Details for: ATL1

Gene ID: 51062

Symbol: ATL1

Ensembl ID: ENSG00000198513

Description: atlastin GTPase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 251.2453
    Cell Significance Index: -39.0800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 146.1107
    Cell Significance Index: -37.0600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 75.8913
    Cell Significance Index: -35.8300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 53.3812
    Cell Significance Index: -35.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 31.7286
    Cell Significance Index: -39.1200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.8077
    Cell Significance Index: -34.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.9112
    Cell Significance Index: -39.1100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.9154
    Cell Significance Index: 41.9400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.8415
    Cell Significance Index: 52.5500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.6486
    Cell Significance Index: 72.9200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.5752
    Cell Significance Index: 59.6500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.4915
    Cell Significance Index: 35.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3791
    Cell Significance Index: 494.6700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.3253
    Cell Significance Index: 81.4600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.1235
    Cell Significance Index: 18.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.0937
    Cell Significance Index: 756.4200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.0669
    Cell Significance Index: 71.7400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.0199
    Cell Significance Index: 70.5300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8126
    Cell Significance Index: 80.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7854
    Cell Significance Index: 44.0700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7644
    Cell Significance Index: 690.1600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6684
    Cell Significance Index: 8.2900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.5971
    Cell Significance Index: 6.2200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.5777
    Cell Significance Index: 9.9000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4119
    Cell Significance Index: 67.0000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3934
    Cell Significance Index: 42.7900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3264
    Cell Significance Index: 11.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2469
    Cell Significance Index: 11.5100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2258
    Cell Significance Index: 11.8600
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.1987
    Cell Significance Index: 2.6500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1870
    Cell Significance Index: 35.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1426
    Cell Significance Index: 63.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0937
    Cell Significance Index: 12.0100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0849
    Cell Significance Index: 1.8400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0724
    Cell Significance Index: 3.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0544
    Cell Significance Index: 10.9100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0431
    Cell Significance Index: 7.7700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0019
    Cell Significance Index: -3.5000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0043
    Cell Significance Index: -6.5500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0053
    Cell Significance Index: -9.8600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0103
    Cell Significance Index: -0.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0141
    Cell Significance Index: -19.1400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0175
    Cell Significance Index: -2.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0304
    Cell Significance Index: -19.3000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0342
    Cell Significance Index: -25.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0390
    Cell Significance Index: -21.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0398
    Cell Significance Index: -5.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0464
    Cell Significance Index: -34.3500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0469
    Cell Significance Index: -9.3000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0547
    Cell Significance Index: -41.3900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0561
    Cell Significance Index: -25.4600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0640
    Cell Significance Index: -36.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0682
    Cell Significance Index: -42.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0686
    Cell Significance Index: -9.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1042
    Cell Significance Index: -29.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1663
    Cell Significance Index: -21.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1693
    Cell Significance Index: -28.9100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1791
    Cell Significance Index: -13.3500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1842
    Cell Significance Index: -3.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1957
    Cell Significance Index: -19.9900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2005
    Cell Significance Index: -42.2300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2078
    Cell Significance Index: -9.4200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2194
    Cell Significance Index: -25.5700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2480
    Cell Significance Index: -16.0000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2548
    Cell Significance Index: -6.3700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2605
    Cell Significance Index: -30.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2627
    Cell Significance Index: -12.3500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2797
    Cell Significance Index: -8.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2895
    Cell Significance Index: -8.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2957
    Cell Significance Index: -33.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3344
    Cell Significance Index: -23.6500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3402
    Cell Significance Index: -20.8600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3585
    Cell Significance Index: -28.3900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3662
    Cell Significance Index: -3.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3699
    Cell Significance Index: -38.5200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3769
    Cell Significance Index: -12.0700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3876
    Cell Significance Index: -8.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3906
    Cell Significance Index: -8.2900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4189
    Cell Significance Index: -8.9600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.4240
    Cell Significance Index: -3.5000
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.4314
    Cell Significance Index: -2.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4391
    Cell Significance Index: -22.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4395
    Cell Significance Index: -8.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4483
    Cell Significance Index: -34.4000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4841
    Cell Significance Index: -15.8500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4864
    Cell Significance Index: -15.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4895
    Cell Significance Index: -17.0100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4904
    Cell Significance Index: -6.1200
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.5426
    Cell Significance Index: -3.5300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5796
    Cell Significance Index: -8.3000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.6176
    Cell Significance Index: -7.2100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6339
    Cell Significance Index: -13.5000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6597
    Cell Significance Index: -41.5800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.6697
    Cell Significance Index: -10.6300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6988
    Cell Significance Index: -14.0300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.7448
    Cell Significance Index: -9.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7967
    Cell Significance Index: -27.9100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8041
    Cell Significance Index: -23.0500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.8566
    Cell Significance Index: -8.1500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.8734
    Cell Significance Index: -18.8700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The ATL1 gene exhibits several key characteristics that distinguish it from other genes: 1. **GTPase activity**: The atlastin-1 protein possesses GTPase activity, which is essential for regulating protein homeostasis and ER organization. 2. **Axonogenesis**: ATL1 is involved in the development and maintenance of axons, which are critical for neuronal function and connectivity. 3. **Endoplasmic reticulum organization**: The gene is also involved in the organization and maintenance of the ER, which is a complex organelle involved in protein synthesis, folding, and transport. 4. **Protein binding**: ATL1 interacts with various proteins, including those involved in protein homeostasis, signaling, and transport. **Pathways and Functions** The ATL1 gene is involved in several cellular pathways, including: 1. **Axonogenesis**: The gene plays a crucial role in the development and maintenance of axons, which are essential for neuronal function and connectivity. 2. **Endoplasmic reticulum organization**: ATL1 is involved in the organization and maintenance of the ER, which is critical for protein synthesis, folding, and transport. 3. **Protein homeostasis**: The gene regulates protein homeostasis by interacting with other proteins involved in protein synthesis, folding, and transport. 4. **Neurodegeneration**: ATL1 has been implicated in neurodegenerative diseases, including Alzheimer's disease and amyotrophic lateral sclerosis (ALS). **Clinical Significance** The ATL1 gene has significant clinical implications, particularly in the context of neurodegenerative diseases. Mutations in the ATL1 gene have been associated with: 1. **Alzheimer's disease**: ATL1 mutations have been linked to an increased risk of Alzheimer's disease, a neurodegenerative disorder characterized by progressive cognitive decline. 2. **Amyotrophic lateral sclerosis (ALS)**: ATL1 mutations have also been implicated in ALS, a motor neuron disease characterized by progressive muscle weakness and paralysis. 3. **Neurodevelopmental disorders**: The gene may also play a role in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. In conclusion, the ATL1 gene is a critical component of cellular development and function, particularly in the context of axonogenesis, endoplasmic reticulum organization, and protein homeostasis. Its clinical significance is evident in the context of neurodegenerative diseases, and further research is needed to fully elucidate its role in human health and disease.

Genular Protein ID: 1371776413

Symbol: ATLA1_HUMAN

Name: Atlastin-1

UniProtKB Accession Codes:

Q8WXF7 A6NND5 A8K2C0 G5E9T1 O95890 Q69YH7 Q96FK0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 4 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11685207

Title: Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

PubMed ID: 11685207

DOI: 10.1038/ng758

PubMed ID: 12387898

Title: A novel GTP-binding protein hGBP3 interacts with NIK/HGK.

PubMed ID: 12387898

DOI: 10.1016/s0014-5793(02)03467-1

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14506257

Title: Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.

PubMed ID: 14506257

DOI: 10.1074/jbc.m306702200

PubMed ID: 16339213

Title: Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

PubMed ID: 16339213

DOI: 10.1093/hmg/ddi447

PubMed ID: 16815977

Title: Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.

PubMed ID: 16815977

DOI: 10.1073/pnas.0510863103

PubMed ID: 17321752

Title: Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.

PubMed ID: 17321752

DOI: 10.1016/j.mcn.2007.01.012

PubMed ID: 18270207

Title: Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

PubMed ID: 18270207

DOI: 10.1093/hmg/ddn046

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 19665976

Title: A class of dynamin-like GTPases involved in the generation of the tubular ER network.

PubMed ID: 19665976

DOI: 10.1016/j.cell.2009.05.025

PubMed ID: 20200447

Title: Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.

PubMed ID: 20200447

DOI: 10.1172/jci40979

PubMed ID: 23969831

Title: Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.

PubMed ID: 23969831

DOI: 10.1073/pnas.1307391110

PubMed ID: 25751282

Title: Mutation in CPT1C Associated with pure autosomal dominant spastic paraplegia.

PubMed ID: 25751282

DOI: 10.1001/jamaneurol.2014.4769

PubMed ID: 27619977

Title: Cooperation of the ER-shaping proteins atlastin, lunapark, and reticulons to generate a tubular membrane network.

PubMed ID: 27619977

DOI: 10.7554/elife.18605

PubMed ID: 21220294

Title: Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.

PubMed ID: 21220294

DOI: 10.1073/pnas.1012792108

PubMed ID: 21368113

Title: Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.

PubMed ID: 21368113

DOI: 10.1073/pnas.1101643108

PubMed ID: 23334294

Title: Structural basis for conformational switching and GTP loading of the large G protein atlastin.

PubMed ID: 23334294

DOI: 10.1038/emboj.2012.353

PubMed ID: 12112092

Title: Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.

PubMed ID: 12112092

DOI: 10.1002/ana.10185

PubMed ID: 12939451

Title: Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

PubMed ID: 12939451

DOI: 10.1212/01.wnl.0000078189.73611.df

PubMed ID: 14695538

Title: Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

PubMed ID: 14695538

DOI: 10.1002/humu.9205

PubMed ID: 15184642

Title: Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

PubMed ID: 15184642

DOI: 10.1212/01.wnl.0000127698.88895.85

PubMed ID: 16533974

Title: De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

PubMed ID: 16533974

DOI: 10.1001/archneur.63.3.445

PubMed ID: 17427918

Title: Characterization of a novel SPG3A deletion in a French-Canadian family.

PubMed ID: 17427918

DOI: 10.1002/ana.21114

PubMed ID: 20932283

Title: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

PubMed ID: 20932283

DOI: 10.1186/1471-2377-10-89

PubMed ID: 21194679

Title: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

PubMed ID: 21194679

DOI: 10.1016/j.ajhg.2010.12.003

PubMed ID: 20718791

Title: Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

PubMed ID: 20718791

DOI: 10.1111/j.1399-0004.2010.01501.x

PubMed ID: 21336785

Title: Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

PubMed ID: 21336785

DOI: 10.1007/s00415-011-5934-z

PubMed ID: 23483706

Title: Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

PubMed ID: 23483706

DOI: 10.1002/humu.22309

PubMed ID: 24473461

Title: Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

PubMed ID: 24473461

DOI: 10.1038/ejhg.2014.5

PubMed ID: 24604904

Title: Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PubMed ID: 24604904

DOI: 10.1136/jnnp-2013-306740

Sequence Information:

  • Length: 558
  • Mass: 63544
  • Checksum: 68A33C39DD43504C
  • Sequence:
    • MAKNRRDRNS WGGFSEKTYE WSSEEEEPVK KAGPVQVLIV KDDHSFELDE TALNRILLSE 
AVRDKEVVAV SVAGAFRKGK SFLMDFMLRY MYNQESVDWV GDYNEPLTGF SWRGGSERET 
TGIQIWSEIF LINKPDGKKV AVLLMDTQGT FDSQSTLRDS ATVFALSTMI SSIQVYNLSQ 
NVQEDDLQHL QLFTEYGRLA MEETFLKPFQ SLIFLVRDWS FPYEFSYGAD GGAKFLEKRL 
KVSGNQHEEL QNVRKHIHSC FTNISCFLLP HPGLKVATNP NFDGKLKEID DEFIKNLKIL 
IPWLLSPESL DIKEINGNKI TCRGLVEYFK AYIKIYQGEE LPHPKSMLQA TAEANNLAAV 
ATAKDTYNKK MEEICGGDKP FLAPNDLQTK HLQLKEESVK LFRGVKKMGG EEFSRRYLQQ 
LESEIDELYI QYIKHNDSKN IFHAARTPAT LFVVIFITYV IAGVTGFIGL DIIASLCNMI 
MGLTLITLCT WAYIRYSGEY RELGAVIDQV AAALWDQGST NEALYKLYSA AATHRHLYHQ 
AFPTPKSEST EQSEKKKM

Genular Protein ID: 3922408705

Symbol: Q53F53_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53F53

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 2 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 3 SAM 2 SUPFAM 2

Citations:

PubMed ID: 8125298

Title: Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.

PubMed ID: 8125298

DOI: 10.1016/0378-1119(94)90802-8

PubMed ID: 9373149

Title: Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.

PubMed ID: 9373149

DOI: 10.1016/S0378-1119(97)00411-3

Sequence Information:

  • Length: 558
  • Mass: 63499
  • Checksum: DB37951B195D5C25
  • Sequence:
    • MAKNRRDRNS WGGFSEKTYE WSSEEEEPVK KAGPVQVLIV KDDHSFELDE TALNRILLSE 
AVRDKEVVAV SVAGAFRKGK SFLMDFMLRY MYNQESVDWV GDYNEPLTGF SWRGGSEREA 
TGIQIWSEIF LINKPDGKKV AVLLMDTQGT FDSQSTLRDS ATVFALSTMI SSIQVYNLSQ 
NVQEDDLQHL QLFTEYGRLA MEETFLKPFQ SLIFLVRDWS FPYEFSYGAD GGAKFLEKRL 
KVSGNQHEEL QNVRKHIHSC FTNISCFLLP HPGLKVATNP NFDGKLKEID DEFIKNLKIL 
IPWLLSPESL DIKEINGNKI TCRGLVEYFK AYIKIYQGEE LPHPKSMLQA TAEANNLAAV 
ATAKDTYNKK MEEICGGDKP FLAPNDLQTK HLQLKEESVK LFRGVKKMGG EEFSRRYLQQ 
LESEIDELYI QYIKHNDSKN IFHAARTPAT LFVVIFITYV IAGVTGFIGL DIVASLCNMI 
MGLTLITLCT WAYIRYSGEY RELGAVIDQV AAALWDQGST NEALYKLYSA AATHRHLYHQ 
AFPTPKSEST EQSEKKKM

Genular Protein ID: 4283560562

Symbol: A0A0S2Z5A2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z5A2

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 4 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 Pfam 1 RefSeq 2 SAM 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 553
  • Mass: 63055
  • Checksum: 663877DBC4B1FC67
  • Sequence:
    • MAKNRRDRNS WGGFSEKTYE WSSEEEEPVK KAGPVQVLIV KDDHSFELDE TALNRILLSE 
AVRDKEVVAV SVAGAFRKGK SFLMDFMLRY MYNQESVDWV GDYNEPLTGF SWRGGSERET 
TGIQIWSEIF LINKPDGKKV AVLLMDTQGT FDSQSTLRDS ATVFALSTMI SSIQVYNLSQ 
NVQEDDLQHL QLFTEYGRLA MEETFLKPFQ SLIFLVRDWS FPYEFSYGAD GGAKFLEKRL 
KVSGNQHEEL QNVRKHIHSC FTNISCFLLP HPGLKVATNP NFDGKLKEID DEFIKNLKIL 
IPWLLSPESL DIKEINGNKI TCRGLVEYFK AYIKIYQGEE LPHPKSMLQA TAEANNLAAV 
ATAKDTYNKK MEEICGGDKP FLAPNDLQTK HLQLKEESVK LFRGVKKMGG EEFSRRYLQQ 
LESEIDELYI QYIKHNDSKN IFHAARTPAT LFVVIFITYV IAGVTGFIGL DIIASLCNMI 
MGLTLITLCT WAYIRYSGEY RELGAVIDQV AAALWDQALY KLYSAAATHR HLYHQAFPTP 
KSESTEQSEK KKM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.