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

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: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 74

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (80260852..80398794)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (81161115..81300623)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (78234651..78372594)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213.
Title: Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Title: De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
RNF213 inhibits migration in lung adenocarcinoma cell.
Title: RNF213 inhibits migration in lung adenocarcinoma cell.
Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya.
Title: Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya.
Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease.
Title: Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease.
Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.
Title: Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.
Genome-wide and targeted CRISPR screens identify RNF213 as a mediator of interferon gamma-dependent pathogen restriction in human cells.
Title: Genome-wide and targeted CRISPR screens identify RNF213 as a mediator of interferon gamma-dependent pathogen restriction in human cells.
Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack.
Title: Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack.
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.
Title: RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.
Clinical characteristics and intracranial arterial lesions of non-young adult ischemic stroke patients with RNF213 p.R4810K variant.
Title: Clinical characteristics and intracranial arterial lesions of non-young adult ischemic stroke patients with RNF213 p.R4810K variant.

Submit: New GeneRIF Correction See all GeneRIFs (126)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

SHGC-153553 (e-PCR)
- UniSTS:183064

SHGC-33067 (e-PCR)
- UniSTS:78121

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

SHGC-53147 (e-PCR)
- UniSTS:2132

RH46154 (e-PCR)
- UniSTS:72029

D10S16 (e-PCR)
- UniSTS:155756

G01830 (e-PCR)
- UniSTS:1389

D1S1423 (e-PCR)
- UniSTS:149619

RH15895 (e-PCR)
- UniSTS:70267

G65561 (e-PCR)
- UniSTS:225403

RH35986 (e-PCR)
- UniSTS:35983

D17S785 (e-PCR), detects polymorphism
- UniSTS:18587

D17S836 (e-PCR), detects polymorphism
- UniSTS:58016

D17S939 (e-PCR)
- UniSTS:13733

D17S1463E (e-PCR)
- UniSTS:150504

D5S1597E (e-PCR)
- UniSTS:151019

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 metal ion binding	IEA Inferred from Electronic Annotation more info
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 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 more info	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

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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

EC 2.3.2.27

NP_001397124.1

EC 2.3.2.27

NP_065965.5

EC 2.3.2.27

NP_066005.2

EC 2.3.2.27

XP_011523386.1

EC 2.3.2.27

XP_011523388.1

EC 2.3.2.27

XP_011523389.1

EC 2.3.2.27

XP_016880394.1

EC 2.3.2.27

XP_047292438.1

EC 2.3.2.27

XP_047292439.1

EC 2.3.2.27

XP_047292440.1

EC 2.3.2.27

XP_054172769.1

EC 2.3.2.27

XP_054172770.1

EC 2.3.2.27

XP_054172771.1

EC 2.3.2.27

XP_054172772.1

EC 2.3.2.27

XP_054172773.1

EC 2.3.2.27

XP_054172774.1

EC 2.3.2.27

XP_054172775.1

EC 2.3.2.27

XP_054172776.1

EC 2.3.2.27

XP_054172777.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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

NG_031980.2 RefSeqGene

Range

4992..142934

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256071.3 → NP_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:2413 → 2526

AAA; ATPases associated with a variety of cellular activities

PHA03169
Location:134 → 309

PHA03169; hypothetical protein; Provisional

cd16561
Location:3993 → 4043

RING-HC_RNF213; RING finger, HC subclass, found in RING finger protein 213 (RNF213) and similar proteins
NM_001410195.1 → NP_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
NM_020914.5 → NP_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
NM_020954.4 → NP_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:108 → 279

Relaxase; Relaxase/Mobilization nuclease domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

80260852..80398794

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0A0MTR7

Conserved Domains (3) summary

smart00382
Location:2413 → 2526

AAA; ATPases associated with a variety of cellular activities

PHA03169
Location:134 → 309

PHA03169; hypothetical protein; Provisional

cd16561
Location:3993 → 4043

RING-HC_RNF213; RING finger, HC subclass, found in RING finger protein 213 (RNF213) and similar proteins
XM_011525084.3 → XP_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:2464 → 2575

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:2462 → 2575

AAA; ATPases associated with a variety of cellular activities

cd00162
Location:4046 → 4084

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 ...
XM_047436483.1 → XP_047292439.1 E3 ubiquitin-protein ligase RNF213 isoform X4
XM_011525086.3 → XP_011523388.1 E3 ubiquitin-protein ligase RNF213 isoform X5

Conserved Domains (3) summary

cd00009
Location:2464 → 2575

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:2462 → 2575

AAA; ATPases associated with a variety of cellular activities

cd00162
Location:4046 → 4084

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 ...
XM_011525087.4 → XP_011523389.1 E3 ubiquitin-protein ligase RNF213 isoform X6
XM_047436484.1 → XP_047292440.1 E3 ubiquitin-protein ligase RNF213 isoform X7
XM_017024905.3 → XP_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