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

Gene ID: 5000, updated on 13-Mar-2020

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

Genomic context

See ORC4 in Genome Data Viewer
Location:
2q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (147930396..148021604, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (148687966..148779173, 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
Meier-Gorlin syndrome 2
MedGen: C3151097 OMIM: 613800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA replication origin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication origin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA replication TAS
Traceable Author Statement
more info
 
DNA replication initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication initiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region HDA PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear origin of replication recognition complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear origin of replication recognition complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
origin recognition complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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_028252.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001190879.2NP_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_001190881.2NP_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_001190882.2NP_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
  5. NM_001374272.1NP_001361201.1  origin recognition complex subunit 4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009480, AC019226
  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
    ENSP00000376597.4, ENST00000392857.9
    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_181742.3NP_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.

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..148021604 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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