Details for: UBA1

Gene ID: 7317

Symbol: UBA1

Ensembl ID: ENSG00000130985

Description: ubiquitin like modifier activating enzyme 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: 269.3107
    Cell Significance Index: -41.8900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 157.9777
    Cell Significance Index: -40.0700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 110.0868
    Cell Significance Index: -45.3500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 102.4363
    Cell Significance Index: -48.3600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 100.1952
    Cell Significance Index: -40.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 88.7662
    Cell Significance Index: -45.6600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 43.0325
    Cell Significance Index: -41.0900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 35.7596
    Cell Significance Index: -44.0900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.0945
    Cell Significance Index: -43.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.5564
    Cell Significance Index: -35.5000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.4089
    Cell Significance Index: -45.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.7682
    Cell Significance Index: -19.1900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.6240
    Cell Significance Index: 176.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.4147
    Cell Significance Index: 230.0800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.1426
    Cell Significance Index: 12.1400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0465
    Cell Significance Index: 571.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0275
    Cell Significance Index: 206.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9637
    Cell Significance Index: 191.2500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8396
    Cell Significance Index: 99.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7916
    Cell Significance Index: 17.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7758
    Cell Significance Index: 95.4000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7565
    Cell Significance Index: 21.8000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.7441
    Cell Significance Index: 48.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7190
    Cell Significance Index: 129.6200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.7007
    Cell Significance Index: 36.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6596
    Cell Significance Index: 90.5800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6470
    Cell Significance Index: 17.6100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6250
    Cell Significance Index: 29.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6224
    Cell Significance Index: 562.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5750
    Cell Significance Index: 16.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5340
    Cell Significance Index: 52.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5153
    Cell Significance Index: 227.8300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5077
    Cell Significance Index: 182.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4570
    Cell Significance Index: 23.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4097
    Cell Significance Index: 18.5700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3902
    Cell Significance Index: 10.2600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3602
    Cell Significance Index: 16.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3481
    Cell Significance Index: 25.9500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3248
    Cell Significance Index: 41.6400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2895
    Cell Significance Index: 17.8000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2512
    Cell Significance Index: 47.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2279
    Cell Significance Index: 29.4400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.2160
    Cell Significance Index: 3.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1874
    Cell Significance Index: 6.5900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1820
    Cell Significance Index: 31.0700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1786
    Cell Significance Index: 5.1200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1674
    Cell Significance Index: 11.8400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1419
    Cell Significance Index: 98.1400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1120
    Cell Significance Index: 12.7900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0698
    Cell Significance Index: 1.2900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0628
    Cell Significance Index: 1.4500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0517
    Cell Significance Index: 3.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0124
    Cell Significance Index: 9.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0113
    Cell Significance Index: 21.2100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0032
    Cell Significance Index: -2.4200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0085
    Cell Significance Index: -15.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0113
    Cell Significance Index: -8.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0149
    Cell Significance Index: -9.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0149
    Cell Significance Index: -23.0000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0198
    Cell Significance Index: -0.5300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0206
    Cell Significance Index: -28.0500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0294
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0394
    Cell Significance Index: -24.6200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0454
    Cell Significance Index: -0.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0537
    Cell Significance Index: -24.3800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0543
    Cell Significance Index: -5.5500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0556
    Cell Significance Index: -2.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0627
    Cell Significance Index: -35.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0680
    Cell Significance Index: -4.5700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0792
    Cell Significance Index: -0.8200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0826
    Cell Significance Index: -6.3400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1013
    Cell Significance Index: -14.7200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1113
    Cell Significance Index: -23.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1132
    Cell Significance Index: -6.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1619
    Cell Significance Index: -46.5800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1668
    Cell Significance Index: -19.1100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2190
    Cell Significance Index: -5.6300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2830
    Cell Significance Index: -4.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2954
    Cell Significance Index: -9.4600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3132
    Cell Significance Index: -36.5100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3215
    Cell Significance Index: -8.6000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3231
    Cell Significance Index: -9.4900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3370
    Cell Significance Index: -8.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3943
    Cell Significance Index: -31.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4181
    Cell Significance Index: -43.5300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4438
    Cell Significance Index: -11.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4883
    Cell Significance Index: -10.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4969
    Cell Significance Index: -6.7800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5008
    Cell Significance Index: -14.2900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5170
    Cell Significance Index: -12.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5467
    Cell Significance Index: -9.1500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6526
    Cell Significance Index: -40.0100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6663
    Cell Significance Index: -14.5900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6701
    Cell Significance Index: -5.3500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.6719
    Cell Significance Index: -8.6100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7294
    Cell Significance Index: -21.4900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8012
    Cell Significance Index: -35.4400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.8459
    Cell Significance Index: -7.7900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9237
    Cell Significance Index: -33.9100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.9640
    Cell Significance Index: -20.4600

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:** UBA1 is a member of the E1 enzyme family, which activates ubiquitin-like modifiers (e.g., SUMO, NEDD8) for conjugation to target proteins. The UBA1 protein is a homodimeric enzyme that possesses a catalytic domain, enabling it to facilitate the transfer of ubiquitin-like modifiers to target proteins. This enzyme is highly conserved across species, suggesting its essential role in maintaining cellular integrity and immune function. **Pathways and Functions:** UBA1 is involved in several key pathways, including: 1. **Antigen Processing and Presentation:** UBA1 plays a crucial role in the processing and presentation of antigens by major histocompatibility complex (MHC) class I molecules. The enzyme activates ubiquitin-like modifiers, which are then conjugated to antigens, facilitating their presentation to T-cells. 2. **Protein Degradation:** UBA1 is also involved in the ubiquitin-dependent protein catabolic process, where ubiquitin-like modifiers mark proteins for degradation by the proteasome. 3. **Immune Response:** UBA1 is expressed in immune cells, such as monocytes and dendritic cells, where it contributes to the activation of immune responses by facilitating the processing and presentation of antigens. 4. **Cellular Homeostasis:** UBA1 is also involved in maintaining cellular homeostasis by regulating protein degradation and processing in various cell types. **Clinical Significance:** Dysregulation of UBA1 has been implicated in various diseases, including: 1. **Autoimmune Disorders:** Alterations in UBA1 expression or function may contribute to autoimmune diseases, such as rheumatoid arthritis and lupus. 2. **Cancer:** UBA1 is overexpressed in certain types of cancer, including breast and lung cancer, where it may contribute to tumor progression and immune evasion. 3. **Infectious Diseases:** UBA1 is involved in the regulation of immune responses to infections, and alterations in its expression or function may contribute to the progression of diseases such as HIV and tuberculosis. In conclusion, UBA1 is a critical gene involved in protein modification and immune function. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of UBA1 and its role in maintaining cellular homeostasis and immune function.

Genular Protein ID: 3230077572

Symbol: UBA1_HUMAN

Name: Ubiquitin-like modifier-activating enzyme 1

UniProtKB Accession Codes:

P22314 Q5JRR8 Q96E13

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 3 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CPTAC 2 CPTC 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 6 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 6 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 15 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1606621

Title: Complementation by a cloned human ubiquitin-activating enzyme E1 of the S-phase-arrested mouse FM3A cell mutant with thermolabile E1.

PubMed ID: 1606621

DOI: 10.1247/csf.17.113

PubMed ID: 1986373

Title: Molecular cloning, sequence, and tissue distribution of the human ubiquitin-activating enzyme E1.

PubMed ID: 1986373

DOI: 10.1073/pnas.88.1.258

PubMed ID: 1871145

Title:

PubMed ID: 1871145

DOI: 10.1073/pnas.88.16.7456c

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 2390975

Title: Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication.

PubMed ID: 2390975

DOI: 10.1002/j.1460-2075.1990.tb07483.x

PubMed ID: 1447181

Title: Isoforms of mammalian ubiquitin-activating enzyme.

PubMed ID: 1447181

DOI: 10.1016/s0021-9258(18)35767-3

PubMed ID: 1376922

Title: Immunoelectron microscopic localization of the ubiquitin-activating enzyme E1 in HepG2 cells.

PubMed ID: 1376922

DOI: 10.1073/pnas.89.12.5542

PubMed ID: 7528747

Title: Human ubiquitin-activating enzyme, E1. Indication of potential nuclear and cytoplasmic subpopulations using epitope-tagged cDNA constructs.

PubMed ID: 7528747

DOI: 10.1016/s0021-9258(20)30113-7

PubMed ID: 9099746

Title: Identification of a region within the ubiquitin-activating enzyme required for nuclear targeting and phosphorylation.

PubMed ID: 9099746

DOI: 10.1074/jbc.272.16.10895

PubMed ID: 16139798

Title: Proteomic identification of proteins conjugated to ISG15 in mouse and human cells.

PubMed ID: 16139798

DOI: 10.1016/j.bbrc.2005.08.132

PubMed ID: 15592455

Title: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.

PubMed ID: 15592455

DOI: 10.1038/nbt1046

PubMed ID: 16227972

Title: Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.

PubMed ID: 16227972

DOI: 10.1038/nature04256

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

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: 20068231

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

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 22456334

Title: Ubiquitin-activating enzyme UBA1 is required for cellular response to DNA damage.

PubMed ID: 22456334

DOI: 10.4161/cc.19978

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33108101

Title: Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

PubMed ID: 33108101

DOI: 10.1056/nejmoa2026834

PubMed ID: 25209502

Title: Expression, purification, and crystal structure of N-terminal domains of human ubiquitin-activating enzyme (E1).

PubMed ID: 25209502

DOI: 10.1080/09168451.2014.923301

PubMed ID: 18179898

Title: Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

PubMed ID: 18179898

DOI: 10.1016/j.ajhg.2007.09.009

PubMed ID: 23518311

Title: Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

PubMed ID: 23518311

DOI: 10.1016/j.nmd.2013.02.001

Sequence Information:

  • Length: 1058
  • Mass: 117849
  • Checksum: 4B413AAA75FAA562
  • Sequence:
    • MSSSPLSKKR RVSGPDPKPG SNCSPAQSVL SEVPSVPTNG MAKNGSEADI DEGLYSRQLY 
VLGHEAMKRL QTSSVLVSGL RGLGVEIAKN IILGGVKAVT LHDQGTAQWA DLSSQFYLRE 
EDIGKNRAEV SQPRLAELNS YVPVTAYTGP LVEDFLSGFQ VVVLTNTPLE DQLRVGEFCH 
NRGIKLVVAD TRGLFGQLFC DFGEEMILTD SNGEQPLSAM VSMVTKDNPG VVTCLDEARH 
GFESGDFVSF SEVQGMVELN GNQPMEIKVL GPYTFSICDT SNFSDYIRGG IVSQVKVPKK 
ISFKSLVASL AEPDFVVTDF AKFSRPAQLH IGFQALHQFC AQHGRPPRPR NEEDAAELVA 
LAQAVNARAL PAVQQNNLDE DLIRKLAYVA AGDLAPINAF IGGLAAQEVM KACSGKFMPI 
MQWLYFDALE CLPEDKEVLT EDKCLQRQNR YDGQVAVFGS DLQEKLGKQK YFLVGAGAIG 
CELLKNFAMI GLGCGEGGEI IVTDMDTIEK SNLNRQFLFR PWDVTKLKSD TAAAAVRQMN 
PHIRVTSHQN RVGPDTERIY DDDFFQNLDG VANALDNVDA RMYMDRRCVY YRKPLLESGT 
LGTKGNVQVV IPFLTESYSS SQDPPEKSIP ICTLKNFPNA IEHTLQWARD EFEGLFKQPA 
ENVNQYLTDP KFVERTLRLA GTQPLEVLEA VQRSLVLQRP QTWADCVTWA CHHWHTQYSN 
NIRQLLHNFP PDQLTSSGAP FWSGPKRCPH PLTFDVNNPL HLDYVMAAAN LFAQTYGLTG 
SQDRAAVATF LQSVQVPEFT PKSGVKIHVS DQELQSANAS VDDSRLEELK ATLPSPDKLP 
GFKMYPIDFE KDDDSNFHMD FIVAASNLRA ENYDIPSADR HKSKLIAGKI IPAIATTTAA 
VVGLVCLELY KVVQGHRQLD SYKNGFLNLA LPFFGFSEPL AAPRHQYYNQ EWTLWDRFEV 
QGLQPNGEEM TLKQFLDYFK TEHKLEITML SQGVSMLYSF FMPAAKLKER LDQPMTEIVS 
RVSKRKLGRH VRALVLELCC NDESGEDVEV PYVRYTIR

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.