• Gene id: 23592

Gene Summary

• Gene Symbol: LEMD3   Gene   UCSC   Ensembl
• Aliases: MAN1
• Gene name: LEM domain containing 3
• Alternate names: inner nuclear membrane protein Man1, LEM domain-containing protein 3, LEMD3/MKX fusion, integral inner nuclear membrane protein,
• Gene location: 12q14.3 (65169582: 65248354)     Exons: 13     NC_000012.12
• Gene summary(Entrez): This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mut
• OMIM: 607844

Protein Summary

• Protein general information: Q9Y2U8  
  • Name: Inner nuclear membrane protein Man1 (LEM domain containing protein 3)
  • Length: 911  
  • Mass: 99997
  • Tissue specificity: Heart, brain, placenta, lung, liver and skeletal muscle.
• Sequence:

  MAAAAASAPQQLSDEELFSQLRRYGLSPGPVTESTRPVYLKKLKKLREEEQQQHRSGGRGNKTRNSNNNNTAAAT
  VAAAGPAAAAAAGMGVRPVSGDLSYLRTPGGLCRISASGPESLLGGPGGASAAPAAGSKVLLGFSSDESDVEASP
  RDQAGGGGRKDRASLQYRGLKAPPAPLAASEVTNSNSAERRKPHSWWGARRPAGPELQTPPGKDGAVEDEEGEGE
  DGEERDPETEEPLWASRTVNGSRLVPYSCRENYSDSEEEDDDDVASSRQVLKDDSLSRHRPRRTHSKPLPPLTAK
  SAGGRLETSVQGGGGLAMNDRAAAAGSLDRSRNLEEAAAAEQGGGCDQVDSSPVPRYRVNAKKLTPLLPPPLTDM
  DSTLDSSTGSLLKTNNHIGGGAFSVDSPRIYSNSLPPSAAVAASSSLRINHANHTGSNHTYLKNTYNKPKLSEPE
  EELLQQFKREEVSPTGSFSAHYLSMFLLTAACLFFLILGLTYLGMRGTGVSEDGELSIENPFGETFGKIQESEKT
  LMMNTLYKLHDRLAQLAGDHECGSSSQRTLSVQEAAAYLKDLGPEYEGIFNTSLQWILENGKDVGIRCVGFGPEE
  ELTNITDVQFLQSTRPLMSFWCRFRRAFVTVTHRLLLLCLGVVMVCVVLRYMKYRWTKEEEETRQMYDMVVKIID
  VLRSHNEACQENKDLQPYMPIPHVRDSLIQPHDRKKMKKVWDRAVDFLAANESRVRTETRRIGGADFLVWRWIQP
  SASCDKILVIPSKVWQGQAFHLDRRNSPPNSLTPCLKIRNMFDPVMEIGDQWHLAIQEAILEKCSDNDGIVHIAV
  DKNSREGCVYVKCLSPEYAGKAFKALHGSWFDGKLVTVKYLRLDRYHHRFPQALTSNTPLKPSNKHMNSMSHLRL
  RTGLTNSQGSS

• Structural information:
  • Protein Domains: (6..5-)
    (/note="LEM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00313"-)
  • Interpro: IPR011015  IPR003887  IPR034997  IPR034394  IPR041885   IPR018996  IPR012677  IPR035979  
  • Prosite: PS50954
  • CDD: cd12286
  • PDB: 2CH0 5ZOJ 5ZOK
  • PDBsum: 2CH0 5ZOJ 5ZOK
  • STRING: ENSP00000308369
• Other Databases: GeneCards:  LEMD3  Malacards:  LEMD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030514	negative regulation of BMP signaling pathway	IBA	biological process
GO:0032926	negative regulation of activin receptor signaling pathway	IDA	biological process
GO:0005637	nuclear inner membrane	IDA	cellular component
GO:0030514	negative regulation of BMP signaling pathway	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006997	nucleus organization	IEA	biological process
GO:1902531	regulation of intracellular signal transduction	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005639	integral component of nuclear inner membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component

Diseases

Associated diseases	References
Buschke-Ollendorff syndrome	KEGG:H00452
Buschke-Ollendorff syndrome	KEGG:H00452
Buschke-Ollendorff syndrome	PMID:21985280
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray