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Q8ND25

- ZNRF1_HUMAN

UniProt

Q8ND25 - ZNRF1_HUMAN

Protein

E3 ubiquitin-protein ligase ZNRF1

Gene

ZNRF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons Probable.1 Publication

    Pathwayi

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri184 – 22542RING-type; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. ligase activity Source: UniProtKB-KW
    2. protein binding Source: IntAct
    3. ubiquitin-protein transferase activity Source: UniProtKB
    4. zinc ion binding Source: InterPro

    GO - Biological processi

    1. proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
    2. protein K48-linked ubiquitination Source: UniProtKB

    Keywords - Molecular functioni

    Ligase

    Keywords - Biological processi

    Ubl conjugation pathway

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    E3 ubiquitin-protein ligase ZNRF1 (EC:6.3.2.-)
    Alternative name(s):
    Nerve injury-induced gene 283 protein
    Zinc/RING finger protein 1
    Gene namesi
    Name:ZNRF1
    Synonyms:NIN283
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:18452. ZNRF1.

    Subcellular locationi

    Endosome. Lysosome. Membrane; Peripheral membrane protein. Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane Curated; Peripheral membrane protein Curated
    Note: Associated with synaptic vesicle membranes in neurons.

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytosol Source: MGI
    3. endosome Source: LIFEdb
    4. lysosome Source: UniProtKB-SubCell
    5. membrane Source: MGI
    6. synaptic vesicle membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cytoplasmic vesicle, Endosome, Lysosome, Membrane, Synapse

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi184 – 1841C → A: Loss of E3 activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA134938288.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedCurated
    Chaini2 – 227226E3 ubiquitin-protein ligase ZNRF1PRO_0000277799Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi2 – 21N-myristoyl glycine1 Publication
    Modified residuei52 – 521Phosphoserine1 Publication
    Modified residuei53 – 531Phosphoserine1 Publication

    Keywords - PTMi

    Lipoprotein, Myristate, Phosphoprotein

    Proteomic databases

    MaxQBiQ8ND25.
    PaxDbiQ8ND25.
    PRIDEiQ8ND25.

    PTM databases

    PhosphoSiteiQ8ND25.

    Expressioni

    Tissue specificityi

    Expressed primarily in the nervous system, with expression higher in developing brain relative to adult. Expressed at low levels in testis and thymus.2 Publications

    Gene expression databases

    ArrayExpressiQ8ND25.
    BgeeiQ8ND25.
    CleanExiHS_ZNRF1.
    GenevestigatoriQ8ND25.

    Organism-specific databases

    HPAiHPA027470.

    Interactioni

    Subunit structurei

    Interacts with AKT1, GLUL and TUBB2A.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    UBE2D1P516684EBI-2129250,EBI-743540
    UBE2D2P628374EBI-2129250,EBI-347677
    UBE2D3P610773EBI-2129250,EBI-348268
    UBE2D4Q9Y2X83EBI-2129250,EBI-745527
    UBE2E1P519653EBI-2129250,EBI-348546
    UBE2NP610883EBI-2129250,EBI-1052908
    UBE2V1Q134042EBI-2129250,EBI-1050671

    Protein-protein interaction databases

    BioGridi124371. 15 interactions.
    IntActiQ8ND25. 12 interactions.
    MINTiMINT-4724320.
    STRINGi9606.ENSP00000335091.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8ND25.
    SMRiQ8ND25. Positions 183-222.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 109Required for endosomal and lysosomal localization and myristoylation

    Domaini

    The RING-type zinc finger domain is required for E3 ligase activity.By similarity

    Sequence similaritiesi

    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri184 – 22542RING-type; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG314053.
    HOGENOMiHOG000285998.
    HOVERGENiHBG094200.
    KOiK10694.
    OMAiWRTECSW.
    OrthoDBiEOG70W3FG.
    PhylomeDBiQ8ND25.
    TreeFamiTF317681.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    InterProiIPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF13639. zf-RING_2. 1 hit.
    [Graphical view]
    SMARTiSM00184. RING. 1 hit.
    [Graphical view]
    PROSITEiPS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8ND25-1) [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

    MGGKQSTAAR SRGPFPGVST DDSAVPPPGG APHFGHYRTG GGAMGLRSRS    50
    VSSVAGMGMD PSTAGGVPFG LYTPASRGTG DSERAPGGGG SASDSTYAHG 100
    NGYQETGGGH HRDGMLYLGS RASLADALPL HIAPRWFSSH SGFKCPICSK 150
    SVASDEMEMH FIMCLSKPRL SYNDDVLTKD AGECVICLEE LLQGDTIARL 200
    PCLCIYHKSC IDSWFEVNRS CPEHPAD 227
    Length:227
    Mass (Da):23,783
    Last modified:February 20, 2007 - v2
    Checksum:i41BCF1AAEDD0C52C
    GO
    Isoform 2 (identifier: Q8ND25-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         173-173: N → NGRIQRSLRGAQPEKTWLSGRTLQEQPWRTECSWAPMAQMQSYPHCPVENRE

    Note: No experimental confirmation available.

    Show »
    Length:278
    Mass (Da):29,777
    Checksum:i3BBC1E451429E13D
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei173 – 1731N → NGRIQRSLRGAQPEKTWLSG RTLQEQPWRTECSWAPMAQM QSYPHCPVENRE in isoform 2. 1 PublicationVSP_023088

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF378524 mRNA. Translation: AAK69753.1.
    AL136903 mRNA. Translation: CAB66837.1.
    AL834440 mRNA. Translation: CAD39100.1.
    AC092383 Genomic DNA. No translation available.
    AC099508 Genomic DNA. No translation available.
    CH471114 Genomic DNA. Translation: EAW95668.1.
    CH471114 Genomic DNA. Translation: EAW95670.1.
    CH471114 Genomic DNA. Translation: EAW95671.1.
    BC007235 mRNA. Translation: AAH07235.1.
    CCDSiCCDS10912.1. [Q8ND25-1]
    RefSeqiNP_115644.1. NM_032268.4. [Q8ND25-1]
    UniGeneiHs.427284.

    Genome annotation databases

    EnsembliENST00000320619; ENSP00000323362; ENSG00000186187. [Q8ND25-2]
    ENST00000335325; ENSP00000335091; ENSG00000186187. [Q8ND25-1]
    ENST00000567962; ENSP00000455601; ENSG00000186187. [Q8ND25-1]
    GeneIDi84937.
    KEGGihsa:84937.
    UCSCiuc002fdk.3. human. [Q8ND25-1]
    uc010cgr.1. human. [Q8ND25-2]

    Polymorphism databases

    DMDMi126253846.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF378524 mRNA. Translation: AAK69753.1 .
    AL136903 mRNA. Translation: CAB66837.1 .
    AL834440 mRNA. Translation: CAD39100.1 .
    AC092383 Genomic DNA. No translation available.
    AC099508 Genomic DNA. No translation available.
    CH471114 Genomic DNA. Translation: EAW95668.1 .
    CH471114 Genomic DNA. Translation: EAW95670.1 .
    CH471114 Genomic DNA. Translation: EAW95671.1 .
    BC007235 mRNA. Translation: AAH07235.1 .
    CCDSi CCDS10912.1. [Q8ND25-1 ]
    RefSeqi NP_115644.1. NM_032268.4. [Q8ND25-1 ]
    UniGenei Hs.427284.

    3D structure databases

    ProteinModelPortali Q8ND25.
    SMRi Q8ND25. Positions 183-222.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124371. 15 interactions.
    IntActi Q8ND25. 12 interactions.
    MINTi MINT-4724320.
    STRINGi 9606.ENSP00000335091.

    PTM databases

    PhosphoSitei Q8ND25.

    Polymorphism databases

    DMDMi 126253846.

    Proteomic databases

    MaxQBi Q8ND25.
    PaxDbi Q8ND25.
    PRIDEi Q8ND25.

    Protocols and materials databases

    DNASUi 84937.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320619 ; ENSP00000323362 ; ENSG00000186187 . [Q8ND25-2 ]
    ENST00000335325 ; ENSP00000335091 ; ENSG00000186187 . [Q8ND25-1 ]
    ENST00000567962 ; ENSP00000455601 ; ENSG00000186187 . [Q8ND25-1 ]
    GeneIDi 84937.
    KEGGi hsa:84937.
    UCSCi uc002fdk.3. human. [Q8ND25-1 ]
    uc010cgr.1. human. [Q8ND25-2 ]

    Organism-specific databases

    CTDi 84937.
    GeneCardsi GC16P075033.
    HGNCi HGNC:18452. ZNRF1.
    HPAi HPA027470.
    MIMi 612060. gene.
    neXtProti NX_Q8ND25.
    PharmGKBi PA134938288.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314053.
    HOGENOMi HOG000285998.
    HOVERGENi HBG094200.
    KOi K10694.
    OMAi WRTECSW.
    OrthoDBi EOG70W3FG.
    PhylomeDBi Q8ND25.
    TreeFami TF317681.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GeneWikii ZNRF1.
    GenomeRNAii 84937.
    NextBioi 75388.
    PROi Q8ND25.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8ND25.
    Bgeei Q8ND25.
    CleanExi HS_ZNRF1.
    Genevestigatori Q8ND25.

    Family and domain databases

    Gene3Di 3.30.40.10. 1 hit.
    InterProi IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF13639. zf-RING_2. 1 hit.
    [Graphical view ]
    SMARTi SM00184. RING. 1 hit.
    [Graphical view ]
    PROSITEi PS50089. ZF_RING_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of genes induced in peripheral nerve after injury. Expression profiling and novel gene discovery."
      Araki T., Nagarajan R., Milbrandt J.
      J. Biol. Chem. 276:34131-34141(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-278 (ISOFORM 2).
      Tissue: Testis.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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.
    6. "ZNRF proteins constitute a family of presynaptic E3 ubiquitin ligases."
      Araki T., Milbrandt J.
      J. Neurosci. 23:9385-9394(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, MYRISTOYLATION AT GLY-2, MUTAGENESIS OF CYS-184.
    7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-52 AND SER-53, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.

    Entry informationi

    Entry nameiZNRF1_HUMAN
    AccessioniPrimary (citable) accession number: Q8ND25
    Secondary accession number(s): D3DUJ9, Q9H083
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 20, 2007
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 92 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 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3