Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4173
Gene name Gene Name - the full gene name approved by the HGNC.
Minichromosome maintenance complex component 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCM4
Synonyms (NCBI Gene) Gene synonyms aliases
CDC21, CDC54, IMD54, NKCD, NKGCD, P1-CDC21, hCdc21
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016612 hsa-miR-193b-3p Microarray 20304954
MIRT016612 hsa-miR-193b-3p Proteomics 21512034
MIRT023946 hsa-miR-1-3p Proteomics 18668040
MIRT025322 hsa-miR-34a-5p Proteomics 21566225
MIRT025322 hsa-miR-34a-5p Proteomics 21566225
Transcription factors
Transcription factor Regulation Reference
MYCN Activation 17826980
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0003678 Function DNA helicase activity IDA 9305914, 25661590
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602638 6947 ENSG00000104738
Protein
UniProt ID P33991
Protein name DNA replication licensing factor MCM4 (EC 3.6.4.12) (CDC21 homolog) (P1-CDC21)
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 , 8RWV , 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 163 264 MCM N-terminal domain Domain
PF17207 MCM_OB 270 398 MCM OB domain Domain
PF00493 MCM 445 670 MCM P-loop domain Domain
PF17855 MCM_lid 685 769 MCM AAA-lid domain Domain
Sequence
MSSPASTPSRRGSRRGRATPAQTPRSEDARSSPSQRRRGEDSTSTGELQPMPTSPGVDLQ
SPAAQDVLFSSPPQMHSSAIPLDFDVSSPLTYGTPSSRVEGTPRSGVRGTPVRQRPDLGS
AQKGLQVDLQSDGAAAEDIVASEQSLGQKLVIWGTDVNVAACKENFQRFLQRFIDPLAKE
EENVGIDITEPLYMQRLGEINVIGEPFLNVNCEHIKSFDKNLYRQLISYPQEVIPTFDMA
VNEIFFDRYPDSILEHQIQVRPFN
ALKTKNMRNLNPEDIDQLITISGMVIRTSQLIPEMQ
EAFFQCQVCAHTTRVEMDRGRIAEPSVCGRCHTTHSMALIHNRSLFSDKQMIKLQESPED
MPAGQTPHTVILFAHNDLVDKVQPGDRVNVTGIYRAVP
IRVNPRVSNVKSVYKTHIDVIH
YRKTDAKRLHGLDEEAEQKLFSEKRVELLKELSRKPDIYERLASALAPSIYEHEDIKKGI
LLQLFGGTRKDFSHTGRGKFRAEINILLCGDPGTSKSQLLQYVYNLVPRGQYTSGKGSSA
VGLTAYVMKDPETRQLVLQTGALVLSDNGICCIDEFDKMNESTRSVLHEVMEQQTLSIAK
AGIICQLNARTSVLAAANPIESQWNPKKTTIENIQLPHTLLSRFDLIFLLLDPQDEAYDR
RLAHHLVALY
YQSEEQAEEELLDMAVLKDYIAYAHSTIMPRLSEEASQALIEAYVDMRKI
GSSRGMVSAYPRQLESLIRLAEAHAKVRLSNKVEAIDVEEAKRLHREAL
KQSATDPRTGI
VDISILTTGMSATSRKRKEELAEALKKLILSKGKTPALKYQQLFEDIRGQSDIAITKDMF
EEALRALADDDFLTVTGKTVRLL
Sequence length 863
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency rs1563829725 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37491836
Adenocarcinoma Associate 27476776
Adenocarcinoma Stimulate 31093306
Adenocarcinoma of Lung Associate 31323040, 31514295, 37517032
Adenocarcinoma of Lung Stimulate 31545501
Autoimmune Diseases Associate 36263058
Barrett Esophagus Associate 27476776
Breast Neoplasms Associate 25733866, 31476594, 32830194
Breast Neoplasms Stimulate 34895070
Carcinogenesis Associate 20648010, 24386425, 26156831, 28443473, 33107155