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

Homo sapiens

Also known as TAL; CMT2P; RIFLE

Gene ID: 90678 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07845	LRSAM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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