Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4174
Gene name	Minichromosome maintenance complex component 5
Gene symbol	MCM5
Synonyms (NCBI Gene)	CDC46MGORS8P1-CDC46
Chromosome	22
Chromosome location	22q12.3
Summary	The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interac

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs760621295	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131692169	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (45)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005462	hsa-miR-885-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern blot	21233845
MIRT016518	hsa-miR-193b-3p	Proteomics	21512034
MIRT016518	hsa-miR-193b-3p	Microarray	20304954
MIRT023962	hsa-miR-1-3p	Proteomics	18668040
MIRT025521	hsa-miR-34a-5p	Proteomics	21566225
MIRT025521	hsa-miR-34a-5p	Proteomics	21566225
MIRT050677	hsa-miR-18a-5p	CLASH	23622248
MIRT048840	hsa-miR-93-5p	CLASH	23622248
MIRT041977	hsa-miR-484	CLASH	23622248
MIRT1137741	hsa-miR-1827	CLIP-seq
MIRT1137742	hsa-miR-191	CLIP-seq
MIRT1137743	hsa-miR-2467-3p	CLIP-seq
MIRT1137744	hsa-miR-3119	CLIP-seq
MIRT1137745	hsa-miR-3150a-3p	CLIP-seq
MIRT1137746	hsa-miR-3175	CLIP-seq
MIRT1137747	hsa-miR-329	CLIP-seq
MIRT1137748	hsa-miR-3612	CLIP-seq
MIRT1137749	hsa-miR-362-3p	CLIP-seq
MIRT1137750	hsa-miR-4257	CLIP-seq
MIRT1137751	hsa-miR-4477a	CLIP-seq
MIRT1137752	hsa-miR-4795-3p	CLIP-seq
MIRT1137753	hsa-miR-491-5p	CLIP-seq
MIRT1137754	hsa-miR-650	CLIP-seq
MIRT1137755	hsa-miR-939	CLIP-seq
MIRT2039111	hsa-miR-1197	CLIP-seq
MIRT2039112	hsa-miR-1286	CLIP-seq
MIRT2039113	hsa-miR-214	CLIP-seq
MIRT2039114	hsa-miR-3117-5p	CLIP-seq
MIRT2039115	hsa-miR-3619-5p	CLIP-seq
MIRT2039116	hsa-miR-3667-3p	CLIP-seq
MIRT2039117	hsa-miR-4436a	CLIP-seq
MIRT2039118	hsa-miR-4448	CLIP-seq
MIRT2039119	hsa-miR-761	CLIP-seq
MIRT1137741	hsa-miR-1827	CLIP-seq
MIRT1137743	hsa-miR-2467-3p	CLIP-seq
MIRT1137745	hsa-miR-3150a-3p	CLIP-seq
MIRT1137746	hsa-miR-3175	CLIP-seq
MIRT2269161	hsa-miR-3184	CLIP-seq
MIRT1137748	hsa-miR-3612	CLIP-seq
MIRT1137750	hsa-miR-4257	CLIP-seq
MIRT2269162	hsa-miR-4446-3p	CLIP-seq
MIRT2269163	hsa-miR-4721	CLIP-seq
MIRT1137753	hsa-miR-491-5p	CLIP-seq
MIRT1137754	hsa-miR-650	CLIP-seq
MIRT1137755	hsa-miR-939	CLIP-seq

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Transcription factor	Regulation	Reference
E2F1	Unknown	17210690
MYCN	Activation	17826980

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0003677	Function	DNA binding	IEA
GO:0003688	Function	DNA replication origin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	12364596, 15232106, 16899510, 17296731, 19150984, 19862764, 21149733, 22540012, 23764002, 24299456, 25036637, 28514442, 33654309, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22474384
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8751386
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006260	Process	DNA replication	IDA	22474384
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	TAS	8751386
GO:0006270	Process	DNA replication initiation	IBA
GO:0006270	Process	DNA replication initiation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017116	Function	Single-stranded DNA helicase activity	IBA
GO:0030174	Process	Regulation of DNA-templated DNA replication initiation	NAS	30069701
GO:0042555	Component	MCM complex	IBA
GO:0042555	Component	MCM complex	IDA	17296731
GO:0042555	Component	MCM complex	IEA
GO:0042555	Component	MCM complex	IPI	22540012
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0071162	Component	CMG complex	IEA
GO:0071162	Component	CMG complex	IPI	22474384
GO:0071162	Component	CMG complex	ISS

MIM	HGNC	e!Ensembl
602696	6948	ENSG00000100297

P33992

Protein name

DNA replication licensing factor MCM5 (EC 3.6.4.12) (CDC46 homolog) (P1-CDC46)

Protein function

Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the mol

PDB

6XTX , 6XTY , 7PFO , 7PLO , 7W1Y , 7W68 , 8B9D , 8S09 , 8S0A , 8S0B , 8S0D , 8S0E , 8S0F , 8W0E , 8W0F , 8W0G , 8W0I , 9CAQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14551	MCM_N	32 → 130	MCM N-terminal domain	Domain
PF17207	MCM_OB	136 → 273	MCM OB domain	Domain
PF00493	MCM	318 → 540	MCM P-loop domain	Domain
PF17855	MCM_lid	557 → 648	MCM AAA-lid domain	Domain

Sequence

MSGFDDPGIFYSDSFGGDAQADEGQARKSQLQRRFKEFLRQYRVGTDRTGFTFKYRDELK
RHYNLGEYWIEVEMEDLASFDEDLADYLYKQPAEHLQLLEEAAKEVADEVTRPRPSGEEV
LQDIQVMLKSDASPSSIRSLKSDMMSHLVKIPGIIIAASAVRAKATRISIQCRSCRNTLT
NIAMRPGLEGYALPRKCNTDQAGRPKCPLDPYFIMPDKCKCVDFQTLKLQELPDAVPHGE
MPRHMQLYCDRYLCDKVVPGNRVTIMGIYSIKKFGLTTSRGRDRVGVGIRSSYIRVLGIQ
VDTDGSGRSFAGAVSPQEEEEFRRLAALPNVYEVISKSIAPSIFGGTDMKKAIACLLFGG
SRKRLPDGLTRRGDINLLMLGDPGTAKSQLLKFVEKCSPIGVYTSGKGSSAAGLTASVMR
DPSSRNFIMEGGAMVLADGGVVCIDEFDKMREDDRVAIHEAMEQQTISIAKAGITTTLNS
RCSVLAAANSVFGRWDETKGEDNIDFMPTILSRFDMIFIVKDEHNEERDVMLAKHVITLH
VSALTQTQAVEGEIDLAKLKKFIAYCRVKCGPRLSAEAAEKLKNRYIIMRSGARQHERDS
DRRSSIPITVRQLEAIVRIAEALSKMKLQPFATEADVEEALRLFQVSTLDAALSGTLSGV
EGFTSQEDQEMLSRIEKQLKRRFAIGSQVSEHSIIKDFTKQKYPEHAIHKVLQLMLRRGE
IQHRMQRKVLYRLK

Sequence length

734

Interactions

View interactions

	KEGG		Reactome
	DNA replication Cell cycle		Activation of ATR in response to replication stress Assembly of the pre-replicative complex Orc1 removal from chromatin Activation of the pre-replicative complex Switching of origins to a post-replicative state

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Meier-Gorlin syndrome 8	Pathogenic	rs1131692169	RCV000495569

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2307338	RCV005909893
Clear cell carcinoma of kidney	Uncertain significance	rs747974884	RCV005928566
Colorectal cancer	Likely benign	rs375480994	RCV005930390
Gastric cancer	Benign	rs2307338	RCV005909894
Malignant tumor of urinary bladder	Likely benign	rs375480994	RCV005930389
MCM5-related disorder	Benign; Likely benign	rs133427, rs133417, rs2307340, rs112123125, rs146948801, rs190706651, rs908448958, rs769921753, rs375136391, rs12170872, rs2230933, rs2307338	RCV003978859 RCV003978546 RCV003973339 RCV003923541 RCV003916365 RCV003966537 RCV003909054 RCV003929312 RCV003912111 RCV003943088 RCV003936011 RCV003915965
Ovarian serous cystadenocarcinoma	Benign	rs2307338	RCV005909895
Squamous cell carcinoma of the head and neck	Uncertain significance	rs943273071	RCV005925433

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Stimulate	17940502
Adenocarcinoma	Associate	29871972
Adenocarcinoma of Lung	Associate	31323040, 31545501, 34996932, 35360518, 37517032
Aneuploidy	Associate	35347416
Barrett Esophagus	Associate	11839717
Breast Neoplasms	Associate	25596707, 32830194
Carcinogenesis	Associate	20648010, 28443473
Carcinoma Hepatocellular	Associate	31011256, 32311821, 32964028
Carcinoma Non Small Cell Lung	Associate	37925171
Carcinoma Squamous Cell	Associate	11839717, 12966424, 15696126, 29228452
Carcinoma Squamous Cell	Stimulate	28443473, 31653153, 36445337
Colorectal Neoplasms	Associate	24555920, 30937307, 35496037, 37029300
COVID 19	Associate	37486005
Dwarfism	Associate	29036220
Dyspepsia	Associate	15266314
Endometrial Hyperplasia	Associate	33059604
Endometrial Neoplasms	Associate	33059604
Esophageal Squamous Cell Carcinoma	Associate	11839717
Fetal Growth Retardation	Associate	28198391
Leiomyoma	Associate	34449552
Leukemia Myeloid Acute	Associate	29286103, 30480765, 36479666
Lung Neoplasms	Stimulate	35360518
Meier Gorlin syndrome	Associate	28198391, 29036220, 33654309
Meningioma	Stimulate	19877719
Multiple Myeloma	Associate	39985176
Neoplasm Metastasis	Associate	29871972
Neoplasms	Stimulate	15266314, 33059604, 34408205
Neoplasms	Associate	17940502, 18414413, 25046975, 32830194, 32964028, 32989049, 34850971
Neoplasms	Inhibit	24555920
Ovarian Neoplasms	Associate	17940502, 33059604
Pancreatic Neoplasms	Associate	27695057
Pituitary dwarfism 1	Associate	33654309
Polycystic Ovary Syndrome	Associate	37132453
Prodromal Symptoms	Associate	37029300
Prostatic Neoplasms	Associate	20648010
Prostatitis	Associate	20648010
Retinal Dysplasia	Associate	18414413
Squamous Cell Carcinoma of Head and Neck	Associate	34111560
Squamous Intraepithelial Lesions	Associate	31653153
Stomach Neoplasms	Associate	29884122
Thyroid Neoplasms	Associate	37864896
Urinary Bladder Neoplasms	Associate	18414413, 32745350, 32924986
Uterine Cervical Dysplasia	Associate	15696126, 15858126
Uterine Cervical Dysplasia	Stimulate	28443473
Uterine Cervical Neoplasms	Stimulate	15696126
Uterine Cervical Neoplasms	Associate	15858126, 23874974, 34530829, 38453655

MCM5 (minichromosome maintenance complex component 5)