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

Gene ID: 57674, updated on 1-Oct-2019

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
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

Genomic context

See RNF213 in Genome Data Viewer
Location:
17q25.3
Exon count:
72
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (80260820..80398794)
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 N-sulfoglucosamine sulfohydrolase Neighboring gene solute carrier family 26 member 11 Neighboring gene SLC26A11-RNF213 intergenic CAGE-defined mid-level expression enhancer Neighboring gene RNF213 antisense RNA 1 Neighboring gene microRNA 4730 Neighboring gene endonuclease V 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
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

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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

    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, ENST00000582970.5
    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_020954.4NP_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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    80260820..80398794
    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, ENST00000508628.6
    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_011525087.3XP_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_017024905.2XP_016880394.1  E3 ubiquitin-protein ligase RNF213 isoform X2

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.
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