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MBD1

GENERAL INFORMATION

Gene name

 MBD1

Gene description

 Methyl-CpG binding domain protein 1

Protein class

 Cancer-related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 20
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
CAB009017 , CAB036003
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 MBD1 (HGNC Symbol)

Synonyms

 CXXC3, PCM1

Description

 Methyl-CpG binding domain protein 1 (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]

Chromosome

 18

Cytoband

 q21.1

Chromosome location (bp)

 50266882 - 50281774

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000141644 (version 83.38)

Entrez gene

 4152

UniProt

 Q9UIS9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UIS9

Antibodypedia

 MBD1 antibodies

PROTEIN BROWSER
«
MBD1-001
MBD1-002
MBD1-003
MBD1-004
MBD1-005
MBD1-007
MBD1-008
MBD1-009
MBD1-010
MBD1-011
MBD1-012
MBD1-013
MBD1-014
MBD1-016
MBD1-024
MBD1-025
MBD1-026
MBD1-201
MBD1-202
MBD1-203
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MBD1-001
ENSP00000381506
ENST00000398493
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 549 aa
60 kDa 		No 0
MBD1-002
ENSP00000269469
ENST00000353909
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 556 aa
61.3 kDa 		No 0
MBD1-003
ENSP00000381502
ENST00000398488
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 503 aa
55.2 kDa 		No 0
MBD1-004
ENSP00000467017
ENST00000591416
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 605 aa
66.6 kDa 		No 0
MBD1-005
ENSP00000372407
ENST00000382948
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 605 aa
66.6 kDa 		No 0
MBD1-007
ENSP00000468430
ENST00000585595
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 630 aa
69.6 kDa 		No 0
MBD1-008
ENSP00000466092
ENST00000585672
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 567 aa
62.6 kDa 		No 0
MBD1-009
ENSP00000467606
ENST00000592060
K7EPZ6 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0008270 [zinc ion binding]
Show all
 416 aa
45.8 kDa 		No 0
MBD1-010
ENSP00000339546
ENST00000339998
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 550 aa
60.8 kDa 		No 0
MBD1-011
ENSP00000468785
ENST00000590208
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007507 [heart development]
GO:0007568 [aging]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0010629 [negative regulation of gene expression]
GO:0014070 [response to organic cyclic compound]
GO:0014076 [response to fluoxetine]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0030182 [neuron differentiation]
GO:0031667 [response to nutrient levels]
GO:0032355 [response to estradiol]
GO:0042220 [response to cocaine]
GO:0044030 [regulation of DNA methylation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0048712 [negative regulation of astrocyte differentiation]
Show all
 655 aa
72.1 kDa 		No 0
MBD1-012
ENSP00000468042
ENST00000587605
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 535 aa
58.8 kDa 		No 0
MBD1-013
ENSP00000405268
ENST00000457839
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 630 aa
69.6 kDa 		No 0
MBD1-014
ENSP00000465923
ENST00000591535
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 536 aa
59.2 kDa 		No 0
MBD1-016
ENSP00000467763
ENST00000588937
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 586 aa
64.7 kDa 		No 0
MBD1-024
ENSP00000466806
ENST00000589541
K7EN65 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
 240 aa
25.7 kDa 		No 0
MBD1-025
ENSP00000466429
ENST00000589733
K7EMA9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0008270 [zinc ion binding]
Show all
 256 aa
28.2 kDa 		No 0
MBD1-026
ENSP00000381508
ENST00000398495
A0A0A0MS90 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0008270 [zinc ion binding]
Show all
 566 aa
62.4 kDa 		No 0
MBD1-201
ENSP00000269468
ENST00000269468
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 605 aa
66.6 kDa 		No 0
MBD1-202
ENSP00000269471
ENST00000269471
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 586 aa
64.7 kDa 		No 0
MBD1-203
ENSP00000285102
ENST00000347968
Q9UIS9 [Direct mapping]
Methyl-CpG-binding domain protein 1
Show all
Predicted intracellular proteins
Transcription factors
   Zinc-coordinating DNA-binding domains
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006346 [methylation-dependent chromatin silencing]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008270 [zinc ion binding]
GO:0008327 [methyl-CpG binding]
GO:0010385 [double-stranded methylated DNA binding]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
 549 aa
60 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.