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Protein

Leucine-rich repeat-containing protein 18

Gene

LRRC18

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

Functioni

May be involved in the regulation of spermatogenesis and sperm maturation.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 18
Gene namesi
Name:LRRC18
ORF Names:UNQ9338/PRO34010
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000165383.10.
HGNCiHGNC:23199. LRRC18.

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000165383.
PharmGKBiPA134898691.

Polymorphism and mutation databases

BioMutaiLRRC18.
DMDMi116242619.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844721 – 261Leucine-rich repeat-containing protein 18Add BLAST261

Proteomic databases

MaxQBiQ8N456.
PaxDbiQ8N456.
PeptideAtlasiQ8N456.
PRIDEiQ8N456.

PTM databases

iPTMnetiQ8N456.
PhosphoSitePlusiQ8N456.

Expressioni

Gene expression databases

BgeeiENSG00000165383.
CleanExiHS_LRRC18.
GenevisibleiQ8N456. HS.

Organism-specific databases

HPAiHPA039256.

Interactioni

Protein-protein interaction databases

BioGridi138880. 1 interactor.
IntActiQ8N456. 5 interactors.
MINTiMINT-1485571.
STRINGi9606.ENSP00000363275.

Structurei

3D structure databases

ProteinModelPortaliQ8N456.
SMRiQ8N456.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati28 – 49LRR 1Add BLAST22
Repeati51 – 72LRR 2Add BLAST22
Repeati74 – 95LRR 3Add BLAST22
Repeati97 – 118LRR 4Add BLAST22
Repeati122 – 144LRR 5Add BLAST23
Repeati145 – 167LRR 6Add BLAST23
Repeati168 – 189LRR 7Add BLAST22

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00900000140805.
HOGENOMiHOG000113366.
HOVERGENiHBG056513.
InParanoidiQ8N456.
OMAiKRNPFPK.
OrthoDBiEOG091G0EHN.
PhylomeDBiQ8N456.
TreeFamiTF331129.

Family and domain databases

Gene3Di3.80.10.10. 2 hits.
InterProiView protein in InterPro
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR032675. LRR_dom_sf.
PfamiView protein in Pfam
PF13855. LRR_8. 1 hit.
SMARTiView protein in SMART
SM00369. LRR_TYP. 4 hits.
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiView protein in PROSITE
PS51450. LRR. 5 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N456-1) [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
MVKGEKGPKG KKITLKVARN CIKITFDGKK RLDLSKMGIT TFPKCILRLS
60 70 80 90 100
DMDELDLSRN LIRKIPDSIS KFQNLRWLDL HSNYIDKLPE SIGQMTSLLY
110 120 130 140 150
LNVSNNRLTS NGLPVELKQL KNIRAVNLGL NHLDSVPTTL GALKELHEVG
160 170 180 190 200
LHDNLLNNIP VSISKLPKLK KLNIKRNPFP KPGESEIFID SIRRLENLYV
210 220 230 240 250
VEEKDLCAAC LRKCQNARDN LNRIKNMATT TPRKTIFPNL ISPNSMAKDS
260
WEDWRIRLTS S
Length:261
Mass (Da):29,737
Last modified:October 17, 2006 - v2
Checksum:i209F1CFC422B1701
GO
Isoform 2 (identifier: Q8N456-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     256-261: Missing.

Show »
Length:255
Mass (Da):29,079
Checksum:i47016B445DD74D82
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti137P → S in AAH36722 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0281617G → V. Corresponds to variant dbSNP:rs7094610Ensembl.1
Natural variantiVAR_02816231R → H. Corresponds to variant dbSNP:rs17772611Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015740256 – 261Missing in isoform 2. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358137 mRNA. Translation: AAQ88504.1.
BC036722 mRNA. Translation: AAH36722.1.
CCDSiCCDS31197.1. [Q8N456-1]
RefSeqiNP_001006940.3. NM_001006939.3. [Q8N456-1]
XP_006717930.1. XM_006717867.2. [Q8N456-1]
XP_011538124.1. XM_011539822.1. [Q8N456-1]
XP_011538125.1. XM_011539823.1. [Q8N456-1]
XP_011538128.1. XM_011539826.2. [Q8N456-1]
XP_011538130.1. XM_011539828.2. [Q8N456-1]
XP_011538131.1. XM_011539829.2. [Q8N456-1]
XP_016871765.1. XM_017016276.1. [Q8N456-1]
XP_016871766.1. XM_017016277.1. [Q8N456-1]
UniGeneiHs.202438.

Genome annotation databases

EnsembliENST00000374160; ENSP00000363275; ENSG00000165383. [Q8N456-1]
GeneIDi474354.
KEGGihsa:474354.
UCSCiuc001jhd.4. human. [Q8N456-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRC18_HUMAN
AccessioniPrimary (citable) accession number: Q8N456
Secondary accession number(s): Q6UY02
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: October 17, 2006
Last modified: November 22, 2017
This is version 133 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 chromosome 10
    Human chromosome 10: 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