Details for: HUWE1

Gene ID: 10075

Symbol: HUWE1

Ensembl ID: ENSG00000086758

Description: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Associated with

Cells (max top 100)

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

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.16
    Marker Score: 55,392
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.91
    Marker Score: 1,411
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.2
    Marker Score: 13,031
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.11
    Marker Score: 2,333
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.06
    Marker Score: 43,864
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.02
    Marker Score: 76,712
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.99
    Marker Score: 2,287
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.99
    Marker Score: 1,772
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.96
    Marker Score: 8,212
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.93
    Marker Score: 1,081
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.91
    Marker Score: 38,034
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.91
    Marker Score: 557
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.89
    Marker Score: 2,287
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.88
    Marker Score: 4,131
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.88
    Marker Score: 2,530
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.88
    Marker Score: 2,007
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.86
    Marker Score: 14,233
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.85
    Marker Score: 1,080
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.85
    Marker Score: 68,317
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.85
    Marker Score: 7,674
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.84
    Marker Score: 1,416
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.83
    Marker Score: 27,399
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.82
    Marker Score: 1,216
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.82
    Marker Score: 111,720
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.81
    Marker Score: 894
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.79
    Marker Score: 16,820
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.79
    Marker Score: 1,881
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.79
    Marker Score: 6,905
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.78
    Marker Score: 1,043
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.76
    Marker Score: 737
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.75
    Marker Score: 16,660
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.7
    Marker Score: 687
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.7
    Marker Score: 2,123
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.67
    Marker Score: 3,220
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.67
    Marker Score: 14,314
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.64
    Marker Score: 2,364
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.64
    Marker Score: 950
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.62
    Marker Score: 1,746
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.61
    Marker Score: 962
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.57
    Marker Score: 451
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.56
    Marker Score: 1,484
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.56
    Marker Score: 1,677
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.55
    Marker Score: 3,921
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.55
    Marker Score: 819
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.52
    Marker Score: 1,013
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.52
    Marker Score: 2,233
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.49
    Marker Score: 11,128
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.49
    Marker Score: 13,120
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.49
    Marker Score: 14,955
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.47
    Marker Score: 567
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.47
    Marker Score: 49,943
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.46
    Marker Score: 50,620
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.45
    Marker Score: 1,228
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.44
    Marker Score: 2,215
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.41
    Marker Score: 31,593
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.41
    Marker Score: 3,205
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.41
    Marker Score: 960
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.37
    Marker Score: 4,888
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.37
    Marker Score: 763
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.36
    Marker Score: 653
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.36
    Marker Score: 6,284
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.36
    Marker Score: 758
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.36
    Marker Score: 1,440
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.35
    Marker Score: 631
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.34
    Marker Score: 1,665
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.34
    Marker Score: 422
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.33
    Marker Score: 1,386
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.33
    Marker Score: 1,670
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.32
    Marker Score: 1,491
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.31
    Marker Score: 5,453
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.31
    Marker Score: 566
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.31
    Marker Score: 650
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.31
    Marker Score: 6,416
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.3
    Marker Score: 358
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.3
    Marker Score: 479
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.29
    Marker Score: 1,313
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.28
    Marker Score: 4,751
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.28
    Marker Score: 407
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.28
    Marker Score: 463
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.27
    Marker Score: 1,125
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.27
    Marker Score: 474
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.27
    Marker Score: 880
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.25
    Marker Score: 3,362
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.25
    Marker Score: 341
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.24
    Marker Score: 650
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.24
    Marker Score: 3,385
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.24
    Marker Score: 422
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.23
    Marker Score: 1,744
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.22
    Marker Score: 829
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.22
    Marker Score: 957
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.22
    Marker Score: 301
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.21
    Marker Score: 7,806
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.21
    Marker Score: 2,149
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.19
    Marker Score: 295
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.19
    Marker Score: 448
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.18
    Marker Score: 282
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.17
    Marker Score: 407
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.17
    Marker Score: 270
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.16
    Marker Score: 470
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.15
    Marker Score: 1,059

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** HUWE1 is a member of the E3 ubiquitin ligase family, characterized by the presence of three distinct domains: HECT, UBA, and WWE. These domains confer the ligase activity, enabling the protein to recognize and bind to specific ubiquitin substrates. HUWE1's ubiquitin ligase activity is essential for the regulation of protein ubiquitination, a post-translational modification that plays a critical role in protein degradation, protein-protein interactions, and signal transduction. **Pathways and Functions:** HUWE1 is involved in numerous cellular pathways, including: 1. **Adaptive Immune System:** HUWE1 regulates the processing and presentation of antigens through class I MHC molecules, ensuring proper immune response. 2. **Antigen Processing:** HUWE1 is involved in the ubiquitination of antigens, facilitating their degradation by the proteasome and subsequent presentation to T-cells. 3. **Base-Excision Repair:** HUWE1 plays a role in the repair of DNA damage by regulating the activity of DNA repair enzymes. 4. **Cell Differentiation:** HUWE1 is required for the proper differentiation of various cell types, including cardiac muscle cells and cerebral cortex astrocytes. 5. **Chromatin Remodeling:** HUWE1 regulates chromatin structure and function, influencing gene expression and transcriptional regulation. 6. **Circadian Regulation:** HUWE1 is involved in the regulation of circadian rhythms, influencing the expression of genes involved in the circadian clock. **Clinical Significance:** The dysregulation of HUWE1 has been implicated in various diseases, including: 1. **Autoimmune Disorders:** Altered HUWE1 expression has been linked to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 2. **Cancer:** HUWE1's role in protein degradation and cell differentiation makes it a potential target for cancer therapy. 3. **Neurological Disorders:** HUWE1's involvement in chromatin remodeling and circadian regulation suggests its potential role in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, HUWE1 is a multifaceted protein that plays a crucial role in various cellular processes, including immune system regulation, cell differentiation, and protein degradation. Further research is necessary to fully elucidate the mechanisms by which HUWE1 functions and to explore its potential therapeutic applications.

Genular Protein ID: 204205198

Symbol: HUWE1_HUMAN

Name: E3 ubiquitin-protein ligase HUWE1

UniProtKB Accession Codes:

Q7Z6Z7 O15029 Q4G2Z2 Q5H961 Q6P4D0 Q8NG67 Q9BUI0 Q9HCJ4 Q9NSL6 Q9P0A9

Database IDs:

ABCD 1 AGR 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CPTAC 2 CTD 1 CarbonylDB 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 21 EMDB 5 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 27 Gene3D 6 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 25 PDBsum 15 PIR 1 PRO 1 PROSITE 3 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15989956

Title: ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor.

PubMed ID: 15989956

DOI: 10.1016/j.cell.2005.03.037

PubMed ID: 15989957

Title: Mule/ARF-BP1, a BH3-only E3 ubiquitin ligase, catalyzes the polyubiquitination of Mcl-1 and regulates apoptosis.

PubMed ID: 15989957

DOI: 10.1016/j.cell.2005.06.009

PubMed ID: 15767685

Title: Characterization of E3Histone, a novel testis ubiquitin protein ligase which ubiquitinates histones.

PubMed ID: 15767685

DOI: 10.1128/mcb.25.7.2819-2831.2005

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 9205841

Title: Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9205841

DOI: 10.1093/dnares/4.2.141

PubMed ID: 10997877

Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10997877

DOI: 10.1093/dnares/7.4.271

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

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: 17974005

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

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15567145

Title: Over-expression of human UREB1 in colorectal cancer: HECT domain of human UREB1 inhibits the activity of tumor suppressor p53 protein.

PubMed ID: 15567145

DOI: 10.1016/j.bbrc.2004.11.004

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: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17567951

Title: Cdc6 stability is regulated by the Huwe1 ubiquitin ligase after DNA damage.

PubMed ID: 17567951

DOI: 10.1091/mbc.e07-02-0173

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18488021

Title: The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein.

PubMed ID: 18488021

DOI: 10.1038/ncb1727

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: 19713937

Title: Ubiquitin ligase ARF-BP1/Mule modulates base excision repair.

PubMed ID: 19713937

DOI: 10.1038/emboj.2009.243

PubMed ID: 19037095

Title: Human BRE1 is an E3 ubiquitin ligase for Ebp1 tumor suppressor.

PubMed ID: 19037095

DOI: 10.1091/mbc.e08-09-0983

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

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: 20534529

Title: E3 ligases Arf-bp1 and Pam mediate lithium-stimulated degradation of the circadian heme receptor Rev-erb alpha.

PubMed ID: 20534529

DOI: 10.1073/pnas.1000438107

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: 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: 26214738

Title: Regulation of mitochondrial morphology and function by stearoylation of TFR1.

PubMed ID: 26214738

DOI: 10.1038/nature14601

PubMed ID: 30217973

Title: HUWE1 E3 ligase promotes PINK1/PARKIN-independent mitophagy by regulating AMBRA1 activation via IKKalpha.

PubMed ID: 30217973

DOI: 10.1038/s41467-018-05722-3

PubMed ID: 35776542

Title: C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways.

PubMed ID: 35776542

DOI: 10.1073/pnas.2111262119

PubMed ID: 36631436

Title: The HAPSTR2 retrogene buffers stress signaling and resilience in mammals.

PubMed ID: 36631436

DOI: 10.1038/s41467-022-35697-1

PubMed ID: 18252223

Title: Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

PubMed ID: 18252223

DOI: 10.1016/j.ajhg.2007.11.002

PubMed ID: 23092983

Title: Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

PubMed ID: 23092983

DOI: 10.1038/tp.2012.102

PubMed ID: 25985138

Title: Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

PubMed ID: 25985138

DOI: 10.1038/ng.3304

PubMed ID: 27130160

Title: HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

PubMed ID: 27130160

DOI: 10.1136/bmjopen-2015-009537

PubMed ID: 27884935

Title: Diagnostic value of exome and whole genome sequencing in craniosynostosis.

PubMed ID: 27884935

DOI: 10.1136/jmedgenet-2016-104215

PubMed ID: 29180823

Title: HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

PubMed ID: 29180823

DOI: 10.1038/s41431-017-0038-6

Sequence Information:

  • Length: 4374
  • Mass: 481891
  • Checksum: FA9D3A7712F6393B
  • Sequence:
    • MKVDRTKLKK TPTEAPADCR ALIDKLKVCN DEQLLLELQQ IKTWNIGKCE LYHWVDLLDR 
FDGILADAGQ TVENMSWMLV CDRPEREQLK MLLLAVLNFT ALLIEYSFSR HLYSSIEHLT 
TLLASSDMQV VLAVLNLLYV FSKRSNYITR LGSDKRTPLL TRLQHLAESW GGKENGFGLA 
ECCRDLHMMK YPPSATTLHF EFYADPGAEV KIEKRTTSNT LHYIHIEQLD KISESPSEIM 
ESLTKMYSIP KDKQMLLFTH IRLAHGFSNH RKRLQAVQAR LHAISILVYS NALQESANSI 
LYNGLIEELV DVLQITDKQL MEIKAASLRT LTSIVHLERT PKLSSIIDCT GTASYHGFLP 
VLVRNCIQAM IDPSMDPYPH QFATALFSFL YHLASYDAGG EALVSCGMME ALLKVIKFLG 
DEQDQITFVT RAVRVVDLIT NLDMAAFQSH SGLSIFIYRL EHEVDLCRKE CPFVIKPKIQ 
RPNTTQEGEE METDMDGVQC IPQRAALLKS MLNFLKKAIQ DPAFSDGIRH VMDGSLPTSL 
KHIISNAEYY GPSLFLLATE VVTVFVFQEP SLLSSLQDNG LTDVMLHALL IKDVPATREV 
LGSLPNVFSA LCLNARGLQS FVQCQPFERL FKVLLSPDYL PAMRRRRSSD PLGDTASNLG 
SAVDELMRHQ PTLKTDATTA IIKLLEEICN LGRDPKYICQ KPSIQKADGT ATAPPPRSNH 
AAEEASSEDE EEEEVQAMQS FNSTQQNETE PNQQVVGTEE RIPIPLMDYI LNVMKFVESI 
LSNNTTDDHC QEFVNQKGLL PLVTILGLPN LPIDFPTSAA CQAVAGVCKS ILTLSHEPKV 
LQEGLLQLDS ILSSLEPLHR PIESPGGSVL LRELACAGNV ADATLSAQAT PLLHALTAAH 
AYIMMFVHTC RVGQSEIRSI SVNQWGSQLG LSVLSKLSQL YCSLVWESTV LLSLCTPNSL 
PSGCEFGQAD MQKLVPKDEK AGTTQGGKRS DGEQDGAAGS MDASTQGLLE GIGLDGDTLA 
PMETDEPTAS DSKGKSKITP AMAARIKQIK PLLSASSRLG RALAELFGLL VKLCVGSPVR 
QRRSHHAAST TTAPTPAARS TASALTKLLT KGLSWQPPPY TPTPRFRLTF FICSVGFTSP 
MLFDERKYPY HLMLQKFLCS GGHNALFETF NWALSMGGKV PVSEGLEHSD LPDGTGEFLD 
AWLMLVEKMV NPTTVLESPH SLPAKLPGGV QNFPQFSALR FLVVTQKAAF TCIKNLWNRK 
PLKVYGGRMA ESMLAILCHI LRGEPVIRER LSKEKEGSRG EEDTGQEEGG SRREPQVNQQ 
QLQQLMDMGF TREHAMEALL NTSTMEQATE YLLTHPPPIM GGVVRDLSMS EEDQMMRAIA 
MSLGQDIPMD QRAESPEEVA CRKEEEERKA REKQEEEEAK CLEKFQDADP LEQDELHTFT 
DTMLPGCFHL LDELPDTVYR VCDLIMTAIK RNGADYRDMI LKQVVNQVWE AADVLIKAAL 
PLTTSDTKTV SEWISQMATL PQASNLATRI LLLTLLFEEL KLPCAWVVES SGILNVLIKL 
LEVVQPCLQA AKEQKEVQTP KWITPVLLLI DFYEKTAISS KRRAQMTKYL QSNSNNWRWF 
DDRSGRWCSY SASNNSTIDS AWKSGETSVR FTAGRRRYTV QFTTMVQVNE ETGNRRPVML 
TLLRVPRLNK NSKNSNGQEL EKTLEESKEM DIKRKENKGN DTPLALESTN TEKETSLEET 
KIGEILIQGL TEDMVTVLIR ACVSMLGVPV DPDTLHATLR LCLRLTRDHK YAMMFAELKS 
TRMILNLTQS SGFNGFTPLV TLLLRHIIED PCTLRHTMEK VVRSAATSGA GSTTSGVVSG 
SLGSREINYI LRVLGPAACR NPDIFTEVAN CCIRIALPAP RGSGTASDDE FENLRIKGPN 
AVQLVKTTPL KPSPLPVIPD TIKEVIYDML NALAAYHAPE EADKSDPKPG VMTQEVGQLL 
QDMGDDVYQQ YRSLTRQSSD FDTQSGFSIN SQVFAADGAS TETSASGTSQ GEASTPEESR 
DGKKDKEGDR ASEEGKQKGK GSKPLMPTST ILRLLAELVR SYVGIATLIA NYSYTVGQSE 
LIKEDCSVLA FVLDHLLPHT QNAEDKDTPA LARLFLASLA AAGSGTDAQV ALVNEVKAAL 
GRALAMAEST EKHARLQAVM CIISTIMESC PSTSSFYSSA TAKTQHNGMN NIIRLFLKKG 
LVNDLARVPH SLDLSSPNMA NTVNAALKPL ETLSRIVNQP SSLFGSKSAS SKNKSEQDAQ 
GASQDSSSNQ QDPGEPGEAE VQEEDHDVTQ TEVADGDIMD GEAETDSVVI AGQPEVLSSQ 
EMQVENELED LIDELLERDG GSGNSTIIVS RSGEDESQED VLMDEAPSNL SQASTLQANR 
EDSMNILDPE DEEEHTQEED SSGSNEDEDD SQDEEEEEEE DEEDDQEDDE GEEGDEDDDD 
DGSEMELDED YPDMNASPLV RFERFDREDD LIIEFDNMFS SATDIPPSPG NIPTTHPLMV 
RHADHSSLTL GSGSSTTRLT QGIGRSQRTL RQLTANTGHT IHVHYPGNRQ PNPPLILQRL 
LGPSAAADIL QLSSSLPLQS RGRARLLVGN DDVHIIARSD DELLDDFFHD QSTATSQAGT 
LSSIPTALTR WTEECKVLDA ESMHDCVSVV KVSIVNHLEF LRDEELEERR EKRRKQLAEE 
ETKITDKGKE DKENRDQSAQ CTASKSNDST EQNLSDGTPM PDSYPTTPSS TDAATSESKE 
TLGTLQSSQQ QPTLPTPPAL GEVPQELQSP AGEGGSSTQL LMPVEPEELG PTRPSGEAET 
TQMELSPAPT ITSLSPERAE DSDALTAVSS QLEGSPMDTS SLASCTLEEA VGDTSAAGSS 
EQPRAGSSTP GDAPPAVAEV QGRSDGSGES AQPPEDSSPP ASSESSSTRD SAVAISGADS 
RGILEEPLPS TSSEEEDPLA GISLPEGVDP SFLAALPDDI RREVLQNQLG IRPPTRTAPS 
TNSSAPAVVG NPGVTEVSPE FLAALPPAIQ EEVLAQQRAE QQRRELAQNA SSDTPMDPVT 
FIQTLPSDLR RSVLEDMEDS VLAVMPPDIA AEAQALRREQ EARQRQLMHE RLFGHSSTSA 
LSAILRSPAF TSRLSGNRGV QYTRLAVQRG GTFQMGGSSS HNRPSGSNVD TLLRLRGRLL 
LDHEALSCLL VLLFVDEPKL NTSRLHRVLR NLCYHAQTRH WVIRSLLSIL QRSSESELCI 
ETPKLTTSEE KGKKSSKSCG SSSHENRPLD LLHKMESKSS NQLSWLSVSM DAALGCRTNI 
FQIQRSGGRK HTEKHASGGS TVHIHPQAAP VVCRHVLDTL IQLAKVFPSH FTQQRTKETN 
CESDRERGNK ACSPCSSQSS SSGICTDFWD LLVKLDNMNV SRKGKNSVKS VPVSAGGEGE 
TSPYSLEASP LGQLMNMLSH PVIRRSSLLT EKLLRLLSLI SIALPENKVS EAQANSGSGA 
SSTTTATSTT STTTTTAAST TPTPPTAPTP VTSAPALVAA TAISTIVVAA STTVTTPTTA 
TTTVSISPTT KGSKSPAKVS DGGSSSTDFK MVSSGLTENQ LQLSVEVLTS HSCSEEGLED 
AANVLLQLSR GDSGTRDTVL KLLLNGARHL GYTLCKQIGT LLAELREYNL EQQRRAQCET 
LSPDGLPEEQ PQTTKLKGKM QSRFDMAENV VIVASQKRPL GGRELQLPSM SMLTSKTSTQ 
KFFLRVLQVI IQLRDDTRRA NKKAKQTGRL GSSGLGSASS IQAAVRQLEA EADAIIQMVR 
EGQRARRQQQ AATSESSQSE ASVRREESPM DVDQPSPSAQ DTQSIASDGT PQGEKEKEER 
PPELPLLSEQ LSLDELWDML GECLKELEES HDQHAVLVLQ PAVEAFFLVH ATERESKPPV 
RDTRESQLAH IKDEPPPLSP APLTPATPSS LDPFFSREPS SMHISSSLPP DTQKFLRFAE 
THRTVLNQIL RQSTTHLADG PFAVLVDYIR VLDFDVKRKY FRQELERLDE GLRKEDMAVH 
VRRDHVFEDS YRELHRKSPE EMKNRLYIVF EGEEGQDAGG LLREWYMIIS REMFNPMYAL 
FRTSPGDRVT YTINPSSHCN PNHLSYFKFV GRIVAKAVYD NRLLECYFTR SFYKHILGKS 
VRYTDMESED YHFYQGLVYL LENDVSTLGY DLTFSTEVQE FGVCEVRDLK PNGANILVTE 
ENKKEYVHLV CQMRMTGAIR KQLAAFLEGF YEIIPKRLIS IFTEQELELL ISGLPTIDID 
DLKSNTEYHK YQSNSIQIQW FWRALRSFDQ ADRAKFLQFV TGTSKVPLQG FAALEGMNGI 
QKFQIHRDDR STDRLPSAHT CFNQLDLPAY ESFEKLRHML LLAIQECSEG FGLA

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.