Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    RNF213 ring finger protein 213 [ Homo sapiens (human) ]

    Gene ID: 57674, updated on 5-Nov-2017
    Official Symbol
    RNF213provided by HGNC
    Official Full Name
    ring finger protein 213provided by HGNC
    Primary source
    HGNC:HGNC:14539
    See related
    Ensembl:ENSG00000173821 MIM:613768; Vega:OTTHUMG00000161415
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618
    Summary
    This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
    Orthologs
    Location:
    17q25.3
    Exon count:
    73
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (80260820..80398786)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78234643..78372586)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene caspase recruitment domain family member 14 Neighboring gene N-sulfoglucosamine sulfohydrolase Neighboring gene solute carrier family 26 member 11 Neighboring gene uncharacterized LOC100294362 Neighboring gene microRNA 4730 Neighboring gene endonuclease V Neighboring gene neuronal pentraxin 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Moyamoya disease 2
    MedGen: C1846689 OMIM: 607151 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
    NHGRI GWA Catalog
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ring finger protein 213 (RNF213) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC9929, FLJ13051, KIAA1554, KIAA1618, MGC46622, DKFZp762N1115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-protein transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of non-canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    E3 ubiquitin-protein ligase RNF213
    Names
    ALK lymphoma oligomerization partner on chromosome 17
    RING-type E3 ubiquitin transferase RNF213
    mysterin
    NP_001243000.2
    NP_066005.2
    XP_005257602.2
    XP_005257603.2
    XP_006722058.1
    XP_011523386.1
    XP_011523388.1
    XP_011523389.1
    XP_016880394.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031980.2 RefSeqGene

      Range
      5001..142926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256071.2NP_001243000.2  E3 ubiquitin-protein ligase RNF213 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (3).
      Source sequence(s)
      AB537889, AC123764, AC124319
      Consensus CDS
      CCDS58606.1
      UniProtKB/Swiss-Prot
      Q63HN8
      UniProtKB/TrEMBL
      A0A0A0MTR7
      Related
      ENSP00000464087.1, OTTHUMP00000260022, ENST00000582970.5, OTTHUMT00000443298
      Conserved Domains (3) summary
      cd00009
      Location:24152526
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24132526
      AAA; ATPases associated with a variety of cellular activities
      cd00162
      Location:39974035
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    2. NM_020954.3NP_066005.2  E3 ubiquitin-protein ligase RNF213 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 3' exons but includes an alternate 3' exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 3. The encoded isoform (2) has a distinct and significantly shorter C-terminus, compared to isoform 3.
      Source sequence(s)
      AB537889, AC124319, BC040341, DW443658
      Consensus CDS
      CCDS11772.1
      UniProtKB/Swiss-Prot
      Q63HN8
      Related
      ENSP00000324392.4, OTTHUMP00000257111, ENST00000319921.4, OTTHUMT00000415454
      Conserved Domains (1) summary
      cl21589
      Location:108279
      Relaxase; Relaxase/Mobilization nuclease domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      80260820..80398786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257545.4XP_005257602.2  E3 ubiquitin-protein ligase RNF213 isoform X1

      See identical proteins and their annotated locations for XP_005257602.2

      UniProtKB/TrEMBL
      A0A0A0MTC1
      Related
      ENSP00000425956.2, OTTHUMP00000220197, ENST00000508628.6, OTTHUMT00000364861
      Conserved Domains (3) summary
      cd00009
      Location:24642575
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24622575
      AAA; ATPases associated with a variety of cellular activities
      cd00162
      Location:40464084
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    2. XM_011525084.2XP_011523386.1  E3 ubiquitin-protein ligase RNF213 isoform X3

      Conserved Domains (3) summary
      cd00009
      Location:24642575
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24622575
      AAA; ATPases associated with a variety of cellular activities
      cd00162
      Location:40464084
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    3. XM_011525086.2XP_011523388.1  E3 ubiquitin-protein ligase RNF213 isoform X4

      Conserved Domains (3) summary
      cd00009
      Location:24642575
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24622575
      AAA; ATPases associated with a variety of cellular activities
      cd00162
      Location:40464084
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    4. XM_011525087.2XP_011523389.1  E3 ubiquitin-protein ligase RNF213 isoform X5

      Conserved Domains (3) summary
      cd00009
      Location:24642575
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24622575
      AAA; ATPases associated with a variety of cellular activities
      pfam05466
      Location:230420
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
    5. XM_005257546.4XP_005257603.2  E3 ubiquitin-protein ligase RNF213 isoform X1

      See identical proteins and their annotated locations for XP_005257603.2

      UniProtKB/TrEMBL
      A0A0A0MTC1
      Conserved Domains (3) summary
      cd00009
      Location:24642575
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24622575
      AAA; ATPases associated with a variety of cellular activities
      cd00162
      Location:40464084
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    6. XM_006721995.3XP_006722058.1  E3 ubiquitin-protein ligase RNF213 isoform X1

      See identical proteins and their annotated locations for XP_006722058.1

      UniProtKB/TrEMBL
      A0A0A0MTC1
      Conserved Domains (3) summary
      cd00009
      Location:24642575
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:24622575
      AAA; ATPases associated with a variety of cellular activities
      cd00162
      Location:40464084
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    7. XM_017024905.1XP_016880394.1  E3 ubiquitin-protein ligase RNF213 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      78320628..78458825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020914.4: Suppressed sequence

      Description
      NM_020914.4: This RefSeq was permanently suppressed because currently there is insufficient support for the full-length exon combination of this variant.
    Support Center