Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Itch | Rat | Multisystem Autoimmune Disease with Facial Dysmorphism | | ISO | ITCH (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Itch | Rat | Multisystem Autoimmune Disease with Facial Dysmorphism | | ISO | ITCH (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | Regulation of NF-kappaB by ubiquitination. | Chen J and Chen ZJ, Curr Opin Immunol. 2013 Feb;25(1):4-12. doi: 10.1016/j.coi.2012.12.005. Epub 2013 Jan 8. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Deubiquitinases in the regulation of NF-kappaB signaling. | Harhaj EW and Dixit VM, Cell Res. 2011 Jan;21(1):22-39. doi: 10.1038/cr.2010.166. Epub 2010 Nov 30. |
| 4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | The itchy locus encodes a novel ubiquitin protein ligase that is disrupted in a18H mice. | Perry WL, etal., Nat Genet 1998 Feb;18(2):143-6. |
| 7. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 9. | GOA pipeline | RGD automated data pipeline |
| 10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| PMID:11555636 | PMID:14602072 | PMID:14973438 | PMID:15605377 | PMID:15678106 | PMID:17028573 | PMID:17137798 | PMID:17592138 | PMID:18246070 | PMID:18628966 | PMID:18718448 | PMID:19116316 |
| PMID:19592251 | PMID:19881509 | PMID:19946888 | PMID:20068034 | PMID:22871113 | PMID:23146885 | PMID:23533145 | PMID:23886940 | PMID:24790097 | PMID:25518932 | PMID:25631046 | PMID:26796253 |
| PMID:37306338 |
| Itch (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ITCH (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Itch (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Itch (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ITCH (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ITCH (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Itch (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ITCH (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ITCH (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Itch (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Itch (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Itch
1261 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001005887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008762336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC140696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AY600518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000078235 ⟹ ENSRNOP00000075116 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000105016 ⟹ ENSRNOP00000083747 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000106366 ⟹ ENSRNOP00000092387 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001005887 ⟹ NP_001005887 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_008762336 ⟹ XP_008760558 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
||||||||||||||||
| Sequence: |
| Protein RefSeqs | NP_001005887 | (Get FASTA) | NCBI Sequence Viewer |
| XP_008760558 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAT46068 | (Get FASTA) | NCBI Sequence Viewer |
| EDL85936 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000075116 | ||
| ENSRNOP00000075116.2 | |||
| ENSRNOP00000092387.1 |
| RefSeq Acc Id: | NP_001005887 ⟸ NM_001005887 |
| - UniProtKB: | A0A0G2K9T1 (UniProtKB/TrEMBL), A6KI19 (UniProtKB/TrEMBL), Q5YB86 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008760558 ⟸ XM_008762336 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2K9T1 (UniProtKB/TrEMBL), A6KI19 (UniProtKB/TrEMBL), Q5YB86 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000075116 ⟸ ENSRNOT00000078235 |
| Ensembl Acc Id: | ENSRNOP00000083747 ⟸ ENSRNOT00000105016 |
| Ensembl Acc Id: | ENSRNOP00000092387 ⟸ ENSRNOT00000106366 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A0G2K9T1-F1-model_v2 | AlphaFold | A0A0G2K9T1 | 1-882 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1359556 | AgrOrtholog |
| BioCyc Gene | G2FUF-47148 | BioCyc |
| Ensembl Genes | ENSRNOG00000059043 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000078235 | ENTREZGENE |
| ENSRNOT00000078235.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000106366.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.20.70.10 | UniProtKB/TrEMBL |
| 2.60.40.150 | UniProtKB/TrEMBL | |
| Hect, E3 ligase catalytic domain | UniProtKB/TrEMBL | |
| Hect, E3 ligase catalytic domain | UniProtKB/TrEMBL | |
| Hect, E3 ligase catalytic domains | UniProtKB/TrEMBL | |
| InterPro | C2_Ca-dep | UniProtKB/TrEMBL |
| C2_domain_sf | UniProtKB/TrEMBL | |
| E3_ub_ligase_SMURF1 | UniProtKB/TrEMBL | |
| E3_ubiq-protein_ligase | UniProtKB/TrEMBL | |
| HECT | UniProtKB/TrEMBL | |
| Hect_E3_ubiquitin_ligase | UniProtKB/TrEMBL | |
| WW_dom_sf | UniProtKB/TrEMBL | |
| WW_Rsp5_WWP | UniProtKB/TrEMBL | |
| KEGG Report | rno:311567 | UniProtKB/TrEMBL |
| NCBI Gene | 311567 | ENTREZGENE |
| PANTHER | E3 UBIQUITIN-PROTEIN LIGASE ITCHY HOMOLOG | UniProtKB/TrEMBL |
| HECT DOMAIN UBIQUITIN-PROTEIN LIGASE | UniProtKB/TrEMBL | |
| Pfam | HECT | UniProtKB/TrEMBL |
| PF00168 | UniProtKB/TrEMBL | |
| PF00397 | UniProtKB/TrEMBL | |
| PhenoGen | Itch | PhenoGen |
| PIRSF | E3_ub_ligase_SMURF1 | UniProtKB/TrEMBL |
| PROSITE | HECT | UniProtKB/TrEMBL |
| PS50004 | UniProtKB/TrEMBL | |
| WW_DOMAIN_1 | UniProtKB/TrEMBL | |
| WW_DOMAIN_2 | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000059043 | RatGTEx |
| SMART | HECTc | UniProtKB/TrEMBL |
| SM00239 | UniProtKB/TrEMBL | |
| SM00456 | UniProtKB/TrEMBL | |
| Superfamily-SCOP | HECT | UniProtKB/TrEMBL |
| SSF49562 | UniProtKB/TrEMBL | |
| WW_Rsp5_WWP | UniProtKB/TrEMBL | |
| UniProt | A0A0G2K9T1 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I6AVL7_RAT | UniProtKB/TrEMBL | |
| A6KI19 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q5YB86 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2012-07-18 | Itch | itchy E3 ubiquitin protein ligase | Itch | itchy E3 ubiquitin protein ligase homolog (mouse) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-11-06 | Itch | itchy E3 ubiquitin protein ligase homolog (mouse) | Itch | itchy, E3 ubiquitin protein ligase | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-03-04 | Itch | itchy, E3 ubiquitin protein ligase | Itch | itchy homolog E3 ubiquitin protein ligase (mouse) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Itch | itchy homolog E3 ubiquitin protein ligase (mouse) | itchy homolog E3 ubiquitin protein ligase | Name updated | 1299863 | APPROVED | |
| 2005-07-29 | Itch | itchy homolog E3 ubiquitin protein ligase | Symbol and Name status set to provisional | 70820 | PROVISIONAL |