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

    Gene ID: 57674, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:14539
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 11.7), appendix (RPKM 11.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RNF213 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    74
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (80260852..80398794)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (81161115..81300623)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78234651..78372594)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene caspase recruitment domain family member 14 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:78178385-78179584 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:78183891-78184046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78195951-78196788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78196789-78197626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78200105-78200606 Neighboring gene N-sulfoglucosamine sulfohydrolase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78209849-78210638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78210639-78211426 Neighboring gene solute carrier family 26 member 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78227308-78228024 Neighboring gene SLC26A11-RNF213 intergenic CAGE-defined mid-level expression enhancer Neighboring gene CRISPRi-validated cis-regulatory element chr17.5742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78237270-78237826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78247837-78248435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78251821-78252439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78258533-78259093 Neighboring gene RNF213 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:78345568-78346767 Neighboring gene MPRA-validated peak3024 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78354122-78354622 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:78359110-78360309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78369069-78369570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78371216-78371723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78371724-78372230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78398753-78399254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78399255-78399754 Neighboring gene microRNA 4730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78415272-78415938 Neighboring gene endonuclease V Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78419431-78420213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78428217-78429046 Neighboring gene Sharpr-MPRA regulatory region 4093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78441725-78442449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78448861-78449394 Neighboring gene neuronal pentraxin 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid droplet formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of non-canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of non-canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sprouting angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in xenophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RNF213; protein ALO17
    Names
    ALK lymphoma oligomerization partner on chromosome 17
    E3 ubiquitin-lipopolysaccharide ligase RNF213
    RING-type E3 ubiquitin transferase RNF213
    mysterin
    NP_001243000.2
    NP_001397124.1
    NP_065965.5
    NP_066005.2
    XP_011523386.1
    XP_011523388.1
    XP_011523389.1
    XP_016880394.1
    XP_047292438.1
    XP_047292439.1
    XP_047292440.1
    XP_054172769.1
    XP_054172770.1
    XP_054172771.1
    XP_054172772.1
    XP_054172773.1
    XP_054172774.1
    XP_054172775.1
    XP_054172776.1
    XP_054172777.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4992..142934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AB537889, AC123764, AC124319
      Consensus CDS
      CCDS58606.1
      UniProtKB/Swiss-Prot
      C9JCP4, D6RI12, F8WKS1, Q63HN8, Q658P6, Q69YK7, Q6MZR1, Q8IWF4, Q8IZX1, Q8IZX2, Q8N406, Q8TEU0, Q9H6C9, Q9H6H9, Q9H6P3, Q9H8A9, Q9HCF4, Q9HCL8
      UniProtKB/TrEMBL
      A0A0A0MTR7
      Related
      ENSP00000464087.1, ENST00000582970.6
      Conserved Domains (3) summary
      smart00382
      Location:24132526
      AAA; ATPases associated with a variety of cellular activities
      PHA03169
      Location:134309
      PHA03169; hypothetical protein; Provisional
      cd16561
      Location:39934043
      RING-HC_RNF213; RING finger, HC subclass, found in RING finger protein 213 (RNF213) and similar proteins
    2. NM_001410195.1NP_001397124.1  E3 ubiquitin-protein ligase RNF213 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC123764, AC124319, KC877677, KF510430
      Consensus CDS
      CCDS32761.2
      UniProtKB/TrEMBL
      A0A0A0MTC1
    3. NM_020914.5NP_065965.5  protein ALO17 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC123764, AC124319, KC877677, KF510430
      Consensus CDS
      CCDS32761.2
      UniProtKB/TrEMBL
      A0A0A0MTC1
      Related
      ENSP00000425956.2, ENST00000508628.6
    4. NM_020954.4NP_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, AC123764, AC124319, BC040341, DW443658
      Consensus CDS
      CCDS11772.1
      UniProtKB/Swiss-Prot
      Q63HN8
      Related
      ENSP00000324392.4, ENST00000319921.4
      Conserved Domains (1) summary
      cl21589
      Location:108279
      Relaxase; Relaxase/Mobilization nuclease domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      80260852..80398794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436482.1XP_047292438.1  E3 ubiquitin-protein ligase RNF213 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MTR7
      Conserved Domains (3) summary
      smart00382
      Location:24132526
      AAA; ATPases associated with a variety of cellular activities
      PHA03169
      Location:134309
      PHA03169; hypothetical protein; Provisional
      cd16561
      Location:39934043
      RING-HC_RNF213; RING finger, HC subclass, found in RING finger protein 213 (RNF213) and similar proteins
    2. XM_011525084.3XP_011523386.1  E3 ubiquitin-protein ligase RNF213 isoform X3

      UniProtKB/Swiss-Prot
      C9JCP4, D6RI12, F8WKS1, Q63HN8, Q658P6, Q69YK7, Q6MZR1, Q8IWF4, Q8IZX1, Q8IZX2, Q8N406, Q8TEU0, Q9H6C9, Q9H6H9, Q9H6P3, Q9H8A9, Q9HCF4, Q9HCL8
      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_047436483.1XP_047292439.1  E3 ubiquitin-protein ligase RNF213 isoform X4

    4. XM_011525086.3XP_011523388.1  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
      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 ...
    5. XM_011525087.4XP_011523389.1  E3 ubiquitin-protein ligase RNF213 isoform X6

    6. XM_047436484.1XP_047292440.1  E3 ubiquitin-protein ligase RNF213 isoform X7

    7. XM_017024905.3XP_016880394.1  E3 ubiquitin-protein ligase RNF213 isoform X2

      UniProtKB/Swiss-Prot
      C9JCP4, D6RI12, F8WKS1, Q63HN8, Q658P6, Q69YK7, Q6MZR1, Q8IWF4, Q8IZX1, Q8IZX2, Q8N406, Q8TEU0, Q9H6C9, Q9H6H9, Q9H6P3, Q9H8A9, Q9HCF4, Q9HCL8

    RNA

    1. XR_007065355.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      81161115..81300623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316794.1XP_054172769.1  E3 ubiquitin-protein ligase RNF213 isoform X8

    2. XM_054316795.1XP_054172770.1  E3 ubiquitin-protein ligase RNF213 isoform X1

    3. XM_054316798.1XP_054172773.1  E3 ubiquitin-protein ligase RNF213 isoform X3

    4. XM_054316799.1XP_054172774.1  E3 ubiquitin-protein ligase RNF213 isoform X4

    5. XM_054316800.1XP_054172775.1  E3 ubiquitin-protein ligase RNF213 isoform X5

    6. XM_054316801.1XP_054172776.1  E3 ubiquitin-protein ligase RNF213 isoform X6

    7. XM_054316796.1XP_054172771.1  E3 ubiquitin-protein ligase RNF213 isoform X1

    8. XM_054316802.1XP_054172777.1  E3 ubiquitin-protein ligase RNF213 isoform X7

    9. XM_054316797.1XP_054172772.1  E3 ubiquitin-protein ligase RNF213 isoform X2

    RNA

    1. XR_008484867.1 RNA Sequence