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The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]
MCM3AP (Minichromosome Maintenance Complex Component 3 Associated Protein) is a Protein Coding gene. Diseases associated with MCM3AP include Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development and Charcot-Marie-Tooth Disease. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups. An important paralog of this gene is LENG8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003682 | chromatin binding | IDA | 23652018 |
GO:0004402 | histone acetyltransferase activity | IEA,IDA | 23652018 |
GO:0005515 | protein binding | IPI | 23591820 |
GO:0010484 | H3 histone acetyltransferase activity | IDA | 23652018 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005635 | nuclear envelope | IEA | -- |
GO:0005643 | nuclear pore | IEA | -- |
GO:0005654 | nucleoplasm | IEA,IDA | -- |
GO:0005694 | chromosome | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0006406 | mRNA export from nucleus | IBA | 21873635 |
GO:0015031 | protein transport | IEA | -- |
GO:0016446 | somatic hypermutation of immunoglobulin genes | IDA | 23652018 |
GO:0016573 | histone acetylation | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: |
ExUns: | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | - | ||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: | |||||||||||||||||||
SP9: | |||||||||||||||||||
SP10: | |||||||||||||||||||
SP11: | |||||||||||||||||||
SP12: | |||||||||||||||||||
SP13: | |||||||||||||||||||
SP14: | |||||||||||||||||||
SP15: | |||||||||||||||||||
SP16: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MCM3AP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MCM3AP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MCM3AP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mcm3ap 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mcm3ap 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MCM3AP 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MCM3AP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MCM3AP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MCM3AP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mcm3ap 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mcm3ap 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | xmas-2 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F20D12.2 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SAC3 31 33 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
707837 | Likely Benign: not provided | 46,283,819(-) | C/T | SYNONYMOUS_VARIANT | |
717278 | Likely Benign: not provided | 46,242,796(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
718693 | Benign: not provided | 46,284,339(-) | G/C | SYNONYMOUS_VARIANT | |
722689 | Likely Benign: not provided | 46,243,685(-) | G/A | SYNONYMOUS_VARIANT | |
725171 | Conflicting Interpretations: not provided | 46,254,837(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7926n54 | CNV | loss | 21841781 |
dgv7927n54 | CNV | gain | 21841781 |
dgv7928n54 | CNV | loss | 21841781 |
esv22993 | CNV | loss | 19812545 |
esv2393806 | CNV | deletion | 18987734 |
esv2641041 | CNV | deletion | 19546169 |
esv3557870 | CNV | deletion | 23714750 |
esv3647165 | CNV | loss | 21293372 |
esv6085 | CNV | gain | 19470904 |
esv8319 | CNV | loss | 19470904 |
nsv1060978 | CNV | gain | 25217958 |
nsv1072612 | CNV | deletion | 25765185 |
nsv3547 | CNV | insertion | 18451855 |
nsv470910 | CNV | gain | 18288195 |
nsv509804 | CNV | insertion | 20534489 |
nsv519904 | CNV | loss | 19592680 |
nsv527355 | CNV | gain | 19592680 |
nsv587967 | CNV | loss | 21841781 |
nsv587968 | CNV | gain+loss | 21841781 |
nsv587975 | CNV | gain | 21841781 |
nsv587976 | CNV | loss | 21841781 |
nsv587977 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
|
|
charcot-marie-tooth disease |
|
|
neuropathy |
|
|
meier-gorlin syndrome 8 |
|
|
deafness, autosomal dominant 70 |
|
|