ORC6 origin recognition complex subunit 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ORC6provided by HGNC
Official Full Name: origin recognition complex subunit 6provided by HGNC
Primary source: HGNC:HGNC:17151
See related: Ensembl:ENSG00000091651 MIM:607213; AllianceGenome:HGNC:17151
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: ORC6L
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. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
Expression: Broad expression in testis (RPKM 6.8), bone marrow (RPKM 5.0) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (46689659..46698394)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (52486533..52495295)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (46723571..46732306)

Chromosome 16 - NC_000016.10 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
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?

Long Non-coding RNA COX10-AS1 Promotes Glioma Progression by Competitively Binding miR-1-3p to Regulate ORC6 Expression.
Title: Long Non-coding RNA COX10-AS1 Promotes Glioma Progression by Competitively Binding miR-1-3p to Regulate ORC6 Expression.
Multi-omics analysis reveals the involvement of origin recognition complex subunit 6 in tumor immune regulation and malignant progression.
Title: Multi-omics analysis reveals the involvement of origin recognition complex subunit 6 in tumor immune regulation and malignant progression.
DNA Damage-Induced, S-Phase Specific Phosphorylation of Orc6 is Critical for the Maintenance of Genome Stability.
Title: DNA Damage-Induced, S-Phase Specific Phosphorylation of Orc6 is Critical for the Maintenance of Genome Stability.
ORC6, a novel prognostic biomarker, correlates with T regulatory cell infiltration in prostate adenocarcinoma: a pan-cancer analysis.
Title: ORC6, a novel prognostic biomarker, correlates with T regulatory cell infiltration in prostate adenocarcinoma: a pan-cancer analysis.
Orc6 is a component of the replication fork and enables efficient mismatch repair.
Title: Orc6 is a component of the replication fork and enables efficient mismatch repair.
Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein.
Title: Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein.
Structural basis of DNA replication origin recognition by human Orc6 protein binding with DNA.
Title: Structural basis of DNA replication origin recognition by human Orc6 protein binding with DNA.
The 11-year-old boy with Meier-Gorlin syndrome (MGS) has a homozygous mutation in origin recognition complex, subunit 6 (ORC6) gene mapped to chromosome 16, and his father with heterozygote carrier of ORC6 gene.
Title: [A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].
The present report expands the clinical phenotype associated with ORC6 mutations to include severely abnormal embryological development suggesting a possible genotype-phenotype correlation.
Title: Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
our results suggest that Meier-Gorlin syndrome mutations in Orc6 impair the formation of ORC hexamers, interfering with appropriate ORC functions
Title: A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Meier-Gorlin syndrome 3 MedGen: C3151113 OMIM: 613803 GeneReviews: Not available	Compare labs

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

RH70418 (e-PCR)
- UniSTS:92168

SHGC-33562 (e-PCR)
- UniSTS:73392

D3S4354 (e-PCR)
- UniSTS:474102

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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
involved_in DNA replication initiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
part_of nuclear origin of replication recognition complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear origin of replication recognition complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of origin recognition complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: origin recognition complex subunit 6

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_028241.1 RefSeqGene

Range

5014..13749

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014321.4 → NP_055136.1 origin recognition complex subunit 6

See identical proteins and their annotated locations for NP_055136.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

BC050725, BC063565

Consensus CDS

CCDS10722.1

UniProtKB/Swiss-Prot

B3KN89, Q9Y5N6

UniProtKB/TrEMBL

B3KMP9

Related

ENSP00000219097.2, ENST00000219097.7

Conserved Domains (3) summary

cd11583
Location:94 → 186

Orc6_mid; Middle domain of the origin recognition complex subunit 6

cd16075
Location:199 → 249

ORC6_CTD; C-terminal domain of the eukaryotic origin recognition complex subunit ORC6

pfam05460
Location:6 → 94

ORC6; Origin recognition complex subunit 6 (ORC6)

RNA

NR_037620.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most [supported/expected] translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC007225, BC050725, BC063565, BG822640

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_000016.10 Reference GRCh38.p14 Primary Assembly

Range

46689659..46698394

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011522978.4 → XP_011521280.1 origin recognition complex subunit 6 isoform X1

Conserved Domains (2) summary

pfam05460
Location:6 → 94

ORC6; Origin recognition complex subunit 6 (ORC6)

cl21687
Location:94 → 150

Orc6_mid; Middle domain of the origin recognition complex subunit 6