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Q16799

- RTN1_HUMAN

UniProt

Q16799 - RTN1_HUMAN

Protein

Reticulon-1

Gene

RTN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. neuron differentiation Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Reticulon-1
    Alternative name(s):
    Neuroendocrine-specific protein
    Gene namesi
    Name:RTN1
    Synonyms:NSP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:10467. RTN1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of endoplasmic reticulum membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34880.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 776776Reticulon-1PRO_0000168158Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei487 – 4871Phosphoserine1 Publication

    Post-translational modificationi

    Isoforms RTN1-A and RTN1-B are phosphorylated.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ16799.
    PaxDbiQ16799.
    PRIDEiQ16799.

    PTM databases

    PhosphoSiteiQ16799.

    Expressioni

    Tissue specificityi

    Expressed in neural and neuroendocrine tissues and cell cultures derived therefrom. Expression of isoform RTN1-C is strongly correlated with neuronal differentiation.1 Publication

    Gene expression databases

    ArrayExpressiQ16799.
    BgeeiQ16799.
    CleanExiHS_RTN1.
    GenevestigatoriQ16799.

    Organism-specific databases

    HPAiCAB002745.

    Interactioni

    Subunit structurei

    Interacts with NDRG1.1 Publication

    Protein-protein interaction databases

    BioGridi112165. 6 interactions.
    IntActiQ16799. 4 interactions.
    MINTiMINT-154554.
    STRINGi9606.ENSP00000267484.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16799.
    SMRiQ16799. Positions 639-704.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei603 – 62321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei705 – 72521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini589 – 776188ReticulonPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi609 – 6124Poly-Leu

    Sequence similaritiesi

    Contains 1 reticulon domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG306139.
    HOGENOMiHOG000134444.
    HOVERGENiHBG008971.
    InParanoidiQ16799.
    OMAiQITTPVK.
    OrthoDBiEOG7CZK7J.
    PhylomeDBiQ16799.
    TreeFamiTF105431.

    Family and domain databases

    InterProiIPR003388. Reticulon.
    [Graphical view]
    PANTHERiPTHR10994. PTHR10994. 1 hit.
    PfamiPF02453. Reticulon. 1 hit.
    [Graphical view]
    PROSITEiPS50845. RETICULON. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform RTN1-A (identifier: Q16799-1) [UniParc]FASTAAdd to Basket

    Also known as: NSP-A

    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

    MAAPGDPQDE LLPLAGPGSQ WLRHRGEGEN EAVTPKGATP APQAGEPSPG    50
    LGARAREAAS REAGSGPARQ SPVAMETAST GVAGVSSAMD HTFSTTSKDG 100
    EGSCYTSLIS DICYPPQEDS TYFTGILQKE NGHVTISESP EELGTPGPSL 150
    PDVPGIESRG LFSSDSGIEM TPAESTEVNK ILADPLDQMK AEAYKYIDIT 200
    RPEEVKHQEQ HHPELEDKDL DFKNKDTDIS IKPEGVREPD KPAPVEGKII 250
    KDHLLEESTF APYIDDLSEE QRRAPQITTP VKITLTEIEP SVETTTQEKT 300
    PEKQDICLKP SPDTVPTVTV SEPEDDSPGS ITPPSSGTEP SAAESQGKGS 350
    ISEDELITAI KEAKGLSYET AENPRPVGQL ADRPEVKARS GPPTIPSPLD 400
    HEASSAESGD SEIELVSEDP MAAEDALPSG YVSFGHVGGP PPSPASPSIQ 450
    YSILREEREA ELDSELIIES CDASSASEES PKREQDSPPM KPSALDAIRE 500
    ETGVRAEERA PSRRGLAEPG SFLDYPSTEP QPGPELPPGD GALEPETPML 550
    PRKPEEDSSS NQSPAATKGP GPLGPGAPPP LLFLNKQKAI DLLYWRDIKQ 600
    TGIVFGSFLL LLFSLTQFSV VSVVAYLALA ALSATISFRI YKSVLQAVQK 650
    TDEGHPFKAY LELEITLSQE QIQKYTDCLQ FYVNSTLKEL RRLFLVQDLV 700
    DSLKFAVLMW LLTYVGALFN GLTLLLMAVV SMFTLPVVYV KHQAQIDQYL 750
    GLVRTHINAV VAKIQAKIPG AKRHAE 776
    Length:776
    Mass (Da):83,618
    Last modified:November 1, 1996 - v1
    Checksum:iCA5B6232353096FE
    GO
    Isoform RTN1-B (identifier: Q16799-2) [UniParc]FASTAAdd to Basket

    Also known as: NSP-B

    The sequence of this isoform differs from the canonical sequence as follows:
         1-420: Missing.

    Show »
    Length:356
    Mass (Da):38,950
    Checksum:iBE8956BC59FB6F08
    GO
    Isoform RTN1-C (identifier: Q16799-3) [UniParc]FASTAAdd to Basket

    Also known as: NSP-C

    The sequence of this isoform differs from the canonical sequence as follows:
         1-568: Missing.
         569-588: GPGPLGPGAPPPLLFLNKQK → MQATADSTKMDCVWSNWKSQ

    Show »
    Length:208
    Mass (Da):23,576
    Checksum:i49C5668130635E17
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti247 – 2471G → E.
    Corresponds to variant rs35645652 [ dbSNP | Ensembl ].
    VAR_053630
    Natural varianti357 – 3571I → V.
    Corresponds to variant rs35707243 [ dbSNP | Ensembl ].
    VAR_053631

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 568568Missing in isoform RTN1-C. 2 PublicationsVSP_005645Add
    BLAST
    Alternative sequencei1 – 420420Missing in isoform RTN1-B. 1 PublicationVSP_005644Add
    BLAST
    Alternative sequencei569 – 58820GPGPL…LNKQK → MQATADSTKMDCVWSNWKSQ in isoform RTN1-C. 2 PublicationsVSP_005646Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L10333 mRNA. Translation: AAA59950.1.
    L10334 mRNA. Translation: AAA59951.1.
    L10335 mRNA. Translation: AAA59952.1.
    CH471061 Genomic DNA. Translation: EAW80762.1.
    BC090862 mRNA. Translation: AAH90862.1.
    BC000314 mRNA. Translation: AAH00314.2.
    BC003003 mRNA. Translation: AAH03003.2.
    CCDSiCCDS9740.1. [Q16799-1]
    CCDS9741.1. [Q16799-3]
    PIRiA46583.
    I60904.
    RefSeqiNP_066959.1. NM_021136.2. [Q16799-1]
    NP_996734.1. NM_206852.2. [Q16799-3]
    UniGeneiHs.368626.

    Genome annotation databases

    EnsembliENST00000267484; ENSP00000267484; ENSG00000139970. [Q16799-1]
    ENST00000342503; ENSP00000340716; ENSG00000139970. [Q16799-3]
    GeneIDi6252.
    KEGGihsa:6252.
    UCSCiuc001xek.2. human. [Q16799-3]
    uc001xem.1. human. [Q16799-2]
    uc001xen.1. human. [Q16799-1]

    Polymorphism databases

    DMDMi12643733.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L10333 mRNA. Translation: AAA59950.1 .
    L10334 mRNA. Translation: AAA59951.1 .
    L10335 mRNA. Translation: AAA59952.1 .
    CH471061 Genomic DNA. Translation: EAW80762.1 .
    BC090862 mRNA. Translation: AAH90862.1 .
    BC000314 mRNA. Translation: AAH00314.2 .
    BC003003 mRNA. Translation: AAH03003.2 .
    CCDSi CCDS9740.1. [Q16799-1 ]
    CCDS9741.1. [Q16799-3 ]
    PIRi A46583.
    I60904.
    RefSeqi NP_066959.1. NM_021136.2. [Q16799-1 ]
    NP_996734.1. NM_206852.2. [Q16799-3 ]
    UniGenei Hs.368626.

    3D structure databases

    ProteinModelPortali Q16799.
    SMRi Q16799. Positions 639-704.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112165. 6 interactions.
    IntActi Q16799. 4 interactions.
    MINTi MINT-154554.
    STRINGi 9606.ENSP00000267484.

    PTM databases

    PhosphoSitei Q16799.

    Polymorphism databases

    DMDMi 12643733.

    Proteomic databases

    MaxQBi Q16799.
    PaxDbi Q16799.
    PRIDEi Q16799.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000267484 ; ENSP00000267484 ; ENSG00000139970 . [Q16799-1 ]
    ENST00000342503 ; ENSP00000340716 ; ENSG00000139970 . [Q16799-3 ]
    GeneIDi 6252.
    KEGGi hsa:6252.
    UCSCi uc001xek.2. human. [Q16799-3 ]
    uc001xem.1. human. [Q16799-2 ]
    uc001xen.1. human. [Q16799-1 ]

    Organism-specific databases

    CTDi 6252.
    GeneCardsi GC14M060062.
    HGNCi HGNC:10467. RTN1.
    HPAi CAB002745.
    MIMi 600865. gene.
    neXtProti NX_Q16799.
    PharmGKBi PA34880.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306139.
    HOGENOMi HOG000134444.
    HOVERGENi HBG008971.
    InParanoidi Q16799.
    OMAi QITTPVK.
    OrthoDBi EOG7CZK7J.
    PhylomeDBi Q16799.
    TreeFami TF105431.

    Miscellaneous databases

    ChiTaRSi RTN1. human.
    GeneWikii RTN1.
    GenomeRNAii 6252.
    NextBioi 24277.
    PROi Q16799.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16799.
    Bgeei Q16799.
    CleanExi HS_RTN1.
    Genevestigatori Q16799.

    Family and domain databases

    InterProi IPR003388. Reticulon.
    [Graphical view ]
    PANTHERi PTHR10994. PTHR10994. 1 hit.
    Pfami PF02453. Reticulon. 1 hit.
    [Graphical view ]
    PROSITEi PS50845. RETICULON. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression of alternative transcripts of a novel neuroendocrine-specific gene and identification of its 135-kDa translational product."
      Roebroek A.J.M., Van de Velde H.J.K., Van Bokhoven A., Broers J.L.V., Ramaekers F.C.S., Van de Ven W.J.M.
      J. Biol. Chem. 268:13439-13447(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS RTN1-A; RTN1-B AND RTN1-C).
      Tissue: Lung carcinoma.
    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 RTN1-A AND RTN1-C).
      Tissue: Lung and PNS.
    4. "Genomic organization of the human NSP gene, prototype of a novel gene family encoding reticulons."
      Roebroek A.J.M., Ayoubi T.A.Y., Van de Velde H.J.K., Schoenmakers E.F.P.M., Pauli I.G.L., Van de Ven W.J.M.
      Genomics 32:191-199(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING.
    5. Cited for: TISSUE SPECIFICITY.
    6. "NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24."
      Hunter M., Angelicheva D., Tournev I., Ingley E., Chan D.C., Watts G.F., Kremensky I., Kalaydjieva L.
      Biochem. Biophys. Res. Commun. 332:982-992(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NDRG1.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-487, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.

    Entry informationi

    Entry nameiRTN1_HUMAN
    AccessioniPrimary (citable) accession number: Q16799
    Secondary accession number(s): Q16800
    , Q16801, Q5BKZ4, Q9BQ59
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 119 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 14
      Human chromosome 14: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3