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 | | |
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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 | | |
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# | 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) |
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ITCH (Homo sapiens - human) |
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Itch (Mus musculus - house mouse) |
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Itch (Chinchilla lanigera - long-tailed chinchilla) |
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ITCH (Pan paniscus - bonobo/pygmy chimpanzee) |
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ITCH (Canis lupus familiaris - dog) |
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Itch (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ITCH (Sus scrofa - pig) |
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ITCH (Chlorocebus sabaeus - green monkey) |
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Itch (Heterocephalus glaber - naked mole-rat) |
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Variants in Itch
319 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
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
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: |
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Ensembl Acc Id: | ENSRNOT00000105016 ⟹ ENSRNOP00000083747 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000106366 ⟹ ENSRNOP00000092387 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001005887 ⟹ NP_001005887 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008762336 ⟹ XP_008760558 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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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 | ENSRNOP00000075116.2 | ||
ENSRNOP00000083747.1 | |||
ENSRNOP00000092387.1 |
RefSeq Acc Id: | NP_001005887 ⟸ NM_001005887 |
- UniProtKB: | A0A0G2K9T1 (UniProtKB/TrEMBL), A6KI19 (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, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000078235.2 | UniProtKB/TrEMBL |
ENSRNOT00000105016.1 | UniProtKB/TrEMBL | |
ENSRNOT00000106366.1 | 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 |
A0A8I5ZZU1_RAT | 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 |
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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 |