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

Gene ID: 57674, updated on 14-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
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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 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
Compare labs

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