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Q8N456

- LRC18_HUMAN

UniProt

Q8N456 - LRC18_HUMAN

Protein

Leucine-rich repeat-containing protein 18

Gene

LRRC18

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23199. LRRC18.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134898691.

    PTM / Processingi

    Molecule processing

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

    Proteomic databases

    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 25-233.
    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.
    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. Align

    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

    MVKGEKGPKG KKITLKVARN CIKITFDGKK RLDLSKMGIT TFPKCILRLS    50
    DMDELDLSRN LIRKIPDSIS KFQNLRWLDL HSNYIDKLPE SIGQMTSLLY 100
    LNVSNNRLTS NGLPVELKQL KNIRAVNLGL NHLDSVPTTL GALKELHEVG 150
    LHDNLLNNIP VSISKLPKLK KLNIKRNPFP KPGESEIFID SIRRLENLYV 200
    VEEKDLCAAC LRKCQNARDN LNRIKNMATT TPRKTIFPNL ISPNSMAKDS 250
    WEDWRIRLTS S 261
    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:
    EMBL
    GenBank
    DDBJ
    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_006717867.1. [Q8N456-1]
    XP_006717931.1. XM_006717868.1. [Q8N456-2]
    UniGeneiHs.202438.

    Genome annotation databases

    EnsembliENST00000298124; ENSP00000298124; ENSG00000165383. [Q8N456-2]
    ENST00000374160; ENSP00000363275; ENSG00000165383. [Q8N456-1]
    GeneIDi474354.
    KEGGihsa:474354.
    UCSCiuc001jhd.3. human. [Q8N456-1]

    Polymorphism databases

    DMDMi116242619.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358137 mRNA. Translation: AAQ88504.1 .
    BC036722 mRNA. Translation: AAH36722.1 .
    CCDSi CCDS31197.1. [Q8N456-1 ]
    RefSeqi NP_001006940.3. NM_001006939.3. [Q8N456-1 ]
    XP_006717930.1. XM_006717867.1. [Q8N456-1 ]
    XP_006717931.1. XM_006717868.1. [Q8N456-2 ]
    UniGenei Hs.202438.

    3D structure databases

    ProteinModelPortali Q8N456.
    SMRi Q8N456. Positions 25-233.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 138880. 1 interaction.
    IntActi Q8N456. 2 interactions.
    MINTi MINT-1485571.
    STRINGi 9606.ENSP00000298124.

    PTM databases

    PhosphoSitei Q8N456.

    Polymorphism databases

    DMDMi 116242619.

    Proteomic databases

    PaxDbi Q8N456.
    PRIDEi Q8N456.

    Protocols and materials databases

    DNASUi 474354.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298124 ; ENSP00000298124 ; ENSG00000165383 . [Q8N456-2 ]
    ENST00000374160 ; ENSP00000363275 ; ENSG00000165383 . [Q8N456-1 ]
    GeneIDi 474354.
    KEGGi hsa:474354.
    UCSCi uc001jhd.3. human. [Q8N456-1 ]

    Organism-specific databases

    CTDi 474354.
    GeneCardsi GC10M050117.
    H-InvDB HIX0026080.
    HGNCi HGNC:23199. LRRC18.
    HPAi HPA039256.
    neXtProti NX_Q8N456.
    PharmGKBi PA134898691.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    HOGENOMi HOG000113366.
    HOVERGENi HBG056513.
    InParanoidi Q8N456.
    OMAi KRNPFPK.
    OrthoDBi EOG79W960.
    PhylomeDBi Q8N456.
    TreeFami TF331129.

    Miscellaneous databases

    GenomeRNAii 474354.
    NextBioi 111696.
    PROi Q8N456.

    Gene expression databases

    Bgeei Q8N456.
    CleanExi HS_LRRC18.
    Genevestigatori Q8N456.

    Family and domain databases

    InterProi IPR001611. Leu-rich_rpt.
    IPR025875. Leu-rich_rpt_4.
    [Graphical view ]
    Pfami PF00560. LRR_1. 1 hit.
    PF12799. LRR_4. 1 hit.
    [Graphical view ]
    PROSITEi PS51450. LRR. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    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: October 1, 2014
    This is version 103 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