ENSG00000184743


Homo sapiens

Features
Gene ID: ENSG00000184743
  
Biological name :ATL3
  
Synonyms : ATL3 / atlastin GTPase 3 / Q6DD88
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.1
Gene start: 63624087
Gene end: 63671921
  
Corresponding Affymetrix probe sets: 223452_s_at (Human Genome U133 Plus 2.0 Array)   223453_s_at (Human Genome U133 Plus 2.0 Array)   224893_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000381844
Ensembl peptide - ENSP00000437593
Ensembl peptide - ENSP00000441842
NCBI entrez gene - 25923     See in Manteia.
OMIM - 609369
RefSeq - XM_006718493
RefSeq - NM_001290048
RefSeq - NM_015459
RefSeq Peptide - NP_001276977
RefSeq Peptide - NP_056274
swissprot - F5GWF8
swissprot - F5H6I7
swissprot - Q6DD88
Ensembl - ENSG00000184743
  
Related genetic diseases (OMIM): 615632 - Neuropathy, hereditary sensory, type IF, 615632
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atl3ENSDARG00000004270Danio rerio
 Atl3ENSMUSG00000024759Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ATL2 / Q8NHH9 / atlastin GTPase 2ENSG0000011978763
ATL1 / Q8WXF7 / atlastin GTPase 1ENSG0000019851362
Q9ULX5 / RNF112 / ring finger protein 112ENSG0000012848222


Protein motifs (from Interpro)
Interpro ID Name
 IPR003191  Guanylate-binding protein/Atlastin, C-terminal
 IPR015894  Guanylate-binding protein, N-terminal
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030386  GB1/RHD3-type guanine nucleotide-binding (G) domain
 IPR036543  Guanylate-binding protein, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007029 endoplasmic reticulum organization IMP
 biological_processGO:0007030 Golgi organization IMP
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:1903373 positive regulation of endoplasmic reticulum tubular network organization IMP
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0071782 endoplasmic reticulum tubular network IDA
 cellular_componentGO:0098826 endoplasmic reticulum tubular network membrane IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042802 identical protein binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0001822 Hallux valgus "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators]
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 HP:0002600 Hyporeflexia of lower limbs 
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 HP:0002754 Osteomyelitis 
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 HP:0003390 Sensory axonal neuropathy "An axonal neuropathy of peripheral sensory nerves." [HPO:curators]
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 HP:0009771 Osteolytic defects of the phalanges of the hand "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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