Human Gene ATL3 (ENST00000538786.1) Description and Page Index
  Description: Homo sapiens atlastin GTPase 3 (ATL3), transcript variant 2, mRNA. (from RefSeq NM_001290048)
RefSeq Summary (NM_001290048): 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].
Gencode Transcript: ENST00000538786.1
Gencode Gene: ENSG00000184743.13
Transcript (Including UTRs)
   Position: hg38 chr11:63,629,253-63,671,909 Size: 42,657 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr11:63,629,319-63,659,244 Size: 29,926 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:63,629,253-63,671,909)mRNA (may differ from genome)Protein (523 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: F5H6I7_HUMAN
DESCRIPTION: SubName: Full=Atlastin-3;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: ATL3
Diseases sorted by gene-association score: neuropathy, hereditary sensory, type if* (1300), neuropathy, hereditary sensory, type ie* (175), spastic paraplegia 3a (13), hereditary spastic paraplegia 3a (11), neuropathy (8), insensitivity to pain, congenital (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.37 RPKM in Artery - Tibial
Total median expression: 668.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.70282-0.364 Picture PostScript Text
3' UTR -8.2066-0.124 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003191 - Guanylate-bd_C
IPR015894 - Guanylate-bd_N

Pfam Domains:
PF02263 - Guanylate-binding protein, N-terminal domain
PF02841 - Guanylate-binding protein, C-terminal domain

ModBase Predicted Comparative 3D Structure on F5H6I7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005525 GTP binding

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC005096 - Homo sapiens cDNA clone IMAGE:4053143, **** WARNING: chimeric clone ****.
CR936784 - Homo sapiens mRNA; cDNA DKFZp781F1886 (from clone DKFZp781F1886).
LF385279 - JP 2014500723-A/192782: Polycomb-Associated Non-Coding RNAs.
MA620856 - JP 2018138019-A/192782: Polycomb-Associated Non-Coding RNAs.
AK097588 - Homo sapiens cDNA FLJ40269 fis, clone TESTI2026597.
AK023383 - Homo sapiens cDNA FLJ13321 fis, clone OVARC1001703, weakly similar to Mus musculus ARL-6 interacting protein-2 (Aip-2) mRNA.
AL117600 - Homo sapiens mRNA; cDNA DKFZp564J0863 (from clone DKFZp564J0863).
BC077727 - Homo sapiens atlastin GTPase 3, mRNA (cDNA clone MGC:78594 IMAGE:5952471), complete cds.
AK301910 - Homo sapiens cDNA FLJ58636 complete cds, moderately similar to Atlastin.
JD059532 - Sequence 40556 from Patent EP1572962.
JD528306 - Sequence 509330 from Patent EP1572962.
LF344706 - JP 2014500723-A/152209: Polycomb-Associated Non-Coding RNAs.
MA580283 - JP 2018138019-A/152209: Polycomb-Associated Non-Coding RNAs.
LF344704 - JP 2014500723-A/152207: Polycomb-Associated Non-Coding RNAs.
MA580281 - JP 2018138019-A/152207: Polycomb-Associated Non-Coding RNAs.
LF344703 - JP 2014500723-A/152206: Polycomb-Associated Non-Coding RNAs.
MA580280 - JP 2018138019-A/152206: Polycomb-Associated Non-Coding RNAs.
LF344702 - JP 2014500723-A/152205: Polycomb-Associated Non-Coding RNAs.
MA580279 - JP 2018138019-A/152205: Polycomb-Associated Non-Coding RNAs.
LF344701 - JP 2014500723-A/152204: Polycomb-Associated Non-Coding RNAs.
MA580278 - JP 2018138019-A/152204: Polycomb-Associated Non-Coding RNAs.
LF344700 - JP 2014500723-A/152203: Polycomb-Associated Non-Coding RNAs.
MA580277 - JP 2018138019-A/152203: Polycomb-Associated Non-Coding RNAs.
CU687312 - Synthetic construct Homo sapiens gateway clone IMAGE:100023101 5' read DKFZP564J0863 mRNA.
LF344695 - JP 2014500723-A/152198: Polycomb-Associated Non-Coding RNAs.
MA580272 - JP 2018138019-A/152198: Polycomb-Associated Non-Coding RNAs.
LF344694 - JP 2014500723-A/152197: Polycomb-Associated Non-Coding RNAs.
MA580271 - JP 2018138019-A/152197: Polycomb-Associated Non-Coding RNAs.
LF344693 - JP 2014500723-A/152196: Polycomb-Associated Non-Coding RNAs.
MA580270 - JP 2018138019-A/152196: Polycomb-Associated Non-Coding RNAs.
LF344691 - JP 2014500723-A/152194: Polycomb-Associated Non-Coding RNAs.
MA580268 - JP 2018138019-A/152194: Polycomb-Associated Non-Coding RNAs.
DL492133 - Novel nucleic acids.

-  Other Names for This Gene
  Alternate Gene Symbols: F5H6I7, F5H6I7_HUMAN, NM_001290048, uc010rms.1, uc010rms.2
UCSC ID: uc010rms.2
RefSeq Accession: NM_001290048
Protein: F5H6I7 CCDS: CCDS41663.1, CCDS73309.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.