| Gene Symbol |
MBD1
|
| Entrez Gene |
4152
|
| Alt Symbol |
CXXC3, PCM1, RFT
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
methyl-CpG binding domain protein 1
|
| Other Description |
CXXC-type zinc finger protein 3|methyl-CpG binding domain protein 1 isoform PCM1|methyl-CpG-binding domain protein 1|protein containing methyl-CpG-binding domain 1|the regulator of fibroblast growth factor 2 (FGF-2) transcription
|
| Swissprots |
K7ESN0 E9PEC5 Q9UNZ8 A4UTZ0 O95241 K7ELI2 Q9UIS9 Q9UNZ6 Q8N4W4 K7EQZ4 Q7Z7B5 B4DXJ5 O15248 Q9UNZ7 Q9UNZ9
|
| Accessions |
AAD50371 EAW62962 EAW62963 EAW62964 EAW62965 EAW62966 EAW62967 Q9UIS9 AB209765 BAD93002 AF072241 AAC68870 AF078830 AAD51442 AF078831 AAD51443 AF078832 AAD51444 AF078833 AAD51445 AJ564845 CAD92308 AK225889 AK225948 AK291519 BAF84208 AK295401 BAG58353 AK300759 BAG62425 AK302004 BAG63407 BC033242 AAH33242 BC047353 BP384783 CD723822 DB458244 DC403953 EF488685 ABP02056 Y10746 CAA71735 XM_005258271 XP_005258328 XM_006722456 XP_006722519 XM_011525987 XP_011524289 XM_011525988 XP_011524290 XM_011525989 XP_011524291 XM_011525990 XP_011524292 XM_011525991 XP_011524293 XM_011525992 XP_011524294 XM_011525993 XP_011524295 XM_011525994 XP_011524296 XM_011525995 XP_011524297 XM_011525996 XP_011524298 XM_011525997 XP_011524299 XM_011525998 XP_011524300 XM_011525999 XP_011524301 XM_011526000 XP_011524302 XM_011526001 XP_011524303 XM_011526002 XP_011524304 XM_011526003 XP_011524305 XM_011526004 XP_011524306 XM_011526005 XP_011524307 XM_011526006 XP_011524308 XM_011526007 XP_011524309 NM_001204136 NP_001191065 NM_001204137 NP_001191066 NM_001204138 NP_001191067 NM_001204139 NP_001191068 NM_001204140 NP_001191069 NM_001204141 NP_001191070 NM_001204142 NP_001191071 NM_001204143 NP_001191072 NM_001204151 NP_001191080 NM_002384 NP_002375 NM_015844 NP_056669 NM_015845 NP_056670 NM_015846 NP_056671 NM_015847 NP_056723
|
| Function |
Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Isoform 1 and isoform 2 can also repress transcription from unmethylated promoters. {ECO:0000269|PubMed:10454587, ECO:0000269|PubMed:10648624, ECO:0000269|PubMed:12665582, ECO:0000269|PubMed:12697822, ECO:0000269|PubMed:12711603, ECO:0000269|PubMed:14555760, ECO:0000269|PubMed:14610093, ECO:0000269|PubMed:15327775, ECO:0000269|PubMed:9207790, ECO:0000269|PubMed:9774669}.
|
| Subcellular Location |
Nucleus {ECO:0000250}. Nucleus matrix {ECO:0000250}. Nucleus speckle. Chromosome. Note=Colocalizes with the Ten-1 ICD form of TENM1 in foci associated with the nuclear matrix (By similarity). Nuclear, in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes. {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed. {ECO:0000269|PubMed:9207790}.
|