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LRPPRC leucine-rich pentatricopeptide repeat containing [ Homo sapiens (human) ]

Gene ID: 10128, updated on 19-Jul-2014
Official Symbol
LRPPRCprovided by HGNC
Official Full Name
leucine-rich pentatricopeptide repeat containingprovided by HGNC
Primary source
HGNC:15714
See related
Ensembl:ENSG00000138095; HPRD:06343; MIM:607544; Vega:OTTHUMG00000152782
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
Also known as
LSFC; GP130; LRP130; CLONE-23970
Summary
This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
See LRPPRC in Epigenomics, MapViewer
Location:
2p21
Exon count:
38
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (43886224..43996005, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44113363..44223144, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dynein, cytoplasmic 2, light intermediate chain 1 Neighboring gene ATP-binding cassette, sub-family G (WHITE), member 5 Neighboring gene ATP-binding cassette, sub-family G (WHITE), member 8 Neighboring gene uncharacterized LOC102723904 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent, 1B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leigh syndrome, French Canadian type
MedGen: C1857355 OMIM: 220111 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of leucine-rich pentatricopeptide repeat containing (LRPPRC) by shRNA inhibits HIV-1 infection in HeLa T4 beta-gal cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify leucine-rich pentatricopeptide repeat containing (LRPPRC, LRP130), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with leucine-rich PPR-motif containing (LRPPRC) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
integrase gag-pol LRPPRC is associated with HIV-1 IN, MA, RNA, and DNA in the RTCs and PICs during early infection. Loss of LRPPRC reduces HIV-1 PIC formation and nuclear import PubMed
matrix gag LRPPRC is associated with HIV-1 IN, MA, RNA, and DNA in the RTCs and PICs during early infection. Loss of LRPPRC reduces HIV-1 PIC formation and nuclear import PubMed

Go to the HIV-1, Human Protein Interaction Database

  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
NOT actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
microtubule binding TAS
Traceable Author Statement
more info
PubMed 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mRNA transport IEA
Inferred from Electronic Annotation
more info
 
mitochondrion transport along microtubule TAS
Traceable Author Statement
more info
PubMed 
negative regulation of mitochondrial RNA catabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial translation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
colocalizes_with mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
leucine-rich PPR motif-containing protein, mitochondrial
Names
leucine-rich PPR motif-containing protein, mitochondrial
LRP 130
130 kDa leucine-rich protein
leucine-rich PPR-motif containing
mitochondrial leucine-rich PPR motif-containing protein

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.

Genomic

  1. NG_008247.1 

    Range
    5001..114782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_133259.3NP_573566.2  leucine-rich PPR motif-containing protein, mitochondrial precursor

    See proteins identical to NP_573566.2

    Status: REVIEWED

    Source sequence(s)
    AC108476, AY289212, BC130285, BQ021667
    Consensus CDS
    CCDS33189.1
    UniProtKB/TrEMBL
    E5KNY5
    UniProtKB/Swiss-Prot
    P42704
    Related
    ENSP00000260665, OTTHUMP00000202377, ENST00000260665, OTTHUMT00000327823
    Conserved Domains (1) summary
    cl03252
    Location:195244
    Blast Score: 103
    PPR_2; PPR repeat family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    43886224..43996005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711915.1XP_006711978.1  

    Conserved Domains (1) summary
    cl03252
    Location:169218
    Blast Score: 103
    PPR_2; PPR repeat family
  2. XM_006711916.1XP_006711979.1  

    Conserved Domains (1) summary
    cl03252
    Location:195244
    Blast Score: 104
    PPR_2; PPR repeat family

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    43849689..43959564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    44042771..44152581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)