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Protein

Leucine-rich repeat-containing protein 40

Gene

LRRC40

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000066557-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 40
Gene namesi
Name:LRRC40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26004. LRRC40.

Subcellular locationi

GO - Cellular componenti

  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000066557.
PharmGKBiPA142671528.

Polymorphism and mutation databases

BioMutaiLRRC40.
DMDMi74761553.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002262571 – 602Leucine-rich repeat-containing protein 40Add BLAST602

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei71PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H9A6.
MaxQBiQ9H9A6.
PaxDbiQ9H9A6.
PeptideAtlasiQ9H9A6.
PRIDEiQ9H9A6.

2D gel databases

REPRODUCTION-2DPAGEIPI00152998.

PTM databases

iPTMnetiQ9H9A6.
PhosphoSitePlusiQ9H9A6.

Expressioni

Gene expression databases

BgeeiENSG00000066557.
CleanExiHS_LRRC40.
ExpressionAtlasiQ9H9A6. baseline and differential.
GenevisibleiQ9H9A6. HS.

Organism-specific databases

HPAiHPA026564.

Interactioni

Protein-protein interaction databases

BioGridi120770. 26 interactors.
IntActiQ9H9A6. 6 interactors.
MINTiMINT-7944638.
STRINGi9606.ENSP00000359990.

Structurei

3D structure databases

ProteinModelPortaliQ9H9A6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati83 – 104LRR 1Add BLAST22
Repeati106 – 127LRR 2Add BLAST22
Repeati129 – 150LRR 3Add BLAST22
Repeati152 – 173LRR 4Add BLAST22
Repeati175 – 196LRR 5Add BLAST22
Repeati198 – 219LRR 6Add BLAST22
Repeati221 – 242LRR 7Add BLAST22
Repeati244 – 265LRR 8Add BLAST22
Repeati266 – 286LRR 9Add BLAST21
Repeati290 – 311LRR 10Add BLAST22
Repeati313 – 335LRR 11Add BLAST23
Repeati336 – 356LRR 12Add BLAST21
Repeati400 – 421LRR 13Add BLAST22
Repeati426 – 447LRR 14Add BLAST22
Repeati450 – 472LRR 15Add BLAST23
Repeati473 – 494LRR 16Add BLAST22
Repeati496 – 517LRR 17Add BLAST22
Repeati519 – 540LRR 18Add BLAST22
Repeati543 – 564LRR 19Add BLAST22
Repeati566 – 586LRR 20Add BLAST21

Sequence similaritiesi

Contains 20 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0472. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000005761.
HOVERGENiHBG081930.
InParanoidiQ9H9A6.
OMAiYHISTLE.
OrthoDBiEOG091G061A.
PhylomeDBiQ9H9A6.
TreeFamiTF354310.

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. 4 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 17 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H9A6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRLKRIAGQ DLRAGFKAGG RDCGTSVPQG LLKAARKSGQ LNLSGRNLSE
60 70 80 90 100
VPQCVWRINV DIPEEANQNL SFGATERWWE QTDLTKLIIS NNKLQSLTDD
110 120 130 140 150
LRLLPALTVL DIHDNQLTSL PSAIRELENL QKLNVSHNKL KILPEEITNL
160 170 180 190 200
RNLKCLYLQH NELTCISEGF EQLSNLEDLD LSNNHLTTVP ASFSSLSSLV
210 220 230 240 250
RLNLSSNELK SLPAEINRMK RLKHLDCNSN LLETIPPELA GMESLELLYL
260 270 280 290 300
RRNKLRFLPE FPSCSLLKEL HVGENQIEML EAEHLKHLNS ILVLDLRDNK
310 320 330 340 350
LKSVPDEIIL LRSLERLDLS NNDISSLPYS LGNLHLKFLA LEGNPLRTIR
360 370 380 390 400
REIISKGTQE VLKYLRSKIK DDGPSQSESA TETAMTLPSE SRVNIHAIIT
410 420 430 440 450
LKILDYSDKQ ATLIPDEVFD AVKSNIVTSI NFSKNQLCEI PKRMVELKEM
460 470 480 490 500
VSDVDLSFNK LSFISLELCV LQKLTFLDLR NNFLNSLPEE MESLVRLQTI
510 520 530 540 550
NLSFNRFKML PEVLYRIFTL ETILISNNQV GSVDPQKMKM MENLTTLDLQ
560 570 580 590 600
NNDLLQIPPE LGNCVNLRTL LLDGNPFRVP RAAILMKGTA AILEYLRDRI

PT
Length:602
Mass (Da):68,250
Last modified:March 1, 2001 - v1
Checksum:iBB126CAC02749C8A
GO

Sequence cautioni

The sequence BAA91094 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti368K → T in BAA91094 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03408853Q → P.Corresponds to variant rs270495dbSNPEnsembl.1
Natural variantiVAR_034089500I → V.Corresponds to variant rs3180401dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000338 mRNA. Translation: BAA91094.1. Different initiation.
AK022951 mRNA. Translation: BAB14326.1.
AL353771 Genomic DNA. Translation: CAI22332.1.
BC003407 mRNA. Translation: AAH03407.2.
BC008586 mRNA. Translation: AAH08586.1.
AL162076 mRNA. Translation: CAB82410.1.
CCDSiCCDS646.1.
PIRiT47176.
RefSeqiNP_060238.3. NM_017768.4.
UniGeneiHs.147836.

Genome annotation databases

EnsembliENST00000370952; ENSP00000359990; ENSG00000066557.
GeneIDi55631.
KEGGihsa:55631.
UCSCiuc001der.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000338 mRNA. Translation: BAA91094.1. Different initiation.
AK022951 mRNA. Translation: BAB14326.1.
AL353771 Genomic DNA. Translation: CAI22332.1.
BC003407 mRNA. Translation: AAH03407.2.
BC008586 mRNA. Translation: AAH08586.1.
AL162076 mRNA. Translation: CAB82410.1.
CCDSiCCDS646.1.
PIRiT47176.
RefSeqiNP_060238.3. NM_017768.4.
UniGeneiHs.147836.

3D structure databases

ProteinModelPortaliQ9H9A6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120770. 26 interactors.
IntActiQ9H9A6. 6 interactors.
MINTiMINT-7944638.
STRINGi9606.ENSP00000359990.

PTM databases

iPTMnetiQ9H9A6.
PhosphoSitePlusiQ9H9A6.

Polymorphism and mutation databases

BioMutaiLRRC40.
DMDMi74761553.

2D gel databases

REPRODUCTION-2DPAGEIPI00152998.

Proteomic databases

EPDiQ9H9A6.
MaxQBiQ9H9A6.
PaxDbiQ9H9A6.
PeptideAtlasiQ9H9A6.
PRIDEiQ9H9A6.

Protocols and materials databases

DNASUi55631.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370952; ENSP00000359990; ENSG00000066557.
GeneIDi55631.
KEGGihsa:55631.
UCSCiuc001der.3. human.

Organism-specific databases

CTDi55631.
GeneCardsiLRRC40.
HGNCiHGNC:26004. LRRC40.
HPAiHPA026564.
neXtProtiNX_Q9H9A6.
OpenTargetsiENSG00000066557.
PharmGKBiPA142671528.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0472. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOGENOMiHOG000005761.
HOVERGENiHBG081930.
InParanoidiQ9H9A6.
OMAiYHISTLE.
OrthoDBiEOG091G061A.
PhylomeDBiQ9H9A6.
TreeFamiTF354310.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000066557-MONOMER.

Miscellaneous databases

ChiTaRSiLRRC40. human.
GeneWikiiLRRC40.
GenomeRNAii55631.
PROiQ9H9A6.

Gene expression databases

BgeeiENSG00000066557.
CleanExiHS_LRRC40.
ExpressionAtlasiQ9H9A6. baseline and differential.
GenevisibleiQ9H9A6. 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. 4 hits.
[Graphical view]
SMARTiSM00369. LRR_TYP. 13 hits.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 2 hits.
PROSITEiPS51450. LRR. 17 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRC40_HUMAN
AccessioniPrimary (citable) accession number: Q9H9A6
Secondary accession number(s): Q9BTR7, Q9NSK1, Q9NXC1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 145 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 1
    Human chromosome 1: 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. 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.