• Gene id: 90678

Gene Summary

• Gene Symbol: LRSAM1   Gene   UCSC   Ensembl
• Aliases: CMT2P, RIFLE, TAL
• Gene name: leucine rich repeat and sterile alpha motif containing 1
• Alternate names: E3 ubiquitin-protein ligase LRSAM1, RING finger leucine repeat rich, RING-type E3 ubiquitin transferase LRSAM1, Tsg101-associated ligase,
• Gene location: 9q33.3-q34.11 (127451485: 127503500)     Exons: 27     NC_000009.12
• Gene summary(Entrez): This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gen

Protein Summary

• Protein general information: Q6UWE0  
  • Name: E3 ubiquitin protein ligase LRSAM1 (EC 2.3.2.27) (Leucine rich repeat and sterile alpha motif containing protein 1) (RING type E3 ubiquitin transferase LRSAM1) (Tsg101 associated ligase) (hTAL)
  • Length: 723  
  • Mass: 83594
  • Tissue specificity: Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue. {ECO
• Sequence:

  MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEIPFGAFATCKVLQKKVLIVHTNHLTSLLPKSC
  SLLSLATIKVLDLHDNQLTALPDDLGQLTALQVLNVERNQLMQLPRSIGNLTQLQTLNVKDNKLKELPDTVGELR
  SLRTLNISGNEIQRLPQMLAHVRTLEMLSLDASAMVYPPREVCGAGTAAILQFLCKESGLEYYPPSQYLLPILEQ
  DGIENSRDSPDGPTDRFSREELEWQNRFSDYEKRKEQKMLEKLEFERRLELGQREHTQLLQQSSSQKDEILQTVK
  EEQSRLEQGLSEHQRHLNAERQRLQEQLKQTEQNISSRIQKLLQDNQRQKKSSEILKSLENERIRMEQLMSITQE
  ETESLRRRDVASAMQQMLTESCKNRLIQMAYESQRQNLVQQACSSMAEMDERFQQILSWQQMDQNKAISQILQES
  AMQKAAFEALQVKKDLMHRQIRSQIKLIETELLQLTQLELKRKSLDTESLQEMISEQRWALSSLLQQLLKEKQQR
  EEELREILTELEAKSETRQENYWLIQYQRLLNQKPLSLKLQEEGMERQLVALLEELSAEHYLPIFAHHRLSLDLL
  SQMSPGDLAKVGVSEAGLQHEILRRVQELLDAARIQPELKPPMGEVVTPTAPQEPPESVRPSAPPAELEVQASEC
  VVCLEREAQMIFLNCGHVCCCQQCCQPLRTCPLCRQDIAQRLRIYHSS

• Structural information:
  • Protein Domains: (569..63-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR001611  IPR003591  IPR032675  IPR001660  IPR013761   IPR001841  IPR013083  
  • Prosite: PS51450 PS50105 PS50089
  • STRING: ENSP00000322937
• Other Databases: GeneCards:  LRSAM1  Malacards:  LRSAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1904417	positive regulation of xenophagy	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:2000786	positive regulation of autophagosome assembly	IMP	biological process
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0070086	ubiquitin-dependent endocytosis	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045806	negative regulation of endocytosis	IMP	biological process
GO:0030163	protein catabolic process	IMP	biological process
GO:0046755	viral budding	IMP	biological process

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq