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LRR1 leucine rich repeat protein 1 [ Homo sapiens (human) ]

Gene ID: 122769, updated on 21-Dec-2019

Summary

Official Symbol
LRR1provided by HGNC
Official Full Name
leucine rich repeat protein 1provided by HGNC
Primary source
HGNC:HGNC:19742
See related
Ensembl:ENSG00000165501 MIM:609193
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
LRR-1; PPIL5; 4-1BBLRR
Summary
The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Expression
Broad expression in testis (RPKM 19.8), bone marrow (RPKM 6.1) and 21 other tissues See more
Orthologs

Genomic context

See LRR1 in Genome Data Viewer
Location:
14q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (49598697..49614672)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50065383..50081390)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S29 Neighboring gene ribosomal protein L32 pseudogene 29 Neighboring gene uncharacterized LOC107987206 Neighboring gene RNA component of signal recognition particle 7SL1 Neighboring gene ras homolog family member Q pseudogene 1 Neighboring gene ribosomal protein L36a pseudogene 42 Neighboring gene ribosomal protein L36a like Neighboring gene alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20689

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
leucine-rich repeat protein 1
Names
4-1BB-mediated signaling molecule
LRR-repeat protein 1
cyclophilin-like 5
epididymis secretory sperm binding protein
peptidylprolyl isomerase (cyclophilin)-like 5, isoform 3
peptidylprolyl isomerase-like 5

NCBI Reference Sequences (RefSeq)

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_152329.4NP_689542.2  leucine-rich repeat protein 1 isoform 1

    See identical proteins and their annotated locations for NP_689542.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Isoform 1 has also been named LRR-1a.
    Source sequence(s)
    BI825814, BX248298, BX648029
    Consensus CDS
    CCDS9686.1
    UniProtKB/Swiss-Prot
    Q96L50
    UniProtKB/TrEMBL
    Q6AWA7
    Related
    ENSP00000298288.6, ENST00000298288.11
    Conserved Domains (3) summary
    cd00116
    Location:176261
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:156178
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:177238
    LRR_8; Leucine rich repeat
  2. NM_203467.1NP_982292.1  leucine-rich repeat protein 1 isoform 3

    See identical proteins and their annotated locations for NP_982292.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a coding region exon which leads to a frameshift, compared to variant 1. The resulting isoform (3) has a distinct and shorter C-terminus, as compared to isoform 1. Isoform 3 has also been named LRR-1b.
    Source sequence(s)
    BI825814, BI826606, BX648029
    Consensus CDS
    CCDS9687.1
    UniProtKB/Swiss-Prot
    Q96L50
    UniProtKB/TrEMBL
    Q6AWA7
    Related
    ENSP00000315628.4, ENST00000318317.8

RNA

  1. NR_037792.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AL139099
    Related
    ENST00000554869.5
  2. NR_037793.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AL139099
    Related
    ENST00000540712.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    49598697..49614672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_203466.1: Suppressed sequence

    Description
    NM_203466.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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