OBI1 ORC ubiquitin ligase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OBI1provided by HGNC
Official Full Name: ORC ubiquitin ligase 1provided by HGNC
Primary source: HGNC:HGNC:20308
See related: Ensembl:ENSG00000152193 MIM:615906; AllianceGenome:HGNC:20308
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RNF219; C13orf7
Summary: Enables chromatin binding activity and ubiquitin-protein transferase activity. Involved in protein autoubiquitination; protein monoubiquitination; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 8.1), brain (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q31.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (78614289..78659155, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (77840023..77884889, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (79188424..79233290, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNF219 Promotes Nasopharyngeal Carcinoma Progression by Activating the NF-kappaB Pathway.
Title: RNF219 Promotes Nasopharyngeal Carcinoma Progression by Activating the NF-κB Pathway.
A potential association of RNF219-AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes.
Title: A potential association of RNF219-AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes.
RNF219 attenuates global mRNA decay through inhibition of CCR4-NOT complex-mediated deadenylation.
Title: RNF219 attenuates global mRNA decay through inhibition of CCR4-NOT complex-mediated deadenylation.
RNF219 silencing result in defective replication origin firing, as shown by reduced CDC45/MCM2-7/GINS complex formation, without affecting pre-replicative complex establishment. RNF219 catalyses the multi-mono-ubiquitylation of a subset of chromatin-bound ORC3 and ORC5 during S-phase.
Title: The ORC ubiquitin ligase OBI1 promotes DNA replication origin firing.

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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

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC30285 (e-PCR)
- UniSTS:73806

STS-H08200 (e-PCR)
- UniSTS:26769

D13S1666 (e-PCR)
- UniSTS:50592

D13S1437 (e-PCR)
- UniSTS:47831

RH78447 (e-PCR)
- UniSTS:6134

Clone Names

FLJ13449, FLJ25774, DKFZp686A01276, DKFZp686N15250, DKFZp686O03173

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
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 transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein monoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ORC ubiquitin ligase 1

Names: ring finger protein 219

NP_078822.3

EC 2.3.2.27

XP_011533527.1

EC 2.3.2.27

XP_024305178.1

EC 2.3.2.27

XP_054230934.1

EC 2.3.2.27

XP_054230935.1

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.

mRNA and Protein(s)

NM_024546.4 → NP_078822.3 ORC ubiquitin ligase 1

See identical proteins and their annotated locations for NP_078822.3

Status: VALIDATED

Source sequence(s)

AK023511, BC028586, BI550796, BM674566

Consensus CDS

CCDS31997.1

UniProtKB/Swiss-Prot

B2RN99, Q5W0B1, Q8TBY2, Q9H0T2, Q9H8M0

Related

ENSP00000282003.6, ENST00000282003.7

Conserved Domains (3) summary

COG1196
Location:74 → 269

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG5432
Location:18 → 165

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]

cd16562
Location:15 → 56

RING-HC_RNF219; RING finger, HC subclass, found in RING finger protein 219 (RNF219) and similar proteins

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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

78614289..78659155 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535225.2 → XP_011533527.1 ORC ubiquitin ligase 1 isoform X1

See identical proteins and their annotated locations for XP_011533527.1

Conserved Domains (2) summary

PRK12704
Location:83 → 189

PRK12704; phosphodiesterase; Provisional

TIGR04211
Location:29 → 132

SH3_and_anchor; SH3 domain protein
XM_024449410.2 → XP_024305178.1 ORC ubiquitin ligase 1 isoform X1

Conserved Domains (2) summary

PRK12704
Location:83 → 189

PRK12704; phosphodiesterase; Provisional

TIGR04211
Location:29 → 132

SH3_and_anchor; SH3 domain protein