MBD1 methyl-CpG binding domain protein 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: MBD1provided by HGNC
Official Full Name: methyl-CpG binding domain protein 1provided by HGNC
Primary source: HGNC:6916
See related: Ensembl:ENSG00000141644; HPRD:01133; MIM:156535; Vega:OTTHUMG00000132669
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RFT; PCM1; CXXC3
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]

Genomic context

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Location :: 18q21

Sequence :: Chromosome: 18; NC_000018.9 (47793252..47808144, complement)

See MBD1 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

MBD1-containing chromatin associated factor 2, epithelial malignancy-related vimentin and exocytosis-related annexin A2 were changed upon exposure to airborne nanoparticle PM(0.056).
Title: Proteomic analysis of the differentially expressed proteins by airborne nanoparticles.
This review tries to match MeCP2 structural domains, or their lack, and specific chromatin features needed for proper recruitment of MeCP2 to its functions as either activator or repressor. We specifically focused on MeCP2's role in Rett syndrome
Title: MeCP2: structure and function.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes
Title: Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes.
Results suggest that MBD1 polymorphisms might be involved in the development of lung cancer in Chinese population.
Title: Methyl-CpG binding domain 1 gene polymorphisms and lung cancer risk in a Chinese population.
some insight into the functional mechanism of MBD1 in the development of pancreatic cancer
Title: Proteomic analysis of differential proteins in pancreatic carcinomas: Effects of MBD1 knock-down by stable RNA interference.
Observational study of gene-disease association. (HuGE Navigator)
Title: Methyl-CpG binding domain 1 gene polymorphisms and lung cancer risk in a Chinese population.
These data show, for the first time, the involvement of methyl-CpG binding domain proteins in the regulation of the MAGE-A genes.
Title: Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters.
PML-RARalpha functions by recruiting an HDAC3-MBD1 complex that contributes to the establishment and maintenance of the silenced chromatin state
Title: The methyl-CpG binding protein MBD1 is required for PML-RARalpha function.
Sex-specific time windows for concomitant upregulation of MBD1 are associated with prenatal remethylation of the human male and female germ line.
Title: Sex-specific windows for high mRNA expression of DNA methyltransferases 1 and 3A and methyl-CpG-binding domain proteins 2 and 4 in human fetal gonads.

Submit: New GeneRIF Correction See all (25)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_056671.2	NP_060649.3	ATF7IP	BIND	PubMed	MCAF1 interacts with MBD1.
NP_056671.2	NP_079273.2	ATF7IP2	BIND	PubMed	MCAF2 interacts with MBD1.
NP_056723.2	NP_005474.2	CHAF1A	BIND	PubMed	MBD1 interacts with CAF-1.
NP_056723.2	NP_036564.2	SETDB1	BIND	PubMed	MBD1 interacts with SETDB1.
Q9UIS9	Activating transcription factor 7 interacting protein	ATF7IP	HPRD	PubMed
Q9UIS9	Activating transcription factor 7 interacting protein 2	ATF7IP2	HPRD	PubMed
Q9UIS9	P45973	CBX5	HPRD	PubMed
Q9UIS9	Q13111	CHAF1A	HPRD	PubMed
Q9UIS9	O15379	HDAC3	HPRD	PubMed
Q9UIS9	Q9H422	HIPK3	HPRD	PubMed
Q9UIS9	Q15646	OASL	HPRD	PubMed
Q9UIS9	O75925	PIAS1	HPRD	PubMed
Q9UIS9	O75928	PIAS2	HPRD	PubMed
Q9UIS9	Q15047	SETDB1	HPRD	PubMed
Q9UIS9	Q15797	SMAD1	HPRD	PubMed
Q9UIS9	P84022	SMAD3	HPRD	PubMed
Q9UIS9	Q99717	SMAD5	HPRD	PubMed
Q9UIS9	O15105	SMAD7	HPRD	PubMed
Q9UIS9	O15198	SMAD9	HPRD	PubMed
Q9UIS9	O43463	SUV39H1	HPRD	PubMed
BioGRID:110322	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:110322	BioGRID:120849	ATF7IP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110322	BioGRID:123097	ATF7IP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110322	BioGRID:131172	ATXN1L	BioGRID	PubMed	Two-hybrid
BioGRID:110322	BioGRID:114105	CBX4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110322	BioGRID:117030	CBX5	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:110322	BioGRID:115349	CHAF1A	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110322	BioGRID:108223	ECT2	BioGRID	PubMed	Two-hybrid
BioGRID:110322	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110322	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110322	BioGRID:109314	HTT	BioGRID	PubMed	Two-hybrid
BioGRID:110322	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110322	BioGRID:114124	PIAS1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110322	BioGRID:114523	PIAS2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110322	BioGRID:123894	PRAM1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110322	BioGRID:111972	RNF2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110322	BioGRID:202919	Rnf2	BioGRID	PubMed	Two-hybrid
BioGRID:110322	BioGRID:115202	SETDB1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110322	BioGRID:112649	STAT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110322	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110322	BioGRID:112706	SUV39H1	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:110322	BioGRID:115477	TENM1	BioGRID	PubMed	Two-hybrid
BioGRID:110322	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110322	BioGRID:121543	ZNF512B	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

General gene information

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Markers

D18S942E (e-PCR)
- UniSTS:150534

SHGC-57822 (e-PCR)
- UniSTS:49935

A009I40 (e-PCR)
- UniSTS:66872

WI-19692 (e-PCR)
- UniSTS:78183

G32567 (e-PCR)
- UniSTS:117151

RH91758 (e-PCR)
- UniSTS:84133

RH94118 (e-PCR)
- UniSTS:90825

A005R33 (e-PCR)
- UniSTS:63732

G20447 (e-PCR)
- UniSTS:63733

D18S1024 (e-PCR)
- UniSTS:758

Homology

Homologs of the MBD1 gene: The MBD1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement more info	PubMed
methyl-CpG binding	NAS Non-traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
transcription corepressor activity	TAS Traceable Author Statement more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
negative regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed
transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
heterochromatin	IEA Inferred from Electronic Annotation more info
nuclear matrix	ISS Inferred from Sequence or Structural Similarity more info
nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: methyl-CpG-binding domain protein 1

Names: methyl-CpG-binding domain protein 1; CXXC-type zinc finger protein 3; protein containing methyl-CpG-binding domain 1; methyl-CpG binding domain protein 1 isoform PCM1; the regulator of fibroblast growth factor 2 (FGF-2) transcription

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029505.1 RefSeqGene

Range

5001..19893

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001204136.1 → NP_001191065.1 methyl-CpG-binding domain protein 1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks the penultimate exon compared to variant 1. This results in a frame-shift, and a longer isoform (6) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AJ564845, AK225889, AK291519, AK302004, CD723822

Consensus CDS

CCDS59320.1

UniProtKB/TrEMBL

A8K654

UniProtKB/TrEMBL

K7ESN0

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000468785, OTTHUMP00000262941, ENST00000590208, OTTHUMT00000448756

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 197

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:331 – 377
Blast Score: 167

zf-CXXC; CXXC zinc finger domain
NM_001204137.1 → NP_001191066.1 methyl-CpG-binding domain protein 1 isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an additional in-frame coding exon, and has a different 3' UTR compared to variant 1. This results in a longer isoform (7, also known as RFT-A) with an extra protein segment not found in isoform 1. This isoform has been shown to repress FGF-2 expression at the transcriptional level, and may be involved in FGF-2-dependent tumor progression (PMID:10187827).

Source sequence(s)

AK291519, AK295401, AK302004, BP384783

Consensus CDS

CCDS56073.1

UniProtKB/TrEMBL

A8K654

UniProtKB/TrEMBL

B4DI41

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000405268, OTTHUMP00000262869, ENST00000457839, OTTHUMT00000448759

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 198

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:356 – 402
Blast Score: 167

zf-CXXC; CXXC zinc finger domain
NM_001204138.1 → NP_001191067.1 methyl-CpG-binding domain protein 1 isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) is the same as variant 7, except uses an alternate acceptor splice site at one of the coding exons, resulting in an isoform (8, also known as RFT-Aprime) that is 1 aa shorter than isoform 7. Unlike isoform 7, this isoform fails to bind FGF-2 promoter and repress FGF-2 gene expression (PMID:10187827).

Source sequence(s)

AK291519, AK295401, AK302004, BP384783

UniProtKB/TrEMBL

A8K654

UniProtKB/TrEMBL

B4DI41

UniProtKB/Swiss-Prot

Q9UIS9

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 199

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:356 – 402
Blast Score: 167

zf-CXXC; CXXC zinc finger domain
NM_001204139.1 → NP_001191068.1 methyl-CpG-binding domain protein 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (14) contains an alternate 3' terminal non-coding exon, thus has a different 3' UTR compared to variant 1. Variants 1 and 14 encode the same isoform (1).

Source sequence(s)

AK291519, AK302004, BC047353

Consensus CDS

CCDS11943.1

UniProtKB/TrEMBL

A8K654

UniProtKB/Swiss-Prot

Q9UIS9

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 198

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:331 – 377
Blast Score: 164

zf-CXXC; CXXC zinc finger domain
NM_001204140.1 → NP_001191069.1 methyl-CpG-binding domain protein 1 isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (9) is the same as variant 7, except lacks an in-frame coding exon, resulting in an isoform (9, also known as RFT-B) that is missing an internal protein segment compared to isoform 7. Unlike isoform 7, this isoform fails to bind FGF-2 promoter and repress FGF-2 gene expression (PMID:10187827).

Source sequence(s)

AK291519, AK295401, AK302004, BP384783

UniProtKB/TrEMBL

A8K654

UniProtKB/TrEMBL

B4DI41

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000381508, OTTHUMP00000262943, ENST00000398495, OTTHUMT00000448882

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 197

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:169 – 215
Blast Score: 143

zf-CXXC; CXXC zinc finger domain
NM_001204141.1 → NP_001191070.1 methyl-CpG-binding domain protein 1 isoform 10

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks 2 non-consecutive coding exons, and contains an alternate 3' terminal exon compared to variant 1. This results in a frame-shift in the 3' coding region, and a shorter isoform (10) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK225889, AK291519, AK302004, BC047353

Consensus CDS

CCDS59318.1

UniProtKB/TrEMBL

A8K654

UniProtKB/TrEMBL

K7ELI2

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000466092, OTTHUMP00000262939, ENST00000585672, OTTHUMT00000448751

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 197

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:281 – 327
Blast Score: 169

zf-CXXC; CXXC zinc finger domain
NM_001204142.1 → NP_001191071.1 methyl-CpG-binding domain protein 1 isoform 11

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks 3 non-consecutive coding exons, and uses an alternate acceptor splice site at the 3' terminal exon compared to variant 1. This results in a frame-shift in the 3' coding region, and a shorter isoform (11) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AF078831, AJ564845, AK291519, CD723822

Consensus CDS

CCDS56072.1

UniProtKB/TrEMBL

A8K654

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000339546, OTTHUMP00000262865, ENST00000339998, OTTHUMT00000448755

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 201

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:331 – 377
Blast Score: 162

zf-CXXC; CXXC zinc finger domain
NM_001204143.1 → NP_001191072.1 methyl-CpG-binding domain protein 1 isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks 3 non-consecutive coding exons, and uses an alternate donor splice site at the 5' non-coding exon and an alternate acceptor splice site at the 3' terminal exon compared to variant 1. This results in a frame-shift in the 3' coding region, and a shorter isoform (12) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AF078831, AJ564845, AK300759, CD723822

Consensus CDS

CCDS59319.1

UniProtKB/TrEMBL

B4DUR3

UniProtKB/TrEMBL

K7EQZ4

UniProtKB/Swiss-Prot

Q9UIS9

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 198

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:169 – 215
Blast Score: 138

zf-CXXC; CXXC zinc finger domain
NM_001204151.1 → NP_001191080.1 methyl-CpG-binding domain protein 1 isoform 13

Status: REVIEWED

Description

Transcript Variant: This variant (13) lacks 2 non-consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (13) missing two internal protein segments compared to isoform 1.

Source sequence(s)

AF078831, AK302004

Consensus CDS

CCDS56071.1

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000465923, OTTHUMP00000262870, ENST00000591535, OTTHUMT00000448760

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 198

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:308 – 354
Blast Score: 158

zf-CXXC; CXXC zinc finger domain
NM_002384.2 → NP_002375.1 methyl-CpG-binding domain protein 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks 2 in-frame non-consecutive coding exons compared to variant 1, resulting in a shorter isoform (4) missing two internal protein segments compared to isoform 1.

Source sequence(s)

AJ564845, AK225948, BC033242, DB458244, DC403953

Consensus CDS

CCDS11941.1

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000342531, ENST00000349085

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 197

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:169 – 215
Blast Score: 137

zf-CXXC; CXXC zinc finger domain
NM_015844.2 → NP_056669.2 methyl-CpG-binding domain protein 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AJ564845, AK225948, BC033242, DB458244, DC403953

Consensus CDS

CCDS11942.1

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000285102, ENST00000347968

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 197

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:169 – 215
Blast Score: 140

zf-CXXC; CXXC zinc finger domain
NM_015845.3 → NP_056670.2 methyl-CpG-binding domain protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) is missing 3 non-consecutive coding exons compared to variant 1, the last of which causes a frame-shift. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AJ564845, AK225889, AK225948, BC033242, DB458244, DC403953

Consensus CDS

CCDS32832.1

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000269471, ENST00000269471

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 197

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:308 – 354
Blast Score: 162

zf-CXXC; CXXC zinc finger domain
NM_015846.3 → NP_056671.2 methyl-CpG-binding domain protein 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1. Variants 1 and 14 encode the same isoform.

Source sequence(s)

AJ564845, AK225889, AK225948, BC033242, DB458244, DC403953

Consensus CDS

CCDS11943.1

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000269468, ENST00000269468

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 198

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:331 – 377
Blast Score: 164

zf-CXXC; CXXC zinc finger domain
NM_015847.3 → NP_056723.2 methyl-CpG-binding domain protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (5) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AJ564845, AK225889, AK225948, BC033242, DB458244, DC403953

Consensus CDS

CCDS11944.1

UniProtKB/Swiss-Prot

Q9UIS9

Related

ENSP00000269469, OTTHUMP00000163505, ENST00000353909, OTTHUMT00000255924

Conserved Domains (2) summary

cd01396
Location:5 – 66
Blast Score: 194

MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

pfam02008
Location:282 – 328
Blast Score: 171

zf-CXXC; CXXC zinc finger domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p10 Primary Assembly

Range

47793252..47808144, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

44647697..44662584, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018929.1 Alternate CHM1_1.0

Range

47793368..47808260, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01018670.1 (38466..53353)	None
genomic	AC090246.9 (10719..23349)	None
genomic	AF120979.1	None
genomic	AF120980.1	AAD50371.1
genomic	AF120981.1	AAD50371.1
genomic	AF120982.1	None
genomic	AMYH01008995.1 (29545..44437)	None
genomic	CH471096.1	EAW62962.1
		EAW62963.1
		EAW62964.1
		EAW62965.1
		EAW62966.1
		EAW62967.1
mRNA	AB209765.1	BAD93002.1
mRNA	AF072241.1	AAC68870.1
mRNA	AF078830.1	AAD51442.1
mRNA	AF078831.1	AAD51443.1
mRNA	AF078832.1	AAD51444.1
mRNA	AF078833.1	AAD51445.1
mRNA	AJ564845.1	CAD92308.1
mRNA	AK225889.1	None
mRNA	AK225948.1	None
mRNA	AK291519.1	BAF84208.1
mRNA	AK295401.1	BAG58353.1
mRNA	AK300759.1	BAG62425.1
mRNA	AK302004.1	BAG63407.1
mRNA	BC033242.1	AAH33242.1
mRNA	BC047353.1	None
mRNA	BP384783.1	None
mRNA	CD723822.1	None
mRNA	DB458244.1	None
mRNA	DC403953.1	None
mRNA	EF488685.1	ABP02056.1
mRNA	Y10746.1	CAA71735.1