylation IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeat-containing protein 47

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_020710.3NP_065761.1  leucine-rich repeat-containing protein 47

    See identical proteins and their annotated locations for NP_065761.1

    Status: VALIDATED

    Source sequence(s)
    AB033011, AL365330, BC031301
    Consensus CDS
    CCDS51.1
    UniProtKB/Swiss-Prot
    Q8N1G4
    UniProtKB/TrEMBL
    A0A024R4G1
    Related
    ENSP00000367498.1, ENST00000378251.3
    Conserved Domains (3) summary
    COG4886
    Location:44239
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    PRK09616
    Location:317507
    pheT; phenylalanine--tRNA ligase subunit beta
    sd00033
    Location:5276
    LRR_RI; leucine-rich repeat [structural motif]

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    3778559..3796498 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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