Reactome | UniProt:Q9Y2U8 LEMD3

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UniProt:Q9Y2U8 LEMD3 Show undefined attributes

chain	initiator methionine:1 chain:2-911
checksum	21D1E6BB0D499131
comment	FUNCTION Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.SUBUNIT Interacts with SMAD1, SMAD2, SMAD3 and SMAD5. Binds to both phosphorylated and unphosphorylated R-SMADS.SUBCELLULAR LOCATION Heart, brain, placenta, lung, liver and skeletal muscle.DISEASE The disease is caused by variants affecting the gene represented in this entry.
crossReference	[DatabaseIdentifier:12443416] RefSeq:NP_055134.2 [DatabaseIdentifier:12443415] RefSeq:NP_001161086.1 [DatabaseIdentifier:12281606] Pharos - Targets:Q9Y2U8 [DatabaseIdentifier:12259561] PRO:Q9Y2U8 [DatabaseIdentifier:12153428] PDB:5ZOK [DatabaseIdentifier:12153430] PDB:2CH0 [DatabaseIdentifier:12153429] PDB:5ZOJ [DatabaseIdentifier:12136136] Orphanet:LEMD3 [DatabaseIdentifier:12121277] OpenTargets:ENSG00000174106 [DatabaseIdentifier:11836795] HPA:ENSG00000174106-LEMD3 [DatabaseIdentifier:11831172] HMDB Protein:HMDBP14557 [DatabaseIdentifier:11799234] GlyGen:Q9Y2U8 [DatabaseIdentifier:11783691] GeneCards:LEMD3 [DatabaseIdentifier:11743161] ENSEMBL:ENST00000308330 [DatabaseIdentifier:11620462] ENSEMBL:ENSP00000308369 [DatabaseIdentifier:11506981] ENSEMBL:ENSG00000174106
databaseName	UniProt
dbId	58981
description	recommendedName: Inner nuclear membrane protein Man1 alternativeName: LEM domain-containing protein 3
displayName	UniProt:Q9Y2U8 LEMD3
geneName	LEMD3 MAN1
identifier	Q9Y2U8
isSequenceChanged	false
keyword	3D-structure Acetylation Disease variant DNA-binding Membrane Nucleus Phosphoprotein Proteomics identification Reference proteome Transmembrane Transmembrane helix
modified	[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType	Protein
name	LEMD3
otherIdentifier	11721227_at 11721228_s_at 11721229_at 16753588 218604_PM_at 218604_at 23592 3420089 3420090 3420091 3420092 3420093 3420094 3420095 3420096 3420097 3420098 3420099 3420100 3420101 3420102 3420103 3420116 3420117 3420118 3420120 3420121 3420128 3420129 3420130 3420131 3420132 3420134 3420136 3420137 3420138 3420139 3420140 3420141 3420142 3420146 3420148 3420150 54159_at 72884_at 7956842 A_14_P121448 A_23_P151018 A_33_P3382709 GE58578 GO:0003676 GO:0003677 GO:0005515 GO:0005634 GO:0005635 GO:0005637 GO:0016020 GO:0030512 GO:0030514 GO:0031965 GO:0032926 GO:1990446 HMNXSV003045627 ILMN_1727361 ILMN_2183938 PH_hs_0029077 TC12000581.hg g7706606_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-9715091] LEMD3 [endosome membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9714458] LEMD3 [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9715186] LEMD3 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2993886] LEMD3 [nuclear envelope] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12706952] UCSC:Q9Y2U8 LEMD3 [ReferenceDNASequence:12107002] OMIM:607844 LEMD3 [ReferenceDNASequence:12086087] NCBI Gene:23592 LEMD3 [ReferenceDNASequence:12001994] Monarch:23592 LEMD3 [ReferenceDNASequence:11910177] KEGG:hsa:23592 LEMD3 [ReferenceDNASequence:11815309] HGNC:28887 LEMD3 [ReferenceDNASequence:11431524] dbSNP Gene:23592 LEMD3 [ReferenceDNASequence:11407405] CTD Gene:23592 LEMD3 [ReferenceDNASequence:11395311] COSMIC - genes:LEMD3 LEMD3 [ReferenceDNASequence:11372205] BioGPS Gene:23592 LEMD3 [ReferenceDNASequence:ensembl:ENSG00000174106] ENSEMBL:ENSG00000174106 LEMD3
referenceTranscript	[ReferenceRNASequence:12624975] RefSeq:NM_001167614.1 LEMD3 [ReferenceRNASequence:12624976] RefSeq:NM_014319.4 LEMD3
schemaClass	ReferenceGeneProduct
secondaryIdentifier	MAN1_HUMAN Q9NT47 Q9NYA5
sequenceLength	911
species	[Species:48887] Homo sapiens
stId	uniprot:Q9Y2U8
url	http://purl.uniprot.org/uniprot/Q9Y2U8

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