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Q569H4

- LARGN_HUMAN

UniProt

Q569H4 - LARGN_HUMAN

Protein

Protein Largen

Gene

PRR16

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 66 (01 Oct 2014)
      Sequence version 1 (10 May 2005)
      Previous versions | rss
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    Functioni

    Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration.1 Publication

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Largen
    Alternative name(s):
    Mesenchymal stem cell protein DSC54
    Proline-rich protein 16
    Gene namesi
    Name:PRR16
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:29654. PRR16.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162400155.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 304304Protein LargenPRO_0000308159Add
    BLAST

    Proteomic databases

    PaxDbiQ569H4.
    PRIDEiQ569H4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ569H4.
    BgeeiQ569H4.
    CleanExiHS_PRR16.
    GenevestigatoriQ569H4.

    Organism-specific databases

    HPAiHPA049254.

    Interactioni

    Protein-protein interaction databases

    BioGridi119481. 5 interactions.
    IntActiQ569H4. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ569H4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili33 – 7038Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi102 – 291190Pro-richAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG44576.
    HOGENOMiHOG000015766.
    HOVERGENiHBG100197.
    InParanoidiQ569H4.
    OMAiVQPLMHR.
    OrthoDBiEOG76473X.
    PhylomeDBiQ569H4.
    TreeFamiTF332746.

    Family and domain databases

    InterProiIPR027997. DUF4589.
    [Graphical view]
    PfamiPF15252. DUF4589. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q569H4-1) [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

    MSAKSKGNPS SSCPAEGPPA ASKTKVKEQI KIIVEDLELV LGDLKDVAKE    50
    LKEVVDQIDT LTSDLQLEDE MTDSSKTDTL NSSSSGTTAS SLEKIKVQAN 100
    APLIKPPAHP SAILTVLRKP NPPPPPPRLT PVKCEDPKRV VPTANPVKTN 150
    GTLLRNGGLP GGPNKIPNGD ICCIPNSNLD KAPVQLLMHR PEKDRCPQAG 200
    PRERVRFNEK VQYHGYCPDC DTRYNIKNRE VHLHSEPVHP PGKIPHQGPP 250
    LPPTPHLPPF PLENGGMGIS HSNSFPPIRP ATVPPPTAPK PQKTILRKST 300
    TTTV 304
    Length:304
    Mass (Da):32,812
    Last modified:May 10, 2005 - v1
    Checksum:i42FF6EFF0AE2D2BF
    GO
    Isoform 2 (identifier: Q569H4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-70: Missing.

    Show »
    Length:234
    Mass (Da):25,306
    Checksum:i753AD3C385F6E865
    GO
    Isoform 3 (identifier: Q569H4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-53: MSAKSKGNPS...LKDVAKELKE → MAQSGLTATSASQVQAILLPQPASVRHYAW

    Note: No experimental confirmation available.

    Show »
    Length:281
    Mass (Da):30,387
    Checksum:i3BA8E7A63DCB8F24
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti110 – 1101P → T.1 Publication
    Corresponds to variant rs17853861 [ dbSNP | Ensembl ].
    VAR_061694

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7070Missing in isoform 2. 1 PublicationVSP_028880Add
    BLAST
    Alternative sequencei1 – 5353MSAKS…KELKE → MAQSGLTATSASQVQAILLP QPASVRHYAW in isoform 3. 1 PublicationVSP_028881Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF242769 mRNA. Translation: AAF65446.1.
    CH471086 Genomic DNA. Translation: EAW48904.1.
    CH471086 Genomic DNA. Translation: EAW48906.1.
    BC038838 mRNA. Translation: AAH38838.1.
    BC092474 mRNA. Translation: AAH92474.1.
    CCDSiCCDS4127.1. [Q569H4-3]
    RefSeqiNP_057728.1. NM_016644.1. [Q569H4-3]
    XP_005272067.1. XM_005272010.1. [Q569H4-1]
    XP_005272069.1. XM_005272012.1. [Q569H4-2]
    UniGeneiHs.157461.

    Genome annotation databases

    EnsembliENST00000379551; ENSP00000368869; ENSG00000184838. [Q569H4-3]
    ENST00000407149; ENSP00000385118; ENSG00000184838. [Q569H4-1]
    ENST00000446965; ENSP00000405491; ENSG00000184838. [Q569H4-2]
    ENST00000505123; ENSP00000423446; ENSG00000184838. [Q569H4-2]
    GeneIDi51334.
    KEGGihsa:51334.
    UCSCiuc003ksp.3. human. [Q569H4-3]
    uc003ksq.3. human. [Q569H4-1]

    Polymorphism databases

    DMDMi74735958.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF242769 mRNA. Translation: AAF65446.1 .
    CH471086 Genomic DNA. Translation: EAW48904.1 .
    CH471086 Genomic DNA. Translation: EAW48906.1 .
    BC038838 mRNA. Translation: AAH38838.1 .
    BC092474 mRNA. Translation: AAH92474.1 .
    CCDSi CCDS4127.1. [Q569H4-3 ]
    RefSeqi NP_057728.1. NM_016644.1. [Q569H4-3 ]
    XP_005272067.1. XM_005272010.1. [Q569H4-1 ]
    XP_005272069.1. XM_005272012.1. [Q569H4-2 ]
    UniGenei Hs.157461.

    3D structure databases

    ProteinModelPortali Q569H4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119481. 5 interactions.
    IntActi Q569H4. 1 interaction.

    Polymorphism databases

    DMDMi 74735958.

    Proteomic databases

    PaxDbi Q569H4.
    PRIDEi Q569H4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000379551 ; ENSP00000368869 ; ENSG00000184838 . [Q569H4-3 ]
    ENST00000407149 ; ENSP00000385118 ; ENSG00000184838 . [Q569H4-1 ]
    ENST00000446965 ; ENSP00000405491 ; ENSG00000184838 . [Q569H4-2 ]
    ENST00000505123 ; ENSP00000423446 ; ENSG00000184838 . [Q569H4-2 ]
    GeneIDi 51334.
    KEGGi hsa:51334.
    UCSCi uc003ksp.3. human. [Q569H4-3 ]
    uc003ksq.3. human. [Q569H4-1 ]

    Organism-specific databases

    CTDi 51334.
    GeneCardsi GC05P119828.
    HGNCi HGNC:29654. PRR16.
    HPAi HPA049254.
    neXtProti NX_Q569H4.
    PharmGKBi PA162400155.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44576.
    HOGENOMi HOG000015766.
    HOVERGENi HBG100197.
    InParanoidi Q569H4.
    OMAi VQPLMHR.
    OrthoDBi EOG76473X.
    PhylomeDBi Q569H4.
    TreeFami TF332746.

    Miscellaneous databases

    GenomeRNAii 51334.
    NextBioi 54755.
    PROi Q569H4.

    Gene expression databases

    ArrayExpressi Q569H4.
    Bgeei Q569H4.
    CleanExi HS_PRR16.
    Genevestigatori Q569H4.

    Family and domain databases

    InterProi IPR027997. DUF4589.
    [Graphical view ]
    Pfami PF15252. DUF4589. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA DSC54 expressed by osteogenic human mesenchymal stem cells."
      van den Bos C., Mbalaviele G., Thiede M.
      Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 1 AND 2), VARIANT THR-110.
      Tissue: Brain and Placenta.
    4. Cited for: FUNCTION.

    Entry informationi

    Entry nameiLARGN_HUMAN
    AccessioniPrimary (citable) accession number: Q569H4
    Secondary accession number(s): D3DSZ0, Q8IXY1, Q9NYI5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 66 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

    Miscellaneous

    Was named 'Largen' because overexpression causes cells enlargement.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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

    External Data

    Dasty 3