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Protein

Leucine-rich repeat protein 1

Gene

LRR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat protein 1
Alternative name(s):
4-1BB-mediated-signaling molecule
4-1BBlrr
LRR-repeat protein 1
Short name:
LRR-1
Peptidylprolyl isomerase-like 5
Gene namesi
Name:LRR1
Synonyms:PPIL5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000165501.16
HGNCiHGNC:19742 LRR1
MIMi609193 gene
neXtProtiNX_Q96L50

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi341 – 344HIIP → AAA: Abolishes interaction with CUL2 and RBX1. 1 Publication4

Organism-specific databases

DisGeNETi122769
OpenTargetsiENSG00000165501
PharmGKBiPA134915321

Polymorphism and mutation databases

BioMutaiLRR1
DMDMi37079896

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844471 – 414Leucine-rich repeat protein 1Add BLAST414

Proteomic databases

EPDiQ96L50
MaxQBiQ96L50
PaxDbiQ96L50
PeptideAtlasiQ96L50
PRIDEiQ96L50
ProteomicsDBi77150
77151 [Q96L50-2]

PTM databases

iPTMnetiQ96L50
PhosphoSitePlusiQ96L50

Expressioni

Tissue specificityi

Ubiquitous. Maximal expression was seen in the heart and skeletal muscle and minimal expression seen in the kidney.

Gene expression databases

BgeeiENSG00000165501 Expressed in 158 organ(s), highest expression level in testis
CleanExiHS_PPIL5
ExpressionAtlasiQ96L50 baseline and differential
GenevisibleiQ96L50 HS

Organism-specific databases

HPAiHPA065703
HPA069364

Interactioni

Subunit structurei

Interacts with the cytoplasmic domain of TNFRSF9. Component of the probable ECS(LRR1) E3 ubiquitin-protein ligase complex which contains CUL2, RBX1, Elongin BC complex and LRR1. Interacts with CUL2, RBX1, ELOB and ELOC.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi125793, 28 interactors
IntActiQ96L50, 16 interactors
MINTiQ96L50
STRINGi9606.ENSP00000298288

Structurei

3D structure databases

ProteinModelPortaliQ96L50
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati155 – 176LRR 1Add BLAST22
Repeati178 – 199LRR 2Add BLAST22
Repeati201 – 222LRR 3Add BLAST22
Repeati227 – 248LRR 4Add BLAST22
Repeati250 – 271LRR 5Add BLAST22
Repeati273 – 294LRR 6Add BLAST22
Repeati295 – 316LRR 7Add BLAST22

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00920000149087
HOGENOMiHOG000273865
HOVERGENiHBG045576
InParanoidiQ96L50
KOiK10348
OMAiLVDNMGG
OrthoDBiEOG091G0F7R
PhylomeDBiQ96L50
TreeFamiTF319257

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR025875 Leu-rich_rpt_4
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF12799 LRR_4, 1 hit
PF13516 LRR_6, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 4 hits
PROSITEiView protein in PROSITE
PS51450 LRR, 6 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96L50-1) [UniParc]FASTAAdd to basket
Also known as: LRR-1a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLHCEVEVI SRHLPALGLR NRGKGVRAVL SLCQQTSRSQ PPVRAFLLIS
60 70 80 90 100
TLKDKRGTRY ELRENIEQFF TKFVDEGKAT VRLKEPPVDI CLSKAISSSL
110 120 130 140 150
KGFLSAMRLA HRGCNVDTPV STLTPVKTSE FENFKTKMVI TSKKDYPLSK
160 170 180 190 200
NFPYSLEHLQ TSYCGLVRVD MRMLCLKSLR KLDLSHNHIK KLPATIGDLI
210 220 230 240 250
HLQELNLNDN HLESFSVALC HSTLQKSLRS LDLSKNKIKA LPVQFCQLQE
260 270 280 290 300
LKNLKLDDNE LIQFPCKIGQ LINLRFLSAA RNKLPFLPSE FRNLSLEYLD
310 320 330 340 350
LFGNTFEQPK VLPVIKLQAP LTLLESSART ILHNRIPYGS HIIPFHLCQD
360 370 380 390 400
LDTAKICVCG RFCLNSFIQG TTTMNLHSVA HTVVLVDNLG GTEAPIISYF
410
CSLGCYVNSS DMLK
Length:414
Mass (Da):46,723
Last modified:September 26, 2003 - v2
Checksum:iB19B178D6CB33C4C
GO
Isoform 2 (identifier: Q96L50-2) [UniParc]FASTAAdd to basket
Also known as: LRR-1b

The sequence of this isoform differs from the canonical sequence as follows:
     95-146: AISSSLKGFL...KMVITSKKDY → DSIWLSYHSI...FCCPHCGLSR
     147-414: Missing.

Show »
Length:146
Mass (Da):16,964
Checksum:i2D91A9E05740A5C2
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5H2G3V5H2_HUMAN
Leucine-rich repeat protein 1
LRR1 PPIL5, hCG_1640043
133Annotation score:
Q6P393Q6P393_HUMAN
Leucine-rich repeat protein 1
LRR1 PPIL5
64Annotation score:

Sequence cautioni

The sequence CAD62625 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9V → A in BAG56701 (PubMed:14702039).Curated1
Sequence conflicti25G → V in AAL11430 (PubMed:11804328).Curated1
Sequence conflicti28A → S in AAL11430 (PubMed:11804328).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05109596I → N. Corresponds to variant dbSNP:rs17121605Ensembl.1
Natural variantiVAR_051096229R → W. Corresponds to variant dbSNP:rs7148147Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00836395 – 146AISSS…SKKDY → DSIWLSYHSIPSLPRFGYRK NLCLWKILSELFHSRNYYHE SAFCCPHCGLSR in isoform 2. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_008364147 – 414Missing in isoform 2. 2 PublicationsAdd BLAST268

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY052405 mRNA Translation: AAL11430.1
BX248298 mRNA Translation: CAD62625.1 Different initiation.
AK293156 mRNA Translation: BAG56701.1
CH471078 Genomic DNA Translation: EAW65761.1
BC030142 mRNA Translation: AAH30142.1
BC093697 mRNA Translation: AAH93697.1
BC112241 mRNA Translation: AAI12242.1
BC139921 mRNA Translation: AAI39922.1
CCDSiCCDS9686.1 [Q96L50-1]
CCDS9687.1 [Q96L50-2]
RefSeqiNP_689542.2, NM_152329.3 [Q96L50-1]
NP_982292.1, NM_203467.1 [Q96L50-2]
UniGeneiHs.451090

Genome annotation databases

EnsembliENST00000298288; ENSP00000298288; ENSG00000165501 [Q96L50-1]
ENST00000318317; ENSP00000315628; ENSG00000165501 [Q96L50-2]
GeneIDi122769
KEGGihsa:122769
UCSCiuc001wwn.3 human [Q96L50-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY052405 mRNA Translation: AAL11430.1
BX248298 mRNA Translation: CAD62625.1 Different initiation.
AK293156 mRNA Translation: BAG56701.1
CH471078 Genomic DNA Translation: EAW65761.1
BC030142 mRNA Translation: AAH30142.1
BC093697 mRNA Translation: AAH93697.1
BC112241 mRNA Translation: AAI12242.1
BC139921 mRNA Translation: AAI39922.1
CCDSiCCDS9686.1 [Q96L50-1]
CCDS9687.1 [Q96L50-2]
RefSeqiNP_689542.2, NM_152329.3 [Q96L50-1]
NP_982292.1, NM_203467.1 [Q96L50-2]
UniGeneiHs.451090

3D structure databases

ProteinModelPortaliQ96L50
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125793, 28 interactors
IntActiQ96L50, 16 interactors
MINTiQ96L50
STRINGi9606.ENSP00000298288

PTM databases

iPTMnetiQ96L50
PhosphoSitePlusiQ96L50

Polymorphism and mutation databases

BioMutaiLRR1
DMDMi37079896

Proteomic databases

EPDiQ96L50
MaxQBiQ96L50
PaxDbiQ96L50
PeptideAtlasiQ96L50
PRIDEiQ96L50
ProteomicsDBi77150
77151 [Q96L50-2]

Protocols and materials databases

DNASUi122769
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298288; ENSP00000298288; ENSG00000165501 [Q96L50-1]
ENST00000318317; ENSP00000315628; ENSG00000165501 [Q96L50-2]
GeneIDi122769
KEGGihsa:122769
UCSCiuc001wwn.3 human [Q96L50-1]

Organism-specific databases

CTDi122769
DisGeNETi122769
EuPathDBiHostDB:ENSG00000165501.16
GeneCardsiLRR1
H-InvDBiHIX0037761
HGNCiHGNC:19742 LRR1
HPAiHPA065703
HPA069364
MIMi609193 gene
neXtProtiNX_Q96L50
OpenTargetsiENSG00000165501
PharmGKBiPA134915321
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00920000149087
HOGENOMiHOG000273865
HOVERGENiHBG045576
InParanoidiQ96L50
KOiK10348
OMAiLVDNMGG
OrthoDBiEOG091G0F7R
PhylomeDBiQ96L50
TreeFamiTF319257

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

GenomeRNAii122769
PROiPR:Q96L50
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165501 Expressed in 158 organ(s), highest expression level in testis
CleanExiHS_PPIL5
ExpressionAtlasiQ96L50 baseline and differential
GenevisibleiQ96L50 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR025875 Leu-rich_rpt_4
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF12799 LRR_4, 1 hit
PF13516 LRR_6, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 4 hits
PROSITEiView protein in PROSITE
PS51450 LRR, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLLR1_HUMAN
AccessioniPrimary (citable) accession number: Q96L50
Secondary accession number(s): A5D6X3
, B4DDE0, Q52M24, Q86SZ1, Q8N6H9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: November 7, 2018
This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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