ATL3 - atlastin GTPase 3 Gene

Homo sapiens

Also known as HSN1F

Gene ID: 25923 | Gene type: protein coding

About ATL3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:63,624,087-63,671,974 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 13.6), thyroid (RPKM 12.0) and 25 other tissues.

Summary

This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

ATL3 Products(2)

mRNA	Protein	Name
NM_001290048.2	NP_001276977.1	atlastin-3 isoform 2
NM_015459.5	NP_056274.3	atlastin-3 isoform 1

ATL3 Protein Structure

GBP

GBP_C

0
100
200
300
400
500
541 a.a.

Protein Preferred Names

Protein Names

atlastin-3

Recombinant ATL3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75497	ATL3 Protein, Human (His)	Q6DD88 (M1-A445)	≥95%

Related Diseases

Diseases

Alias

Neuropathy, Hereditary Sensory, Type If

HSN1F	Hsn If
Hereditary Sensory Neuropathy Type 1f	Hereditary Sensory Neuropathy Type If
Neuropathy, Hereditary Sensory, Type 1f	Neuropathy, Hereditary Sensory, 1f
Neuropathy, Sensory, Hereditary, Type If

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8	Hsan Viii
Hereditary Sensory And Autonomic Neuropathy Type 8	Hereditary Sensory And Autonomic Neuropathy Type Viii
Neuropathy, Hereditary Sensory And Autonomic, 8	Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Spastic Paraplegia 3a

Spg3a	Atl1-Hsp
Spastic Paraplegia Type 3a	Spastic Paraplegia 3
Spastic Paraplegia 3, Autosomal Dominant

Chromosome Xp11.22 Duplication Syndrome

Mrx17	Mental Retardation, X-Linked 31
Mrx31	Xp11.22 Microduplication Syndrome
X-Linked Mental Retardation 31	Mental Retardation, X-Linked 17

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7	HSAN7
Hereditary Sensory And Autonomic Neuropathy Type Vii	Hsan Vii
Cip With Hyperhidrosis And Gastrointestinal Dysfunction	Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction
Hsan With Hyperhidrosis And Gastrointestinal Dysfunction	Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction
Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis	Neuropathy, Hereditary Sensory And Autonomic, 7
Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis	Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6	HSAN6
Hsan Vi	Hereditary Sensory And Autonomic Neuropathy Type Vi
Familial Dysautonomia With Contractures	Neuropathy, Hereditary Sensory And Autonomic, 6
Hereditary Sensory Neuropathy Type Vi	Hsn Vi
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5	Hereditary Sensory And Autonomic Neuropathy Type V
Hsan V	Hereditary Sensory And Autonomic Neuropathy Type 5
Congenital Insensitivity To Pain	Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
Hsan Type V	Insensitivity To Pain, Congenital
Hereditary Sensory And Autonomic Neuropathy, Type 5	Congenital Insensitivity To Pain And Thermal Analgesia
Neuropathy, Hereditary Sensory And Autonomic, 5	Hereditary Sensory Neuropathy Type V
Hsn V	Pain Insensitivity, Congenital
Neuropathy, Sensory And Autonomic, Hereditary, Type V	Hereditary Sensory Autonomic Neuropathy, Type 5
Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01159	ATL3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATL3	MGD	MGI:1924270
Canis familiaris	ATL3	VGNC	VGNC:38232
Macaca mulatta	ATL3	VGNC	VGNC:70125
Rattus norvegicus	ATL3	RGD	RGD:1309871
Bos taurus	ATL3	VGNC	VGNC:26267
Felis catus	ATL3	VGNC	VGNC:60010
Others	ATL3	NCBI