Details for: ATN1

Gene ID: 1822

Symbol: ATN1

Ensembl ID: ENSG00000111676

Description: atrophin 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: 261.1781
    Cell Significance Index: -40.6300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 157.6229
    Cell Significance Index: -39.9800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 109.0187
    Cell Significance Index: -44.9100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 92.9208
    Cell Significance Index: -43.8700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 81.8939
    Cell Significance Index: -33.2700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 34.8261
    Cell Significance Index: -33.2500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.1683
    Cell Significance Index: -40.9000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.7446
    Cell Significance Index: -42.1800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.4155
    Cell Significance Index: -41.1000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.4444
    Cell Significance Index: -20.6700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 4.3151
    Cell Significance Index: 33.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.9684
    Cell Significance Index: 102.5300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.8067
    Cell Significance Index: 51.7900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3867
    Cell Significance Index: 18.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1730
    Cell Significance Index: 190.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1257
    Cell Significance Index: 225.8100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1250
    Cell Significance Index: 1015.8000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.0466
    Cell Significance Index: 29.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9622
    Cell Significance Index: 132.1400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7116
    Cell Significance Index: 70.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6731
    Cell Significance Index: 133.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6546
    Cell Significance Index: 80.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6411
    Cell Significance Index: 229.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6047
    Cell Significance Index: 65.7700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5661
    Cell Significance Index: 16.3100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5250
    Cell Significance Index: 94.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5191
    Cell Significance Index: 283.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4787
    Cell Significance Index: 10.3700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4577
    Cell Significance Index: 202.3400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4390
    Cell Significance Index: 56.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4273
    Cell Significance Index: 19.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3550
    Cell Significance Index: 18.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3473
    Cell Significance Index: 21.8900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3453
    Cell Significance Index: 20.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3210
    Cell Significance Index: 22.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3131
    Cell Significance Index: 16.4400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2640
    Cell Significance Index: 6.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2483
    Cell Significance Index: 11.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2419
    Cell Significance Index: 16.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2325
    Cell Significance Index: 14.2900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2098
    Cell Significance Index: 9.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1543
    Cell Significance Index: 29.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1183
    Cell Significance Index: 15.2900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1136
    Cell Significance Index: 78.5600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0968
    Cell Significance Index: 16.5300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0724
    Cell Significance Index: 1.2400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0482
    Cell Significance Index: 90.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0458
    Cell Significance Index: 3.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0133
    Cell Significance Index: 24.5200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0105
    Cell Significance Index: 16.2400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0037
    Cell Significance Index: 2.3200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0052
    Cell Significance Index: -0.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0098
    Cell Significance Index: -7.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0129
    Cell Significance Index: -5.8600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0130
    Cell Significance Index: -17.6400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0148
    Cell Significance Index: -1.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0179
    Cell Significance Index: -13.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0227
    Cell Significance Index: -16.8000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0245
    Cell Significance Index: -15.2800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0376
    Cell Significance Index: -0.9400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0487
    Cell Significance Index: -1.3300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0494
    Cell Significance Index: -27.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0603
    Cell Significance Index: -1.0100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0662
    Cell Significance Index: -7.5800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0749
    Cell Significance Index: -1.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0789
    Cell Significance Index: -5.8800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0839
    Cell Significance Index: -8.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0944
    Cell Significance Index: -19.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1194
    Cell Significance Index: -17.3500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1241
    Cell Significance Index: -9.5300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1493
    Cell Significance Index: -42.9600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1506
    Cell Significance Index: -17.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1525
    Cell Significance Index: -17.7700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2467
    Cell Significance Index: -3.4600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2523
    Cell Significance Index: -14.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2617
    Cell Significance Index: -9.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3134
    Cell Significance Index: -6.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3498
    Cell Significance Index: -7.4500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3541
    Cell Significance Index: -36.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4096
    Cell Significance Index: -13.1200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4098
    Cell Significance Index: -32.4600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4287
    Cell Significance Index: -27.6600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4576
    Cell Significance Index: -20.2400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4887
    Cell Significance Index: -11.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5723
    Cell Significance Index: -35.0900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5733
    Cell Significance Index: -16.3600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6201
    Cell Significance Index: -23.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6322
    Cell Significance Index: -16.2500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.7629
    Cell Significance Index: -14.8900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.8425
    Cell Significance Index: -10.4500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.8427
    Cell Significance Index: -13.3700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8695
    Cell Significance Index: -31.9200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8742
    Cell Significance Index: -28.6200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8744
    Cell Significance Index: -27.8500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.8838
    Cell Significance Index: -5.3400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8902
    Cell Significance Index: -26.2200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8903
    Cell Significance Index: -18.9000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.8980
    Cell Significance Index: -10.7100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.8980
    Cell Significance Index: -11.5000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.8988
    Cell Significance Index: -15.5400

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:** 1. **Cellular localization:** ATN1 is predominantly expressed in neurons, glial cells, and muscle cells, suggesting its involvement in neural development, maintenance, and function. 2. **Protein structure:** ATN1 is a cytoplasmic protein that interacts with various cellular components, including actin filaments, microtubules, and transcription factors. 3. **Post-translational modifications:** ATN1 undergoes phosphorylation and ubiquitination, which modulate its activity and interactions with other proteins. **Pathways and Functions:** 1. **Anchoring junctions:** ATN1 interacts with cytoskeletal proteins to establish and maintain cell-cell adhesion, essential for tissue integrity and development. 2. **Apoptotic signaling:** ATN1 regulates the apoptotic process by modulating the activity of pro-apoptotic and anti-apoptotic proteins, such as Bcl-2 and Bcl-xL. 3. **Intracellular signaling:** ATN1 interacts with signaling molecules, including AKT and MAPK pathways, to regulate cellular responses to stimuli. 4. **Transcriptional regulation:** ATN1 modulates gene expression by interacting with transcription factors, such as NF-κB and AP-1, to regulate the expression of target genes. 5. **Neuroprotection:** ATN1 has been implicated in neuroprotection, as it regulates the expression of genes involved in neuronal survival and differentiation. **Clinical Significance:** 1. **Neurodegenerative diseases:** ATN1 has been associated with neurodegenerative disorders, such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 2. **Muscular dystrophy:** ATN1 mutations have been linked to muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. 3. **Cancer:** ATN1 has been implicated in cancer, as it regulates the expression of genes involved in cell growth, survival, and metastasis. 4. **Neurodevelopmental disorders:** ATN1 has been associated with neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. In conclusion, ATN1 is a complex protein that plays a crucial role in various cellular processes, including cell migration, apoptosis, and transcriptional regulation. Its dysregulation has been implicated in a range of diseases, including neurodegenerative disorders, muscular dystrophy, and cancer. Further research is needed to fully elucidate the functions of ATN1 and its role in human disease. **References:** * [Insert references to studies on ATN1 and its functions] **Note:** As an expert immunologist, I have focused on the cellular and molecular aspects of ATN1, highlighting its key characteristics, pathways, and functions. The clinical significance section provides an overview of the potential implications of ATN1 dysregulation in human disease.

Genular Protein ID: 1439481517

Symbol: ATN1_HUMAN

Name: Atrophin-1

UniProtKB Accession Codes:

P54259 Q99495 Q99621 Q9UEK7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 GO 21 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7842016

Title: Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).

PubMed ID: 7842016

DOI: 10.1038/ng1094-177

PubMed ID: 7485154

Title: Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.

PubMed ID: 7485154

PubMed ID: 8965642

Title: DRPLA gene (atrophin-1) sequence and mRNA expression in human brain.

PubMed ID: 8965642

DOI: 10.1016/0169-328x(95)00241-j

PubMed ID: 9074930

Title: Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.

PubMed ID: 9074930

DOI: 10.1101/gr.7.3.268

PubMed ID: 8852663

Title: A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.

PubMed ID: 8852663

DOI: 10.1093/hmg/5.3.373

PubMed ID: 8136840

Title: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

PubMed ID: 8136840

DOI: 10.1038/ng0194-9

PubMed ID: 7951323

Title: The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.

PubMed ID: 7951323

DOI: 10.1038/ng0894-521

PubMed ID: 9361003

Title: Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis.

PubMed ID: 9361003

DOI: 10.1074/jbc.272.46.29238

PubMed ID: 9647693

Title: Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.

PubMed ID: 9647693

DOI: 10.1006/mcne.1998.0677

PubMed ID: 10332026

Title: Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.

PubMed ID: 10332026

DOI: 10.1093/hmg/8.6.947

PubMed ID: 10085113

Title: Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity.

PubMed ID: 10085113

DOI: 10.1074/jbc.274.13.8730

PubMed ID: 10814707

Title: Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.

PubMed ID: 10814707

DOI: 10.1093/hmg/9.9.1433

PubMed ID: 10973986

Title: Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription.

PubMed ID: 10973986

DOI: 10.1083/jcb.150.5.939

PubMed ID: 12812981

Title: Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase.

PubMed ID: 12812981

DOI: 10.1093/hmg/ddg168

PubMed ID: 12464607

Title: Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity.

PubMed ID: 12464607

DOI: 10.1074/jbc.m211224200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19131340

Title: Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells.

PubMed ID: 19131340

DOI: 10.1074/jbc.m809333200

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20977674

Title: Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy.

PubMed ID: 20977674

DOI: 10.1111/j.1742-4658.2010.07893.x

PubMed ID: 20410308

Title: Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.

PubMed ID: 20410308

DOI: 10.1074/jbc.m109.084525

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 30827498

Title: De novo variants disrupting the HX repeat motif of ATN1 cause a recognizable non-progressive neurocognitive syndrome.

PubMed ID: 30827498

DOI: 10.1016/j.ajhg.2019.01.013

Sequence Information:

  • Length: 1190
  • Mass: 125414
  • Checksum: B47603486C672637
  • Sequence:
    • MKTRQNKDSM SMRSGRKKEA PGPREELRSR GRASPGGVST SSSDGKAEKS RQTAKKARVE 
EASTPKVNKQ GRSEEISESE SEETNAPKKT KTEQELPRPQ SPSDLDSLDG RSLNDDGSSD 
PRDIDQDNRS TSPSIYSPGS VENDSDSSSG LSQGPARPYH PPPLFPPSPQ PPDSTPRQPE 
ASFEPHPSVT PTGYHAPMEP PTSRMFQAPP GAPPPHPQLY PGGTGGVLSG PPMGPKGGGA 
ASSVGGPNGG KQHPPPTTPI SVSSSGASGA PPTKPPTTPV GGGNLPSAPP PANFPHVTPN 
LPPPPALRPL NNASASPPGL GAQPLPGHLP SPHAMGQGMG GLPPGPEKGP TLAPSPHSLP 
PASSSAPAPP MRFPYSSSSS SSAAASSSSS SSSSSASPFP ASQALPSYPH SFPPPTSLSV 
SNQPPKYTQP SLPSQAVWSQ GPPPPPPYGR LLANSNAHPG PFPPSTGAQS TAHPPVSTHH 
HHHQQQQQQQ QQQQQQQQQQ QQHHGNSGPP PPGAFPHPLE GGSSHHAHPY AMSPSLGSLR 
PYPPGPAHLP PPHSQVSYSQ AGPNGPPVSS SSNSSSSTSQ GSYPCSHPSP SQGPQGAPYP 
FPPVPTVTTS SATLSTVIAT VASSPAGYKT ASPPGPPPYG KRAPSPGAYK TATPPGYKPG 
SPPSFRTGTP PGYRGTSPPA GPGTFKPGSP TVGPGPLPPA GPSGLPSLPP PPAAPASGPP 
LSATQIKQEP AEEYETPESP VPPARSPSPP PKVVDVPSHA SQSARFNKHL DRGFNSCARS 
DLYFVPLEGS KLAKKRADLV EKVRREAEQR AREEKERERE REREKERERE KERELERSVK 
LAQEGRAPVE CPSLGPVPHR PPFEPGSAVA TVPPYLGPDT PALRTLSEYA RPHVMSPGNR 
NHPFYVPLGA VDPGLLGYNV PALYSSDPAA REREREARER DLRDRLKPGF EVKPSELEPL 
HGVPGPGLDP FPRHGGLALQ PGPPGLHPFP FHPSLGPLER ERLALAAGPA LRPDMSYAER 
LAAERQHAER VAALGNDPLA RLQMLNVTPH HHQHSHIHSH LHLHQQDAIH AASASVHPLI 
DPLASGSHLT RIPYPAGTLP NPLLPHPLHE NEVLRHQLFA APYRDLPASL SAPMSAAHQL 
QAMHAQSAEL QRLALEQQQW LHAHHPLHSV PLPAQEDYYS HLKKESDKPL

Genular Protein ID: 2058533043

Symbol: Q86V38_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86V38

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 2 IntAct 1 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1

Citations:

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

Sequence Information:

  • Length: 1191
  • Mass: 125542
  • Checksum: 4301148834EA6714
  • Sequence:
    • MKTRQNKDSM SMRSGRKKEA PGPREELRSR GRASPGGVST SSSDGKAEKS RQTAKKARVE 
EASTPKVNKQ GRSEEISESE SEETNAPKKT KTEQELPRPQ SPSDLDSLDG RSLNDDGSSD 
PRDIDQDNRS TSPSIYSPGS VENDSDSSSG LSQGPARPYH PPPLFPPSPQ PPDSTPRQPE 
ASFEPHPSVT PTGYHAPMEP PTSRMFQAPP GAPPPHPQLY PGGTGGVLSG PPMGPKGGGA 
ASSVGGPNGG KQHPPPTTPI SVSSSGASGA PPTKPPTTPV GGGNLPSAPP PANFPHVTPN 
LPPPPALRPL NNASASPPGL GAQPLPGHLP SPHAMGQGMG GLPPGPEKGP TLAPSPHSLP 
PASSSAPAPP MRFPYSSSSS SSAAASSSSS SSSSSASPFP ASQALPSYPH SFPPPTSLSV 
SNQPPKYTQP SLPSQAVWSQ GPPPPPPYGR LLANSNAHPG PFPPSTGAQS TAHPPVSTHH 
HHHQQQQQQQ QQQQQQQQQQ QQQHHGNSGP PPPGAFPHPL EGGSSHHAHP YAMSPSLGSL 
RPYPPGPAHL PPPHSQVSYS QAGPNGPPVS SSSNSSSSTS QGSYPCSHPS PSQGPQGAPY 
PFPPVPTVTT SSATLSTVIA TVASSPAGYK TASPPGPPPY GKRAPSPGAY KTATPPGYKP 
GSPPSFRTGT PPGYRGTSPP AGPGTFKPGS PTVGPGPLPP AGPSGLPSLP PPPAAPASGP 
PLSATQIKQE PAEEYETPES PVPPARSPSP PPKVVDVPSH ASQSARFNKH LDRGFNSCAR 
SDLYFVPLEG SKLAKKRADL VEKVRREAEQ RAREEKERER EREREKERER EKERELERSV 
KLAQEGRAPV ECPSLGPVPH RPPFEPGSAV ATVPPYLGPD TPALRTLSEY ARPHVMSPGN 
RNHPFYVPLG AVDPGLLGYN VPALYSSDPA AREREREARE RDLRDRLKPG FEVKPSELEP 
LHGVPGPGLD PFPRHGGLAL QPGPPGLHPF PFHPSLGPLE RERLALAAGP ALRPDMSYAE 
RLAAERQHAE RVAALGNDPL ARLQMLNVTP HHHQHSHIHS HLHLHQQDAI HAASASVHPL 
IDPLASGSHL TRIPYPAGTL PNPLLPHPLH ENEVLRHQLF AAPYRDLPAS LSAPMSAAHQ 
LQAMHAQSAE LQRLALEQQQ WLHAHHPLHS VPLPAQEDYY SHLKKESDKP L

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.