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

    Gene ID: 79596, updated on 9-Dec-2024

    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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.1), brain (RPKM 4.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OBI1 in Genome Data Viewer
    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_000013.11Genomic Context describing neighboring genes Neighboring gene OBI1 antisense RNA 1 Neighboring gene elongin C pseudogene 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:79169924-79170652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5424 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:79180755-79181616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:79181617-79182476 Neighboring gene uncharacterized LOC780529 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:79231698-79232658 Neighboring gene POU class 4 homeobox 1 Neighboring gene uncharacterized LOC105370272 Neighboring gene ribosomal protein L21 pseudogene 111 Neighboring gene long intergenic non-protein coding RNA 331

    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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    ORC ubiquitin ligase 1
    Names
    ring finger protein 219
    NP_078822.3
    XP_011533527.1
    XP_024305178.1
    XP_054230934.1
    XP_054230935.1

    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.

    mRNA and Protein(s)

    1. NM_024546.4NP_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:74269
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG5432
      Location:18165
      RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
      cd16562
      Location:1556
      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

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      78614289..78659155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535225.2XP_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:83189
      PRK12704; phosphodiesterase; Provisional
      TIGR04211
      Location:29132
      SH3_and_anchor; SH3 domain protein
    2. XM_024449410.2XP_024305178.1  ORC ubiquitin ligase 1 isoform X1

      Conserved Domains (2) summary
      PRK12704
      Location:83189
      PRK12704; phosphodiesterase; Provisional
      TIGR04211
      Location:29132
      SH3_and_anchor; SH3 domain protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      77840023..77884889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374959.1XP_054230934.1  ORC ubiquitin ligase 1 isoform X1

    2. XM_054374960.1XP_054230935.1  ORC ubiquitin ligase 1 isoform X1