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    ORC4 origin recognition complex subunit 4 [ Homo sapiens (human) ]

    Gene ID: 5000, updated on 8-Jul-2021

    Summary

    Official Symbol
    ORC4provided by HGNC
    Official Full Name
    origin recognition complex subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:8490
    See related
    Ensembl:ENSG00000115947 MIM:603056
    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
    ORC4L; ORC4P
    Summary
    The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in brain (RPKM 7.5), skin (RPKM 6.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ORC4 in Genome Data Viewer
    Location:
    2q23.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (147930396..148021551, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (148687965..148779120, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L26 pseudogene 14 Neighboring gene RNA, U6 small nuclear 1275, pseudogene Neighboring gene activin A receptor type 2A Neighboring gene uncharacterized LOC105373674 Neighboring gene uncharacterized LOC105373673 Neighboring gene methyl-CpG binding domain protein 5 Neighboring gene USP12 pseudogene 2

    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
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Meier-Gorlin syndrome 2
    MedGen: C3151097 OMIM: 613800 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ46668

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA replication origin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA replication origin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables nucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA replication initiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    origin recognition complex subunit 4
    Names
    origin recognition complex, subunit 4 homolog

    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_028252.1 RefSeqGene

      Range
      5001..96208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190879.3NP_001177808.1  origin recognition complex subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_001177808.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. Variants 1 through 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC009480, BC014847, BX423253, DC302315, DC399282
      Consensus CDS
      CCDS2187.1
      UniProtKB/Swiss-Prot
      O43929
      Related
      ENSP00000441953.1, ENST00000535373.5
      Conserved Domains (2) summary
      COG1474
      Location:43226
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:228415
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
    2. NM_001190881.3NP_001177810.1  origin recognition complex subunit 4 isoform 2

      See identical proteins and their annotated locations for NP_001177810.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several exons in the 5' region, which results in the use of a downstream start codon, compared to variant 4. The resulting protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009480, AK295721, BP277082
      Consensus CDS
      CCDS54404.1
      UniProtKB/Swiss-Prot
      O43929
      Related
      ENSP00000441502.1, ENST00000536575.5
      Conserved Domains (2) summary
      COG1474
      Location:2142
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:144331
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
    3. NM_001190882.3NP_001177811.1  origin recognition complex subunit 4 isoform 3

      See identical proteins and their annotated locations for NP_001177811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two consecutive exons in the 5' region, which results in the use of a downstream start codon, compared to variant 4. The resulting protein (isoform 3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009480, AK298862, BC005388
      Consensus CDS
      CCDS54405.1
      UniProtKB/Swiss-Prot
      O43929
      Related
      ENSP00000438326.1, ENST00000540442.5
      Conserved Domains (3) summary
      COG1474
      Location:4152
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:154331
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
      cl21455
      Location:50139
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_001374270.1NP_001361199.1  origin recognition complex subunit 4 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009480, AC019226
      Conserved Domains (2) summary
      COG1474
      Location:43226
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:228415
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
    5. NM_001374272.1NP_001361201.1  origin recognition complex subunit 4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009480, AC019226
      Conserved Domains (2) summary
      COG1474
      Location:2142
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:144331
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
    6. NM_002552.5NP_002543.2  origin recognition complex subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_002543.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate segment in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC009480, AK291989, AK298862, DC317404
      Consensus CDS
      CCDS2187.1
      UniProtKB/Swiss-Prot
      O43929
      UniProtKB/TrEMBL
      A8K7H4
      Conserved Domains (2) summary
      COG1474
      Location:43226
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:228415
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
    7. NM_181741.4NP_859525.1  origin recognition complex subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_859525.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an exon in the 5' UTR, compared to variant 4. Variants 1 through 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC009480, BC014847, DA227202
      Consensus CDS
      CCDS2187.1
      UniProtKB/Swiss-Prot
      O43929
      Related
      ENSP00000376597.5, ENST00000392857.10
      Conserved Domains (2) summary
      COG1474
      Location:43226
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:228415
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
    8. NM_181742.4NP_859526.1  origin recognition complex subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_859526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, as compared to variant 4. Variants 1 through 4 encode the same protein (isoform 1).
      Source sequence(s)
      AC009480, BC016177, DC365653
      Consensus CDS
      CCDS2187.1
      UniProtKB/Swiss-Prot
      O43929
      UniProtKB/TrEMBL
      Q96B14
      Related
      ENSP00000264169.2, ENST00000264169.6
      Conserved Domains (2) summary
      COG1474
      Location:43226
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:228415
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      147930396..148021551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511255.2XP_011509557.1  origin recognition complex subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_011509557.1

      UniProtKB/Swiss-Prot
      O43929
      Conserved Domains (2) summary
      COG1474
      Location:43226
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam14629
      Location:228415
      ORC4_C; Origin recognition complex (ORC) subunit 4 C-terminus
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