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Protein

Leucine-rich repeat-containing protein 1

Gene

LRRC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137269-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 1
Alternative name(s):
LANO adapter protein
LAP and no PDZ protein
Gene namesi
Name:LRRC1
Synonyms:LANO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:14307. LRRC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000137269.
PharmGKBiPA30460.

Polymorphism and mutation databases

BioMutaiLRRC1.
DMDMi50401149.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844891 – 524Leucine-rich repeat-containing protein 1Add BLAST524

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei480PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BTT6.
MaxQBiQ9BTT6.
PaxDbiQ9BTT6.
PeptideAtlasiQ9BTT6.
PRIDEiQ9BTT6.

PTM databases

iPTMnetiQ9BTT6.
PhosphoSitePlusiQ9BTT6.
SwissPalmiQ9BTT6.

Expressioni

Tissue specificityi

Expressed strongly in testis and placenta, followed by heart, lung, kidney, thyroid, trachea, colon, prostate and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000137269.
CleanExiHS_LRRC1.
ExpressionAtlasiQ9BTT6. baseline and differential.
GenevisibleiQ9BTT6. HS.

Organism-specific databases

HPAiHPA031602.
HPA031603.
HPA031604.

Interactioni

Subunit structurei

Interacts with DLG1 and DLG4. May form a complex with DLG1 and ERBIN, where interaction between LRRC1 and ERBIN is indirect.1 Publication

Protein-protein interaction databases

BioGridi120522. 24 interactors.
IntActiQ9BTT6. 11 interactors.
MINTiMINT-1423850.
STRINGi9606.ENSP00000359925.

Structurei

3D structure databases

ProteinModelPortaliQ9BTT6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati11 – 34LRR 1Add BLAST24
Repeati35 – 58LRR 2Add BLAST24
Repeati60 – 81LRR 3Add BLAST22
Repeati83 – 105LRR 4Add BLAST23
Repeati107 – 126LRR 5Add BLAST20
Repeati127 – 149LRR 6Add BLAST23
Repeati150 – 172LRR 7Add BLAST23
Repeati173 – 196LRR 8Add BLAST24
Repeati198 – 218LRR 9Add BLAST21
Repeati219 – 242LRR 10Add BLAST24
Repeati244 – 264LRR 11Add BLAST21
Repeati265 – 288LRR 12Add BLAST24
Repeati290 – 310LRR 13Add BLAST21
Repeati311 – 334LRR 14Add BLAST24
Repeati336 – 356LRR 15Add BLAST21
Repeati357 – 380LRR 16Add BLAST24
Repeati382 – 405LRR 17Add BLAST24

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili484 – 512Sequence analysisAdd BLAST29

Sequence similaritiesi

Contains 17 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410KCZ0. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000116557.
HOVERGENiHBG052357.
InParanoidiQ9BTT6.
OMAiHPGELKS.
OrthoDBiEOG091G01EF.
PhylomeDBiQ9BTT6.
TreeFamiTF351429.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 16 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BTT6-1) [UniParc]FASTAAdd to basket

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
MFHCIPLWRC NRHVESIDKR HCSLVYVPEE IYRYARSLEE LLLDANQLRE
60 70 80 90 100
LPEQFFQLVK LRKLGLSDNE IQRLPPEIAN FMQLVELDVS RNEIPEIPES
110 120 130 140 150
ISFCKALQVA DFSGNPLTRL PESFPELQNL TCLSVNDISL QSLPENIGNL
160 170 180 190 200
YNLASLELRE NLLTYLPDSL TQLRRLEELD LGNNEIYNLP ESIGALLHLK
210 220 230 240 250
DLWLDGNQLS ELPQEIGNLK NLLCLDVSEN RLERLPEEIS GLTSLTDLVI
260 270 280 290 300
SQNLLETIPD GIGKLKKLSI LKVDQNRLTQ LPEAVGECES LTELVLTENQ
310 320 330 340 350
LLTLPKSIGK LKKLSNLNAD RNKLVSLPKE IGGCCSLTVF CVRDNRLTRI
360 370 380 390 400
PAEVSQATEL HVLDVAGNRL LHLPLSLTAL KLKALWLSDN QSQPLLTFQT
410 420 430 440 450
DTDYTTGEKI LTCVLLPQLP SEPTCQENLP RCGALENLVN DVSDEAWNER
460 470 480 490 500
AVNRVSAIRF VEDEKDEEDN ETRTLLRRAT PHPGELKHMK KTVENLRNDM
510 520
NAAKGLDSNK NEVNHAIDRV TTSV
Length:524
Mass (Da):59,242
Last modified:June 1, 2001 - v1
Checksum:iB40251635C90469C
GO
Isoform 2 (identifier: Q9BTT6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     190-197: PESIGALL → NQLEPSYI
     198-524: Missing.

Note: No experimental confirmation available.
Show »
Length:197
Mass (Da):22,943
Checksum:iEFDCA28B2728D580
GO

Sequence cautioni

The sequence BAA91801 differs from that shown. Reason: Frameshift at position 262.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019431193I → V.1 PublicationCorresponds to variant rs9349688dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_010912190 – 197PESIGALL → NQLEPSYI in isoform 2. 1 Publication8
Alternative sequenceiVSP_010913198 – 524Missing in isoform 2. 1 PublicationAdd BLAST327

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359380 mRNA. Translation: AAK72246.1.
AF332199 mRNA. Translation: AAK69623.1.
AK021896 mRNA. Translation: BAB13929.1.
AK001637 mRNA. Translation: BAA91801.1. Frameshift.
AL513211, AL033384 Genomic DNA. Translation: CAI17358.1.
AL033384, AL513211 Genomic DNA. Translation: CAI21666.1.
CH471081 Genomic DNA. Translation: EAX04430.1.
BC003193 mRNA. Translation: AAH03193.1.
CCDSiCCDS4953.2. [Q9BTT6-1]
RefSeqiNP_060684.4. NM_018214.4. [Q9BTT6-1]
XP_011513028.1. XM_011514726.2. [Q9BTT6-1]
UniGeneiHs.606493.
Hs.646997.

Genome annotation databases

EnsembliENST00000370888; ENSP00000359925; ENSG00000137269. [Q9BTT6-1]
ENST00000487251; ENSP00000435217; ENSG00000137269. [Q9BTT6-2]
GeneIDi55227.
KEGGihsa:55227.
UCSCiuc003pcd.2. human. [Q9BTT6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359380 mRNA. Translation: AAK72246.1.
AF332199 mRNA. Translation: AAK69623.1.
AK021896 mRNA. Translation: BAB13929.1.
AK001637 mRNA. Translation: BAA91801.1. Frameshift.
AL513211, AL033384 Genomic DNA. Translation: CAI17358.1.
AL033384, AL513211 Genomic DNA. Translation: CAI21666.1.
CH471081 Genomic DNA. Translation: EAX04430.1.
BC003193 mRNA. Translation: AAH03193.1.
CCDSiCCDS4953.2. [Q9BTT6-1]
RefSeqiNP_060684.4. NM_018214.4. [Q9BTT6-1]
XP_011513028.1. XM_011514726.2. [Q9BTT6-1]
UniGeneiHs.606493.
Hs.646997.

3D structure databases

ProteinModelPortaliQ9BTT6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120522. 24 interactors.
IntActiQ9BTT6. 11 interactors.
MINTiMINT-1423850.
STRINGi9606.ENSP00000359925.

PTM databases

iPTMnetiQ9BTT6.
PhosphoSitePlusiQ9BTT6.
SwissPalmiQ9BTT6.

Polymorphism and mutation databases

BioMutaiLRRC1.
DMDMi50401149.

Proteomic databases

EPDiQ9BTT6.
MaxQBiQ9BTT6.
PaxDbiQ9BTT6.
PeptideAtlasiQ9BTT6.
PRIDEiQ9BTT6.

Protocols and materials databases

DNASUi55227.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370888; ENSP00000359925; ENSG00000137269. [Q9BTT6-1]
ENST00000487251; ENSP00000435217; ENSG00000137269. [Q9BTT6-2]
GeneIDi55227.
KEGGihsa:55227.
UCSCiuc003pcd.2. human. [Q9BTT6-1]

Organism-specific databases

CTDi55227.
GeneCardsiLRRC1.
HGNCiHGNC:14307. LRRC1.
HPAiHPA031602.
HPA031603.
HPA031604.
MIMi608195. gene.
neXtProtiNX_Q9BTT6.
OpenTargetsiENSG00000137269.
PharmGKBiPA30460.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCZ0. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000116557.
HOVERGENiHBG052357.
InParanoidiQ9BTT6.
OMAiHPGELKS.
OrthoDBiEOG091G01EF.
PhylomeDBiQ9BTT6.
TreeFamiTF351429.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137269-MONOMER.

Miscellaneous databases

ChiTaRSiLRRC1. human.
GenomeRNAii55227.
PROiQ9BTT6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137269.
CleanExiHS_LRRC1.
ExpressionAtlasiQ9BTT6. baseline and differential.
GenevisibleiQ9BTT6. HS.

Family and domain databases

Gene3Di3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamiPF13855. LRR_8. 3 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 16 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRRC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BTT6
Secondary accession number(s): Q5TGN3, Q9HAC0, Q9NVF1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 135 of the entry and version 1 of the sequence. [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 chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.