2. Gene
  3. ATL3 - atlastin GTPase 3 Gene

ATL3 - atlastin GTPase 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IDA
IDA: Inferred from direct assay
18270207 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
23969831 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Golgi organization IMP
IMP: Inferred from mutant phenotype
18270207 GOA
involved in endoplasmic reticulum organization IMP
IMP: Inferred from mutant phenotype
18270207 GOA
NOT involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
18270207 GOA
involved in positive regulation of endoplasmic reticulum tubular network organization IMP
IMP: Inferred from mutant phenotype
27619977 GOA
involved in protein homooligomerization IDA
IDA: Inferred from direct assay
18270207 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
18270207 GOA
located in endoplasmic reticulum tubular network IDA
IDA: Inferred from direct assay
23969831 GOA
located in endoplasmic reticulum tubular network membrane IDA
IDA: Inferred from direct assay
25548161 GOA
located in membrane IDA
IDA: Inferred from direct assay
18270207 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

ATL3 Protein Structure

GBP

GBP: Guanylate-binding protein, N-terminal domain (37 - 305)

GBP_C

GBP_C: Guanylate-binding protein, C-terminal domain (313 - 434)

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  • 500
  • 541 a.a.
Protein Preferred Names Protein Names

atlastin-3

ATL3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ATL3 Q6DD88 ZFYVE27 Homo sapiens Q5T4F4
Confocal
23969831
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01159 ATL3 Human Pre-designed siRNA Set A Pre-designed Sets / 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