Gene Gene information from NCBI Gene database.
Entrez ID 4172
Gene name Minichromosome maintenance complex component 3
Gene symbol MCM3
Synonyms (NCBI Gene)
HCC5P1-MCM3P1.hRLFB
Chromosome 6
Chromosome location 6p12.2
Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT016314 hsa-miR-193b-3p Microarray 20304954
MIRT023522 hsa-miR-1-3p Proteomics 18668040
MIRT024312 hsa-miR-215-5p Microarray 19074876
MIRT025232 hsa-miR-34a-5p Proteomics 21566225
MIRT026151 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYCN Activation 17826980
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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:0003677 Function DNA binding TAS 1549468
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602693 6945 ENSG00000112118
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25205
Protein name DNA replication licensing factor MCM3 (EC 3.6.4.12) (DNA polymerase alpha holoenzyme-associated protein P1) (P1-MCM3) (RLF subunit beta) (p102)
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 13 158 MCM N-terminal domain Domain
PF17207 MCM_OB 110 245 MCM OB domain Domain
PF00493 MCM 280 505 MCM P-loop domain Domain
PF17855 MCM_lid 566 653 MCM AAA-lid domain Domain
Sequence
MAGTVVLDDVELREAQRDYLDFLDDEEDQGIYQSKVRELISDNQYRLIVNVNDLRRKNEK
RANRLLNNAFEELVAFQRALKDFVASIDATYAKQYEEFYVGLEGSFGSK
HVSPRTLTSCF
LSCVVCVEGIVTKCSLVRPKVVRSVHYCPATKKTIERR
YSDLTTLVAFPSSSVYPTKDEE
NNPLETEYGLSVYKDHQTITIQEMPEKAPAGQLPRSVDVILDDDLVDKAKPGDRVQVVGT
YRCLP
GKKGGYTSGTFRTVLIACNVKQMSKDAQPSFSAEDIAKIKKFSKTRSKDIFDQLA
KSLAPSIHGHDYVKKAILCLLLGGVERDLENGSHIRGDINILLIGDPSVAKSQLLRYVLC
TAPRAIPTTGRGSSGVGLTAAVTTDQETGERRLEAGAMVLADRGVVCIDEFDKMSDMDRT
AIHEVMEQGRVTIAKAGIHARLNARCSVLAAANPVYGRYDQYKTPMENIGLQDSLLSRFD
LLFIMLDQMDPEQDREISDHVLRMH
RYRAPGEQDGDAMPLGSAVDILATDDPNFSQEDQQ
DTQIYEKHDNLLHGTKKKKEKMVSAAFMKKYIHVAKIIKPVLTQESATYIAEEYSRLRSQ
DSMSSDTARTSPVTARTLETLIRLATAHAKARMSKTVDLQDAEEAVELVQYAY
FKKVLEK
EKKRKKRSEDESETEDEEEKSQEDQEQKRKRRKTRQPDAKDGDSYDPYDFSDTEEEMPQV
HTPKTADSQETKESQKVELSESRLKAFKVALLDVFREAHAQSIGMNRLTESINRDSEEPF
SSVEIQAALSKMQDDNQVMVSEGIIFLI
Sequence length 808
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 26840709, 31323040, 31545501
★☆☆☆☆
Found in Text Mining only
Adenoma Pleomorphic Associate 23886132, 26790448
★☆☆☆☆
Found in Text Mining only
Adrenal Insufficiency Associate 33654309
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Associate 30413320
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Associate 26823641
★☆☆☆☆
Found in Text Mining only
Astrocytoma Stimulate 25046975
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Associate 25809478
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 23098454
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 20648010, 24386425, 38200573, 39766782
★☆☆☆☆
Found in Text Mining only
Carcinoma Associate 28547962
★☆☆☆☆
Found in Text Mining only