Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25923
Gene name Gene Name - the full gene name approved by the HGNC.
Atlastin GTPase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATL3
Synonyms (NCBI Gene) Gene synonyms aliases
AT3, ATL-3, HSN1F
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HSN1F
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 wit
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023532 hsa-miR-1-3p Proteomics 18668040
MIRT050590 hsa-miR-20a-5p CLASH 23622248
MIRT044964 hsa-miR-186-5p CLASH 23622248
MIRT676058 hsa-miR-1237-3p HITS-CLIP 23824327
MIRT676057 hsa-miR-1248 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IBA 21873635
GO:0003924 Function GTPase activity NAS 18270207
GO:0005515 Function Protein binding IPI 23969831
GO:0005525 Function GTP binding IBA 21873635
GO:0005783 Component Endoplasmic reticulum IDA 18270207
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609369 24526 ENSG00000184743
Protein
UniProt ID Q6DD88
Protein name Atlastin-3 (AT3) (ATL-3) (EC 3.6.5.-)
Protein function Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect
PDB 5VGR , 6XJO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02263 GBP 36 310 Guanylate-binding protein, N-terminal domain Domain
PF02841 GBP_C 312 438 Guanylate-binding protein, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level). {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106}.
Sequence
Sequence length 541
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hereditary sensory and autonomic neuropathy Hereditary Sensory Autonomic Neuropathy, Type 1 rs137852739, rs137852737, rs28940291, rs28940294, rs267607089, rs267607091, rs119482081, rs119482083, rs119482082, rs267607087, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332
View all (41 more)
24459106
Neuropathy NEUROPATHY, HEREDITARY SENSORY, TYPE IF rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276 24459106
Sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy type 1 rs119482081, rs119482083, rs119482082, rs797045071, rs267607087, rs1554706429, rs1197928094
Unknown
Disease term Disease name Evidence References Source
Osteomyelitis Osteomyelitis ClinVar
Sensory And Autonomic Neuropathy hereditary sensory and autonomic neuropathy type 1 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Hereditary Sensory and Autonomic Neuropathies Associate 30339187, 34090020, 37769650
Neuralgia Associate 34090020
Pain Insensitivity Congenital Associate 34090020, 37769650
Sensation Disorders Associate 34090020