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

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

LRSAM1 Protein Structure

LRR_4

LRR_4: Leucine Rich repeats (2 copies) (83 - 119)

LRR_4

LRR_4: Leucine Rich repeats (2 copies) (127 - 167)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (575 - 629)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (673 - 714)

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  • 723 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase LRSAM1

RING finger leucine repeat rich

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

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