MCM9 minichromosome maintenance 9 homologous recombination repair factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCM9provided by HGNC
Official Full Name: minichromosome maintenance 9 homologous recombination repair factorprovided by HGNC
Primary source: HGNC:HGNC:21484
See related: Ensembl:ENSG00000111877 MIM:610098; AllianceGenome:HGNC:21484
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: ODG4; MCMDC1; C6orf61; dJ329L24.1; dJ329L24.3
Summary: The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
Expression: Ubiquitous expression in thyroid (RPKM 3.1), lymph node (RPKM 3.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.31

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (118813455..118935159, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (119999276..120121020, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (119134618..119256324, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
Title: Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
Activity, substrate preference and structure of the HsMCM8/9 helicase.
Title: Activity, substrate preference and structure of the HsMCM8/9 helicase.
Structural study of the N-terminal domain of human MCM8/9 complex.
Title: Structural study of the N-terminal domain of human MCM8/9 complex.
The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.
Title: The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Title: An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Novel pathogenic mutations in minichromosome maintenance complex component 9 (MCM9) responsible for premature ovarian insufficiency.
Title: Novel pathogenic mutations in minichromosome maintenance complex component 9 (MCM9) responsible for premature ovarian insufficiency.
MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.
Title: MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.
Pathogenic variant in MCM9 gene is associated with premature ovarian insufficiency.
Title: Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Conceptual MCM8-9 inhibitors will be powerful cancer-specific chemosensitizers for platinum compounds.
Title: Inhibiting the MCM8-9 complex selectively sensitizes cancer cells to cisplatin and olaparib.
stalled replication forks can be restarted in S phase via homologous recombination using MCM8-9 as an alternative replicative helicase.
Title: Acute inactivation of the replicative helicase in human cells triggers MCM8-9-dependent DNA synthesis.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
46,XX ovarian dysgenesis-short stature syndrome MedGen: C4015409 OMIM: 616185 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

SHGC-31008 (e-PCR)
- UniSTS:61292

RH102595 (e-PCR)
- UniSTS:96929

RH46678 (e-PCR)
- UniSTS:52429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables MutLbeta complex binding	IDA Inferred from Direct Assay more info	PubMed
enables MutSalpha complex binding	IDA Inferred from Direct Assay more info	PubMed
enables MutSbeta complex binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to single-stranded DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA duplex unwinding	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA duplex unwinding	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in DNA replication	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in female gamete generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in recombinational interstrand cross-link repair	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MCM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MCM8-MCM9 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MCM8-MCM9 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA helicase MCM9

Names: DNA replication licensing factor MCM9; mini-chromosome maintenance deficient domain-containing protein 1; minichromosome maintenance complex component 9

NP_001365285.1

EC 3.6.4.12

NP_001365286.1

EC 3.6.4.12

NP_001365287.1

EC 3.6.4.12

NP_001365288.1

EC 3.6.4.12

NP_001365289.1

EC 3.6.4.12

NP_001365290.1

EC 3.6.4.12

NP_001365291.1

EC 3.6.4.12

NP_001365292.1

EC 3.6.4.12

NP_001365293.1

EC 3.6.4.12

NP_001365294.1

EC 3.6.4.12

NP_001365295.1

EC 3.6.4.12

NP_001365296.1

EC 3.6.4.12

NP_001365297.1

EC 3.6.4.12

NP_001365298.1

EC 3.6.4.12

NP_001365299.1

EC 3.6.4.12

NP_001365300.1

EC 3.6.4.12

NP_001365301.1

EC 3.6.4.12

NP_060166.2

EC 3.6.4.12

NP_694987.1

EC 3.6.4.12

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_041822.1 RefSeqGene

Range

5004..126708

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001378356.1 → NP_001365285.1 DNA helicase MCM9 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variants 1 and 4, encodes isoform 1.

Source sequence(s)

AL132874, AL359634

Consensus CDS

CCDS56447.1

UniProtKB/Swiss-Prot

B4DR30, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5, Q9NXL9

Related

ENSP00000314505.5, ENST00000316316.10

Conserved Domains (3) summary

PTZ00449
Location:751 → 1113

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd17760
Location:305 → 603

MCM9; DNA helicase Mcm9

pfam17207
Location:116 → 243

MCM_OB; MCM OB domain
NM_001378357.1 → NP_001365286.1 DNA helicase MCM9 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 1 and 3, encodes isoform 1.

Source sequence(s)

AL132874, AL359634

Consensus CDS

CCDS56447.1

UniProtKB/Swiss-Prot

B4DR30, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5, Q9NXL9

Conserved Domains (3) summary

PTZ00449
Location:751 → 1113

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd17760
Location:305 → 603

MCM9; DNA helicase Mcm9

pfam17207
Location:116 → 243

MCM_OB; MCM OB domain
NM_001378358.1 → NP_001365287.1 DNA helicase MCM9 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 2, encodes isoform 2.

Source sequence(s)

AL132874

Consensus CDS

CCDS5121.1

UniProtKB/TrEMBL

A0A0S2Z662, B3KV41

Conserved Domains (1) summary

COG1241
Location:10 → 385

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378359.1 → NP_001365288.1 DNA helicase MCM9 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variant 7, encodes isoform 3.

Source sequence(s)

AL132874, AL359634

Conserved Domains (2) summary

cd17760
Location:305 → 603

MCM9; DNA helicase Mcm9

pfam17207
Location:116 → 243

MCM_OB; MCM OB domain
NM_001378360.1 → NP_001365289.1 DNA helicase MCM9 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 6, encodes isoform 3.

Source sequence(s)

AL132874, AL359634

Conserved Domains (2) summary

cd17760
Location:305 → 603

MCM9; DNA helicase Mcm9

pfam17207
Location:116 → 243

MCM_OB; MCM OB domain
NM_001378361.1 → NP_001365290.1 DNA helicase MCM9 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 9 and 10, encodes isoform 4.

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:34 → 319

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378362.1 → NP_001365291.1 DNA helicase MCM9 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 8 and 10, encodes isoform 4.

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:34 → 319

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378363.1 → NP_001365292.1 DNA helicase MCM9 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 8 and 9, encodes isoform 4.

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:34 → 319

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378364.1 → NP_001365293.1 DNA helicase MCM9 isoform 5

Status: REVIEWED

Source sequence(s)

AL132874, AL359634

Conserved Domains (3) summary

PTZ00449
Location:683 → 1045

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

COG1241
Location:10 → 511

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

cl28901
Location:305 → 535

MCM; MCM helicase family
NM_001378365.1 → NP_001365294.1 DNA helicase MCM9 isoform 6

Status: REVIEWED

Source sequence(s)

AL132874, FP885910

Conserved Domains (2) summary

PHA03307
Location:365 → 631

PHA03307; transcriptional regulator ICP4; Provisional

COG1241
Location:10 → 384

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378366.1 → NP_001365295.1 DNA helicase MCM9 isoform 7

Status: REVIEWED

Source sequence(s)

AL132874, AL359634

Conserved Domains (2) summary

COG1241
Location:10 → 563

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

cd17760
Location:302 → 561

MCM9; DNA helicase Mcm9
NM_001378367.1 → NP_001365296.1 DNA helicase MCM9 isoform 8

Status: REVIEWED

Source sequence(s)

AL132874, AL359634

Conserved Domains (2) summary

cd17760
Location:239 → 537

MCM9; DNA helicase Mcm9

pfam17207
Location:50 → 177

MCM_OB; MCM OB domain
NM_001378368.1 → NP_001365297.1 DNA helicase MCM9 isoform 9

Status: REVIEWED

Source sequence(s)

AL132874

UniProtKB/TrEMBL

B3KV41

Conserved Domains (1) summary

COG1241
Location:10 → 343

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378369.1 → NP_001365298.1 DNA helicase MCM9 isoform 10

Status: REVIEWED

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:10 → 286

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378370.1 → NP_001365299.1 DNA helicase MCM9 isoform 11

Status: REVIEWED

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:34 → 277

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378371.1 → NP_001365300.1 DNA helicase MCM9 isoform 12

Status: REVIEWED

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:10 → 233

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_001378372.1 → NP_001365301.1 DNA helicase MCM9 isoform 13

Status: REVIEWED

Source sequence(s)

AL132874

Conserved Domains (1) summary

COG1241
Location:34 → 220

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]
NM_017696.3 → NP_060166.2 DNA helicase MCM9 isoform 1

See identical proteins and their annotated locations for NP_060166.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).

Source sequence(s)

AL132874, AL359634

Consensus CDS

CCDS56447.1

UniProtKB/Swiss-Prot

B4DR30, B9DI77, Q2KHJ0, Q8N5S5, Q9HCV5, Q9NXL9

Related

ENSP00000480469.1, ENST00000619706.5

Conserved Domains (3) summary

PTZ00449
Location:751 → 1113

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

cd17760
Location:305 → 603

MCM9; DNA helicase Mcm9

pfam17207
Location:116 → 243

MCM_OB; MCM OB domain
NM_153255.5 → NP_694987.1 DNA helicase MCM9 isoform 2

See identical proteins and their annotated locations for NP_694987.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate 3' terminal exon and lacks 6 exons in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).

Source sequence(s)

AL132874

Consensus CDS

CCDS5121.1

UniProtKB/TrEMBL

A0A0S2Z662, B3KV41

Related

ENSP00000312870.3, ENST00000316068.7

Conserved Domains (1) summary

COG1241
Location:10 → 385

Mcm2; DNA replicative helicase MCM subunit Mcm2, Cdc46/Mcm family [Replication, recombination and repair]

RNA

NR_165493.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL132874, AL359634
NR_165494.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL132874