RBP Type	Non-canonical_RBPs
Diseases	Disease
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	E3 ligase
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000148356	Gene ID	90678	Accession	25135
Symbol	LRSAM1	Alias	TAL;CMT2P;RIFLE	Full Name	leucine rich repeat and sterile alpha motif containing 1
Status	Confidence	Length	52011 bases	Strand	Plus strand
Position	9 : 127451489 - 127503499	RNA binding domain	N.A.
Summary	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 gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]

Protein	Domain	Pfam ID	E-value	Domain number

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal
27615052	A novel missense mutation of CMT2P alters transcription machinery.	Bo Hu	2016-12-01	Annals of neurology
35842440	C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.	Daniel Moiseev	2022-07-16	Scientific reports

Name	Transcript ID	bp	Protein	Translation ID
LRSAM1-220	ENST00000675224	3129	653aa	ENSP00000501869
LRSAM1-204	ENST00000373324	3044	696aa	ENSP00000362421
LRSAM1-213	ENST00000674771	3031	420aa	ENSP00000502627
LRSAM1-228	ENST00000675641	3130	420aa	ENSP00000501845
LRSAM1-209	ENST00000498513	3474	236aa	ENSP00000501637
LRSAM1-227	ENST00000675572	3026	690aa	ENSP00000501598
LRSAM1-241	ENST00000676349	3314	173aa	ENSP00000502155
LRSAM1-240	ENST00000676336	2941	407aa	ENSP00000502686
LRSAM1-238	ENST00000676170	3185	750aa	ENSP00000502177
LRSAM1-214	ENST00000674784	2931	254aa	ENSP00000501837
LRSAM1-231	ENST00000675789	2926	663aa	ENSP00000501954
LRSAM1-201	ENST00000300417	3120	723aa	ENSP00000300417
LRSAM1-224	ENST00000675448	3096	723aa	ENSP00000502167
LRSAM1-202	ENST00000323301	3376	723aa	ENSP00000322937
LRSAM1-205	ENST00000472068	2531	85aa	ENSP00000501555
LRSAM1-217	ENST00000675141	3261	690aa	ENSP00000502420
LRSAM1-211	ENST00000674516	3827	638aa	ENSP00000502441
LRSAM1-232	ENST00000675883	3180	696aa	ENSP00000501592
LRSAM1-234	ENST00000676014	2934	704aa	ENSP00000502058
LRSAM1-208	ENST00000486587	985	No protein	-
LRSAM1-207	ENST00000485704	1227	No protein	-
LRSAM1-233	ENST00000675945	3075	420aa	ENSP00000501835
LRSAM1-229	ENST00000675657	3102	432aa	ENSP00000502002
LRSAM1-239	ENST00000676318	5283	420aa	ENSP00000502300
LRSAM1-221	ENST00000675253	3151	428aa	ENSP00000502557
LRSAM1-215	ENST00000674970	3465	165aa	ENSP00000502493
LRSAM1-219	ENST00000675213	2913	708aa	ENSP00000502218
LRSAM1-203	ENST00000373322	2849	723aa	ENSP00000362419
LRSAM1-226	ENST00000675558	767	No protein	-
LRSAM1-223	ENST00000675445	3026	149aa	ENSP00000502253
LRSAM1-212	ENST00000674621	1932	No protein	-
LRSAM1-218	ENST00000675198	2636	No protein	-
LRSAM1-242	ENST00000676399	2663	No protein	-
LRSAM1-230	ENST00000675662	2551	No protein	-
LRSAM1-237	ENST00000676137	2786	No protein	-
LRSAM1-216	ENST00000675012	2703	No protein	-
LRSAM1-210	ENST00000674511	2358	No protein	-
LRSAM1-243	ENST00000676409	2818	No protein	-
LRSAM1-225	ENST00000675521	2666	No protein	-
LRSAM1-236	ENST00000676106	2796	No protein	-
LRSAM1-235	ENST00000676035	2420	No protein	-
LRSAM1-222	ENST00000675364	1364	No protein	-
LRSAM1-206	ENST00000483302	3421	No protein	-

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0000209	involved_in protein polyubiquitination	1	IDA	Homo_sapiens(9606)	Process
GO:0004842	enables ubiquitin-protein transferase activity	1	IDA	Homo_sapiens(9606)	Function
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005737	located_in cytoplasm	1	IDA	Homo_sapiens(9606)	Component
GO:0005829	located_in cytosol	1	IDA	Homo_sapiens(9606)	Component
GO:0006914	involved_in autophagy	1	IEA	Homo_sapiens(9606)	Process
GO:0016020	located_in membrane	1	IDA	Homo_sapiens(9606)	Component
GO:0030163	involved_in protein catabolic process	1	IMP	Homo_sapiens(9606)	Process
GO:0045806	involved_in negative regulation of endocytosis	1	IMP	Homo_sapiens(9606)	Process
GO:0046755	involved_in viral budding	1	IMP	Homo_sapiens(9606)	Process
GO:0046872	enables metal ion binding	1	IEA	Homo_sapiens(9606)	Function
GO:0051865	involved_in protein autoubiquitination	1	IDA	Homo_sapiens(9606)	Process
GO:0061630	enables ubiquitin protein ligase activity	1	IDA	Homo_sapiens(9606)	Function
GO:0070086	involved_in ubiquitin-dependent endocytosis	1	IDA	Homo_sapiens(9606)	Process
GO:1904417	involved_in positive regulation of xenophagy	1	IMP	Homo_sapiens(9606)	Process
GO:2000786	involved_in positive regulation of autophagosome assembly	1	IMP	Homo_sapiens(9606)	Process