LRSAM1 - leucine rich repeat and sterile alpha motif containing 1 Gene

Also Known as TAL; CMT2P; RIFLE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 90678

About LRSAM1

Cytogenetic location: 9q33.3-q34.11 Genomic coordinates (GRCh38): 9:127,451,486-127,503,501 (from NCBI)

This gene has 43 transcripts (splice variants), 191 orthologues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 9.6), bone marrow (RPKM 7.7) and 24 other tissues.

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]

LRSAM1 Products (7)

mRNA	Protein	Name
NM_001005373.4	NP_001005373.1	E3 ubiquitin-protein ligase LRSAM1 isoform 1
NM_001005374.4	NP_001005374.1	E3 ubiquitin-protein ligase LRSAM1 isoform 1
NM_001190723.3	NP_001177652.1	E3 ubiquitin-protein ligase LRSAM1 isoform 2
NM_001384142.1	NP_001371071.1	E3 ubiquitin-protein ligase LRSAM1 isoform 1
NM_001384143.1	NP_001371072.1	E3 ubiquitin-protein ligase LRSAM1 isoform 3
NM_001384144.1	NP_001371073.1	E3 ubiquitin-protein ligase LRSAM1 isoform 4
NM_138361.5	NP_612370.3	E3 ubiquitin-protein ligase LRSAM1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15256501	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	23245322	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	15256501	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of endocytosis	IMP IMP: Inferred from mutant phenotype	15256501	GOA
involved in positive regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	25484098	GOA
involved in positive regulation of xenophagy	IMP IMP: Inferred from mutant phenotype	23245322	GOA
involved in protein autoubiquitination	IDA IDA: Inferred from direct assay	15256501	GOA
involved in protein catabolic process	IMP IMP: Inferred from mutant phenotype	18077552	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	18077552	GOA
involved in ubiquitin-dependent endocytosis	IDA IDA: Inferred from direct assay	15256501	GOA
involved in viral budding	IMP IMP: Inferred from mutant phenotype	15256501	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15256501	GOA
located in membrane	IDA IDA: Inferred from direct assay	15256501	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRSAM1 Protein Structure

LRR_4

SAM_2

zf-C3HC4_3

0
200
400
600
723 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase LRSAM1	RING finger leucine repeat rich

LRSAM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	LRSAM1	Q6UWE0	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	LRSAM1	Q6UWE0	UBE2I	Homo sapiens	Q7KZS0	Validated Y2H	32296183
Intra	LRSAM1	Q6UWE0	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	LRSAM1	Q6UWE0	CCDC6	Homo sapiens	Q16204	Y2H Array	32296183
Intra	LRSAM1	Q6UWE0	CCDC6	Homo sapiens	Q16204	Y2H Prey Pooling	32296183
Intra	LRSAM1	Q6UWE0	UBE2N	Homo sapiens	P61088	Y2H Array	19549727
Intra	LRSAM1	Q6UWE0	ZMAT4	Homo sapiens	Q9H898-2	Validated Y2H	32296183
Intra	LRSAM1	Q6UWE0	ZMAT4	Homo sapiens	Q9H898-2	Y2H Array	32296183
Intra	LRSAM1	Q6UWE0	ZMAT4	Homo sapiens	Q9H898-2	Y2H Prey Pooling	32296183
Intra	LRSAM1	Q6UWE0	XAF1	Homo sapiens	Q6GPH4	Y2H Array	32296183
Intra	LRSAM1	Q6UWE0	XAF1	Homo sapiens	Q6GPH4	Y2H Prey Pooling	32296183
Intra	LRSAM1	Q6UWE0	TSG101	Homo sapiens	Q99816	Y2H Array	19549727
Intra	LRSAM1	Q6UWE0	TSG101	Homo sapiens	Q99816	Validated Y2H	32296183
Intra	LRSAM1	Q6UWE0	TSG101	Homo sapiens	Q99816	Y2H Array	25416956
Intra	LRSAM1	Q6UWE0	DMAP1	Homo sapiens	Q9NPF5	Y2H Prey Pooling	32296183
Intra	LRSAM1	Q6UWE0	DMAP1	Homo sapiens	Q9NPF5	Validated Y2H	32296183
Intra	LRSAM1	Q6UWE0	DMAP1	Homo sapiens	Q9NPF5	Y2H Array	32296183
Cross	LRSAM1	Q6UWE0	Fus	Mus musculus	P56959	Anti Tag CoIP	27615052
Cross	LRSAM1	Q6UWE0	Fus	Mus musculus	P56959	Anti Bait CoIP	27615052
Intra	LRSAM1	Q6UWE0	TERF1	Homo sapiens	P54274	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	Cmt2g Cmt 2g Charcot-Marie-Tooth Disease, Axonal, Type 2g
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Charcot-Marie-Tooth Disease, Axonal, Type 2h	CMT2H Charcot-Marie-Tooth Disease Axonal Type 2h Ar-Cmt2c Autosomal Recessive Axonal Cmt4c2 Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features Charcot-Marie-Tooth Disease, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2t	CMT2T Charcot-Marie-Tooth Disease Axonal Type 2t Charcot-Marie-Tooth Neuropathy, Type 2t Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t Ar-Cmt2t Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy Type 2t Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Cmt2 Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Disease 2t Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Charcot-Marie-Tooth Disease Recessive Intermediate D CMTRID Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D Ri-Cmt Type D Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D
Charcot-Marie-Tooth Disease, Axonal, Type 2a1	CMT2A1 Charcot-Marie-Tooth Disease Type 2a1 Hereditary Motor And Sensory Neuropathy Iia1 Hmsn Iia1 Hmsn2a1 Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease Neuronal Type 2a1 Charcot-Marie-Tooth Neuropathy Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 Charcot-Marie-Tooth Neuropathy, Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Charcot-Marie-Tooth Disease 2a1 Charcot-Marie-Tooth Disease Axonal Type 2a1
Charcot-Marie-Tooth Disease Type 2a2a	Charcot-Marie-Tooth Disease, Type 2a2a Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 Charcot-Marie-Tooth Neuronal Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2a2 Cmt2a2a Hereditary Motor And Sensory Neuropathy Iia2 Hmsn Iia2 Hmsn2a2
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease, Axonal, Type 2b2	Charcot-Marie-Tooth Disease Type 2b2 CMT2B2 Arcmt2b Charcot-Marie-Tooth Disease, Type 2b2 Ar-Cmt2b2 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 Autosomal Recessive Axonal Cmt4c3 Charcot-Marie-Tooth Disease Neuronal Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 Charcot-Marie-Tooth Neuropathy, Type 2b2 Charcot-Marie-Tooth Disease 2b2 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 Charcot-Marie-Tooth Disease Axonal Type 2b2
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Salmonellosis	Salmonella Infections Salmonella Infection
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-W854844A	(E)-JP-2-196 TFA	Ligand	97.89%	Unkown
HY-RS07845	LRSAM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LRSAM1	VGNC	VGNC:74353
Mus musculus	LRSAM1	MGD	MGI:2684789
Rattus norvegicus	LRSAM1	RGD	RGD:1564403
Bos taurus	LRSAM1	VGNC	VGNC:31045
Felis catus	LRSAM1	VGNC	VGNC:63318
Canis familiaris	LRSAM1	VGNC	VGNC:42833
Others	LRSAM1	NCBI