Gene Gene information from NCBI Gene database.
Entrez ID 25923
Gene name Atlastin GTPase 3
Gene symbol ATL3
Synonyms (NCBI Gene)
AT3ATL-3HSN1F
Chromosome 11
Chromosome location 11q13.1
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 wit
miRNA miRNA information provided by mirtarbase database.
222
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 23969831, 32075961
GO:0005525 Function GTP binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609369 24526 ENSG00000184743
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
412
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neuropathy, hereditary sensory, type 1F Pathogenic rs587777108, rs1939486740 RCV000083312
RCV001200936
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs499942 RCV005927961
ATL3-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign rs373299005, rs759079163, rs112847445, rs200918566, rs3781606, rs779242170 RCV003904264
RCV003941448
RCV003925699
RCV003952858
RCV003905447
RCV003955514
Charcot-Marie-Tooth disease axonal type 2N Uncertain significance rs376091022 RCV003311896
Long QT syndrome Likely benign rs776571949 RCV000190126
Associations from Text MiningDisease associations identified through Pubtator
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