Reactome | UniProt:Q8WWY6 MBD3L1

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UniProt:Q8WWY6 MBD3L1 Show undefined attributes

chain	chain:1-194
checksum	F9EC132573A45DC9
comment	FUNCTION Transcriptional repressor.INTERACTION Nuclear, in large foci.TISSUE SPECIFICITY Highly expressed in testis. Detected at low levels in pancreas. Not detected in the other tissues tested.DOMAIN The N-terminal half of the protein mediates transcription repression.MISCELLANEOUS Does not bind methylated DNA.MISCELLANEOUS The MBD3L proteins are encoded by strongly repeated regions of the 19p13 chromosome. The exact number of functional copies is unclear, and some of them may represent pseudogenes.SIMILARITY Belongs to the MBD3L family.
created	[InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10
crossReference	[DatabaseIdentifier:11442290] ENSEMBL:ENSG00000170948 [DatabaseIdentifier:12304306] RefSeq:NP_001380463.1 [DatabaseIdentifier:12304307] RefSeq:NP_001380462.1 [DatabaseIdentifier:12304305] RefSeq:NP_001380461.1 [DatabaseIdentifier:12304308] RefSeq:NP_660209.2 [DatabaseIdentifier:12279422] Pharos - Targets:Q8WWY6 [DatabaseIdentifier:12235891] PRO:Q8WWY6 [DatabaseIdentifier:12119081] OpenTargets:ENSG00000170948 [DatabaseIdentifier:11834634] HPA:ENSG00000170948-MBD3L1 [DatabaseIdentifier:11781506] GeneCards:MBD3L1 [DatabaseIdentifier:11650265] ENSEMBL:ENST00000708558 [DatabaseIdentifier:11650264] ENSEMBL:ENST00000708557 [DatabaseIdentifier:11650266] ENSEMBL:ENST00000595891 [DatabaseIdentifier:11650263] ENSEMBL:ENST00000305625 [DatabaseIdentifier:11527564] ENSEMBL:ENSP00000471575 [DatabaseIdentifier:11527565] ENSEMBL:ENSP00000517279 [DatabaseIdentifier:11527567] ENSEMBL:ENSP00000304198 [DatabaseIdentifier:11527566] ENSEMBL:ENSP00000517280 [DatabaseIdentifier:11442291] ENSEMBL:ENSG00000291743
databaseName	UniProt
dbId	150094
description	recommendedName: Methyl-CpG-binding domain protein 3-like 1 shortName: MBD3-like protein 1
displayName	UniProt:Q8WWY6 MBD3L1
geneName	MBD3L1 MBD3L
identifier	Q8WWY6
isSequenceChanged	false
keyword	Nucleus Proteomics identification Reference proteome Repressor Transcription Transcription regulation
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	MBD3L1
otherIdentifier	11732835_at 1552458_PM_at 1552458_at 1552459_PM_a_at 1552459_a_at 16857942 3819846 3819847 3819851 3819853 3819854 3819855 3819856 3819857 3819858 3819859 8025452 85509 A_14_P129222 A_14_P200518 A_23_P415395 GE557066 GO:0000122 GO:0005515 GO:0005634 GO:0006325 GO:0006346 GO:0006355 GO:0008327 HMNXSV003015777 Hs2.133912.1.S1_3p_s_at ILMN_1679822 PH_hs_0008051 TC19000153.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9940391] MBD3L1 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000170948] ENSEMBL:ENSG00000170948 MBD3L1 [ReferenceDNASequence:12720293] UCSC:Q8WWY6 MBD3L1 [ReferenceDNASequence:12105015] OMIM:607963 MBD3L1 [ReferenceDNASequence:12021708] NCBI Gene:85509 MBD3L1 [ReferenceDNASequence:11937615] Monarch:85509 MBD3L1 [ReferenceDNASequence:11851659] KEGG:hsa:85509 MBD3L1 [ReferenceDNASequence:11813106] HGNC:15774 MBD3L1 [ReferenceDNASequence:11433720] dbSNP Gene:85509 MBD3L1 [ReferenceDNASequence:11404606] CTD Gene:85509 MBD3L1 [ReferenceDNASequence:11397093] COSMIC - genes:MBD3L1 MBD3L1 [ReferenceDNASequence:11307826] BioGPS Gene:85509 MBD3L1
referenceTranscript	[ReferenceRNASequence:12486430] RefSeq:NM_001393532.1 MBD3L1 [ReferenceRNASequence:12486433] RefSeq:NM_145208.3 MBD3L1 [ReferenceRNASequence:12486431] RefSeq:NM_001393534.1 MBD3L1 [ReferenceRNASequence:12486432] RefSeq:NM_001393533.1 MBD3L1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	MB3L1_HUMAN B5BUM6 Q2M291
sequenceLength	194
species	[Species:48887] Homo sapiens
stId	uniprot:Q8WWY6
url	http://purl.uniprot.org/uniprot/Q8WWY6

Referrals

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[EntityWithAccessionedSequence:R-HSA-9940391] MBD3L1 [nucleoplasm]

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