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FLASH GENE

Symbol

MCM9

contributors: npt/mct/pgu - updated : 12-04-2021

HGNC name	minichromosome maintenance complex component 9
HGNC id	21484

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ODG4 ovarian dysgenesis 4
Location	6q22.31      Physical location : 119.231.763 - 119.256.303
Synonym name	minichromosome maintenance deficient domain containing 1
	chromosome 6 open reading frame 61
	DNA replication licensing factor MCM9
Synonym symbol(s)	MGC35304, dJ329L24.3, MCMDC1, C6orf61, FLJ13942, FLJ20170, dJ329L24.1, ODG4,
EC.number	3.6.4.12

DNA

TYPE	functioning gene
STRUCTURE	24.00 kb     7 Exon(s)

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	transcription factor E2F-binding motifs in the vicinity of the transcription start site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153255 7 - 2507 NP_694987 - 391 - 2011 21987787 MCM9S, that contains a partial MCM domain, with Walker A-type ATPase motif, but not a Walker B domain NM_017696 12 - 4822 NP_060166 - 1143 - 2011 21987787 MCM9L predicted to contain both the Walker A and B motifs required for helicase activity

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune lymph node       highly Nervous brain         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal DNA binding domain
	an MCM8-like ATP binding and hydrolysis motif implicated in helicase activity
	AAA+ core domain
	a unique C-terminal domain which has only weak homology to MCM2-7 and MCM8 but is conserved within MCM9 homologs

HOMOLOGY

interspecies

homolog to murine Mcmdc1

intraspecies

paralog to MCM8

Homologene

FAMILY

MCM family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	may be essential for the initiation of DNA replication
	only present in the genome of higher eukaryotes
	with MCM8, are my be involved in DNA replication although their exact roles are unclear
	during gametogenesis, MCM9 is critical for homologous recombination (HR) in the repair of DNA double-stranded breaks (DSBs) and stabilization of broken or stalled DNA replication forks
	evolved a specialized but nonessential role in DNA replication or replication-linked quality-control mechanisms that are especially important for germ-line stem cells, and also for tumor suppression and genome maintenance in the soma
	is not required for DNA replication
	during DNA interstrand crosslinks repair, MCM8 and MCM9 form nuclear foci that partly colocalize with RAD51
	essential functions of MCM8 and MCM9 in homologous recombination -mediated DSB repair during gametogenesis, replication fork maintenance, and DNA repair
	implicated in DNA prereplication complex (pre-RC) formation
	in the germline, the MCM8-MCM9 complex is most likely required for the resolution of DSBs that occur during HR between homologous chromosomes in pachytene of meiosis I
	role for MCM9 and its helicase activity in mammalian DNA mismatch repair (MMR)
	stalled replication forks can be restarted in S phase via homologous recombination using MCM8-9 as an alternative replicative helicase

CELLULAR PROCESS

nucleotide, replication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

nucleic

signaling

a component	MCM8 and MCM9 form a complex and they coregulate their stability
	MCM8-MCM9 complex promotes RAD51 recruitment at DNA damage sites to facilitate homologous recombination

INTERACTION

DNA

binding

RNA

small molecule	nucleotide,
	ATP

protein

MCM8 is required for the stability of MCM9 protein in mammalian cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ODG4

Susceptibility

to nondisjunction of chromosome 21 during meiosis I within oocyte and to birth of child with Down syndrome

Variant & Polymorphism other	maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Mcm9 deficiency mouse have defect in spermatogonial self-renewal during adulthood, and distinct sex-specific cancers
	MCM9(-/-) testes produce spermatozoa, albeit in much reduced quantity
	Mcm9-deficient mice have gonadal failure, and fibroblasts from these mice show hypersensitivity to agents that induce DSBs and DNA crosslinks (i.e., ionizing radiation and MMC), resulting in a higher number of broken chromosomes, a hallmark of genomic instability