| HGNC approved symbol | HGNC ID | HGNC approved name | Entrez gene ID | UniProt AC (human) | UniProt ID (human) | Pfam domains | MGI symbol | MGI ID | UniProt AC (mouse) | UniProt ID (mouse) | HGNC gene family tag | HGNC gene family description | Function | Modification | PMID for information on function | Protein complex | Target molecule | Target entity | Product | PMID for information on target | Comment | Status of entry |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
BRCA1
(details) |
1100 | breast cancer 1, early onset | 672 | P38398 | BRCA1_HUMAN | zf-C3HC4 PF00097 24-64, BRCT_assoc PF12820 361-492, BRCT PF00533 1649-1724 1758-1845 | Brca1 | 104537 | P48754 | BRCA1_MOUSE | RNF, PPP1R | RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits | Histone modification write cofactor, TF | Histone acetylation, Histone methylation, Histone ubiquitination, TF activator, TF repressor | 20820192 | BRCC, BRCA1-A | DNA | DNA motif | # | 20820192 | BRCA1 acts as a transcription factor, which regulates expression of many genes involved in many biological processes. DNMT1, the methylation maintenance enzyme, is a transcriptional target of BRCA1. Impaired function of BRCA1 leads to global DNA hypomethylation, loss of genomic imprinting, and an open chromatin configuration in several types of tissues examined in a BRCA1 mutant mouse model at premaligant stages. BRCA1 deficiency is also associated with significantly increased expression levels of several protooncogenes. | # |
|
DNMT1
(details) |
2976 | DNA (cytosine-5-)-methyltransferase 1 | 1786 | P26358 | DNMT1_HUMAN | DMAP_binding PF06464 19-101, DNMT1-RFD PF12047 394-535, zf-CXXC PF02008 646-691, BAH PF01426 755-878 931-1100, DNA_methylase PF00145 1140-1592 | Dnmt1 | 94912 | P13864 | DNMT1_MOUSE | # | # | DNA modification | DNA methylation | 18754681 | # | DNA | dhC | dhU | 18754681 | The CXXC region (C is cysteine; X is any amino acid) of DNMT1 binds specifically to unmethylated CpG dinucleotides. Thus, the CXXC domain encompassing the amino terminus region of DNMT1 cooperates with the catalytic domain for DNA methyltransferase activity. | # |
|
UBR7
(details) |
20344 | ubiquitin protein ligase E3 component n-recognin 7 (putative) | 55148 | Q8N806 | UBR7_HUMAN | zf-UBR PF02207 46-112 | Ubr7 | 1913872 | Q8BU04 | UBR7_MOUSE | UBR | Ubiquitin protein ligase E3 component n-recognins | DNA modification cofactor | DNA methylation | 21745816 | # | DNA | # | # | 21745816 | Part of the DNMT1/USP7/UHRF1 complex which increases DNA methylation efficiency. | # |