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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

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
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23199. LRRC18.

Subcellular locationi

  1. Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134898691.

Polymorphism and mutation databases

BioMutaiLRRC18.
DMDMi116242619.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 261261Leucine-rich repeat-containing protein 18PRO_0000084472Add
BLAST

Proteomic databases

MaxQBiQ8N456.
PaxDbiQ8N456.
PRIDEiQ8N456.

PTM databases

PhosphoSiteiQ8N456.

Expressioni

Gene expression databases

BgeeiQ8N456.
CleanExiHS_LRRC18.
GenevestigatoriQ8N456.

Organism-specific databases

HPAiHPA039256.

Interactioni

Protein-protein interaction databases

BioGridi138880. 1 interaction.
IntActiQ8N456. 2 interactions.
MINTiMINT-1485571.
STRINGi9606.ENSP00000298124.

Structurei

3D structure databases

ProteinModelPortaliQ8N456.
SMRiQ8N456. Positions 31-177.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati28 – 4922LRR 1Add
BLAST
Repeati51 – 7222LRR 2Add
BLAST
Repeati74 – 9522LRR 3Add
BLAST
Repeati97 – 11822LRR 4Add
BLAST
Repeati122 – 14423LRR 5Add
BLAST
Repeati145 – 16723LRR 6Add
BLAST
Repeati168 – 18922LRR 7Add
BLAST

Sequence similaritiesi

Contains 7 LRR (leucine-rich) repeats.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiCOG4886.
GeneTreeiENSGT00780000121839.
HOGENOMiHOG000113366.
HOVERGENiHBG056513.
InParanoidiQ8N456.
OMAiKRNPFPK.
OrthoDBiEOG79W960.
PhylomeDBiQ8N456.
TreeFamiTF331129.

Family and domain databases

InterProiIPR001611. Leu-rich_rpt.
IPR025875. Leu-rich_rpt_4.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF12799. LRR_4. 1 hit.
[Graphical view]
PROSITEiPS51450. LRR. 5 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti137 – 1371P → S in AAH36722 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71G → V.
Corresponds to variant rs7094610 [ dbSNP | Ensembl ].
VAR_028161
Natural varianti31 – 311R → H.
Corresponds to variant rs17772611 [ dbSNP | Ensembl ].
VAR_028162

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei256 – 2616Missing in isoform 2. 1 PublicationVSP_015740

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]
UniGeneiHs.202438.

Genome annotation databases

EnsembliENST00000298124; ENSP00000298124; ENSG00000165383. [Q8N456-1]
ENST00000374160; ENSP00000363275; ENSG00000165383. [Q8N456-1]
GeneIDi474354.
KEGGihsa:474354.
UCSCiuc001jhd.3. human. [Q8N456-1]

Polymorphism and mutation databases

BioMutaiLRRC18.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
UniGeneiHs.202438.

3D structure databases

ProteinModelPortaliQ8N456.
SMRiQ8N456. Positions 31-177.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi138880. 1 interaction.
IntActiQ8N456. 2 interactions.
MINTiMINT-1485571.
STRINGi9606.ENSP00000298124.

PTM databases

PhosphoSiteiQ8N456.

Polymorphism and mutation databases

BioMutaiLRRC18.
DMDMi116242619.

Proteomic databases

MaxQBiQ8N456.
PaxDbiQ8N456.
PRIDEiQ8N456.

Protocols and materials databases

DNASUi474354.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298124; ENSP00000298124; ENSG00000165383. [Q8N456-1]
ENST00000374160; ENSP00000363275; ENSG00000165383. [Q8N456-1]
GeneIDi474354.
KEGGihsa:474354.
UCSCiuc001jhd.3. human. [Q8N456-1]

Organism-specific databases

CTDi474354.
GeneCardsiGC10M050117.
H-InvDBHIX0026080.
HGNCiHGNC:23199. LRRC18.
HPAiHPA039256.
neXtProtiNX_Q8N456.
PharmGKBiPA134898691.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG4886.
GeneTreeiENSGT00780000121839.
HOGENOMiHOG000113366.
HOVERGENiHBG056513.
InParanoidiQ8N456.
OMAiKRNPFPK.
OrthoDBiEOG79W960.
PhylomeDBiQ8N456.
TreeFamiTF331129.

Miscellaneous databases

GenomeRNAii474354.
NextBioi111696.
PROiQ8N456.

Gene expression databases

BgeeiQ8N456.
CleanExiHS_LRRC18.
GenevestigatoriQ8N456.

Family and domain databases

InterProiIPR001611. Leu-rich_rpt.
IPR025875. Leu-rich_rpt_4.
[Graphical view]
PfamiPF00560. LRR_1. 1 hit.
PF12799. LRR_4. 1 hit.
[Graphical view]
PROSITEiPS51450. LRR. 5 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.

Entry informationi

Entry nameiLRC18_HUMAN
AccessioniPrimary (citable) accession number: Q8N456
Secondary accession number(s): Q6UY02
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: October 17, 2006
Last modified: April 29, 2015
This is version 109 of the entry and version 2 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 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
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.