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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodevelopmental Disorders | | ISO | RGD:734098 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28191889 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Neurodevelopmental Disorders | | ISO | RGD:734098 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28191889 | |
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# | Reference Title | Reference Citation |
1. | 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. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | The postsynaptic density proteins Homer and Shank form a polymeric network structure. | Hayashi MK, etal., Cell. 2009 Apr 3;137(1):159-71. doi: 10.1016/j.cell.2009.01.050. |
4. | A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins. | Hirao K, etal., J Biol Chem 1998 Aug 14;273(33):21105-10. |
5. | Three isoforms of synaptic scaffolding molecule and their characterization. Multimerization between the isoforms and their interaction with N-methyl-D-aspartate receptors and SAP90/PSD-95-associated protein. | Hirao K, etal., J Biol Chem 2000 Jan 28;275(4):2966-72. |
6. | nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP). | Kawabe H, etal., J Biol Chem 1999 Oct 22;274(43):30914-8. |
7. | Differential expression of isoforms of PSD-95 binding protein (GKAP/SAPAP1) during rat brain development. | Kawashima N, etal., FEBS Lett 1997 Dec 1;418(3):301-4. |
8. | GKAP, a novel synaptic protein that interacts with the guanylate kinase-like domain of the PSD-95/SAP90 family of channel clustering molecules. | Kim E, etal., J Cell Biol 1997 Feb 10;136(3):669-78. |
9. | Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins. | Lim S, etal., Mol Cell Neurosci 2001 Feb;17(2):385-97. |
10. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
11. | GKAP-DLC2 interaction organizes the postsynaptic scaffold complex to enhance synaptic NMDA receptor activity. | Moutin E, etal., J Cell Sci. 2012 Apr 15;125(Pt 8):2030-40. doi: 10.1242/jcs.098160. Epub 2012 Feb 10. |
12. | Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. | Naisbitt S, etal., Neuron 1999 Jul;23(3):569-82. |
13. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
14. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
15. | MPP2 is a postsynaptic MAGUK scaffold protein that links SynCAM1 cell adhesion molecules to core components of the postsynaptic density. | Rademacher N, etal., Sci Rep. 2016 Oct 19;6:35283. doi: 10.1038/srep35283. |
16. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
17. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
18. | A functional role of postsynaptic density-95-guanylate kinase-associated protein complex in regulating Shank assembly and stability to synapses. | Romorini S, etal., J Neurosci. 2004 Oct 20;24(42):9391-404. |
19. | SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density. | Takeuchi M, etal., J Biol Chem 1997 May 2;272(18):11943-51. |
20. | Differential distribution of Shank and GKAP at the postsynaptic density. | Tao-Cheng JH, etal., PLoS One. 2015 Mar 16;10(3):e0118750. doi: 10.1371/journal.pone.0118750. eCollection 2015. |
21. | Synamon, a novel neuronal protein interacting with synapse-associated protein 90/postsynaptic density-95-associated protein. | Yao I, etal., J Biol Chem 1999 Sep 24;274(39):27463-6. |
PMID:9286858 | PMID:11122378 | PMID:12477932 | PMID:12626503 | PMID:15024750 | PMID:15358237 | PMID:15384421 | PMID:15673434 | PMID:15729360 | PMID:17114649 | PMID:20352094 | PMID:21558424 |
PMID:22761992 | PMID:22871113 | PMID:23143515 | PMID:25005096 | PMID:29476059 | PMID:30053369 |
Dlgap1 (Rattus norvegicus - Norway rat) |
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DLGAP1 (Homo sapiens - human) |
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Dlgap1 (Mus musculus - house mouse) |
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Dlgap1 (Chinchilla lanigera - long-tailed chinchilla) |
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DLGAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DLGAP1 (Canis lupus familiaris - dog) |
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Dlgap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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DLGAP1 (Sus scrofa - pig) |
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DLGAP1 (Chlorocebus sabaeus - green monkey) |
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Dlgap1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Dlgap1
3480 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 |
D9Rat48 |
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D9Got127 |
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D9Got220 |
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RH142992 |
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RH144687 |
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BF388187 |
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BE120950 |
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RH138004 |
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RH138110 |
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RH139942 |
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BE119986 |
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G47017 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 60 | 8 | 1 | ||||||||||
Low | 1 | 42 | 16 | 8 | 5 | 5 | 14 | 35 | 33 | 10 | 5 | ||
Below cutoff | 2 | 1 | 33 | 33 | 11 | 33 | 3 | 6 | 3 |
RefSeq Transcripts | NM_001304287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_022946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596628 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596631 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039084193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB003594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB005146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC141200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC092657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC107451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ212368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ212540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ212646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U67137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U67987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000022351 ⟹ ENSRNOP00000022351 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000087592 ⟹ ENSRNOP00000072852 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000090512 ⟹ ENSRNOP00000073938 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110426 ⟹ ENSRNOP00000084169 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000119591 ⟹ ENSRNOP00000090776 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001304287 ⟹ NP_001291216 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_022946 ⟹ NP_075235 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008767429 ⟹ XP_008765651 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008767430 ⟹ XP_008765652 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008767432 ⟹ XP_008765654 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008767433 ⟹ XP_008765655 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017596627 ⟹ XP_017452116 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017596628 ⟹ XP_017452117 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017596630 ⟹ XP_017452119 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017596631 ⟹ XP_017452120 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039084188 ⟹ XP_038940116 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039084189 ⟹ XP_038940117 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039084190 ⟹ XP_038940118 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039084191 ⟹ XP_038940119 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039084192 ⟹ XP_038940120 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039084193 ⟹ XP_038940121 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001291216 | (Get FASTA) | NCBI Sequence Viewer |
NP_075235 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008765651 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008765652 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008765654 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008765655 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017452116 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017452117 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017452119 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017452120 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940116 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940117 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940118 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940119 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940120 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038940121 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB48587 | (Get FASTA) | NCBI Sequence Viewer |
AAC53054 | (Get FASTA) | NCBI Sequence Viewer | |
BAA24265 | (Get FASTA) | NCBI Sequence Viewer | |
BAA24285 | (Get FASTA) | NCBI Sequence Viewer | |
EDL90933 | (Get FASTA) | NCBI Sequence Viewer | |
EDL90934 | (Get FASTA) | NCBI Sequence Viewer | |
EDL90935 | (Get FASTA) | NCBI Sequence Viewer | |
EDL90936 | (Get FASTA) | NCBI Sequence Viewer | |
P97836 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_075235 ⟸ NM_022946 |
- Peptide Label: | isoform 1 |
- UniProtKB: | G3V849 (UniProtKB/TrEMBL), A0A0G2K6T7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008765651 ⟸ XM_008767429 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_008765652 ⟸ XM_008767430 |
- Peptide Label: | isoform X6 |
- UniProtKB: | P97836 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_008765654 ⟸ XM_008767432 |
- Peptide Label: | isoform X7 |
- UniProtKB: | P97836 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_008765655 ⟸ XM_008767433 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | NP_001291216 ⟸ NM_001304287 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P97836 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_017452117 ⟸ XM_017596628 |
- Peptide Label: | isoform X1 |
- UniProtKB: | G3V849 (UniProtKB/TrEMBL), A0A0G2K6T7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017452116 ⟸ XM_017596627 |
- Peptide Label: | isoform X1 |
- UniProtKB: | G3V849 (UniProtKB/TrEMBL), A0A0G2K6T7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017452119 ⟸ XM_017596630 |
- Peptide Label: | isoform X2 |
- UniProtKB: | G3V849 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017452120 ⟸ XM_017596631 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000072852 ⟸ ENSRNOT00000087592 |
RefSeq Acc Id: | ENSRNOP00000073938 ⟸ ENSRNOT00000090512 |
RefSeq Acc Id: | ENSRNOP00000022351 ⟸ ENSRNOT00000022351 |
RefSeq Acc Id: | XP_038940118 ⟸ XM_039084190 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038940117 ⟸ XM_039084189 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0G2K6T7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038940116 ⟸ XM_039084188 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0G2K6T7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038940119 ⟸ XM_039084191 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038940120 ⟸ XM_039084192 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_038940121 ⟸ XM_039084193 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | ENSRNOP00000084169 ⟸ ENSRNOT00000110426 |
RefSeq Acc Id: | ENSRNOP00000090776 ⟸ ENSRNOT00000119591 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P97836-F1-model_v2 | AlphaFold | P97836 | 1-992 | 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:620223 | AgrOrtholog |
BioCyc Gene | G2FUF-26367 | BioCyc |
Ensembl Genes | ENSRNOG00000016196 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000022351 | ENTREZGENE |
ENSRNOP00000022351.8 | UniProtKB/TrEMBL | |
ENSRNOP00000072852 | ENTREZGENE | |
ENSRNOP00000072852.1 | UniProtKB/Swiss-Prot | |
ENSRNOP00000073938 | ENTREZGENE | |
ENSRNOP00000073938.1 | UniProtKB/TrEMBL | |
ENSRNOP00000084169 | ENTREZGENE | |
ENSRNOP00000084169.1 | UniProtKB/TrEMBL | |
ENSRNOP00000090776 | ENTREZGENE | |
ENSRNOP00000090776.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000022351 | ENTREZGENE |
ENSRNOT00000022351.8 | UniProtKB/TrEMBL | |
ENSRNOT00000087592 | ENTREZGENE | |
ENSRNOT00000087592.2 | UniProtKB/Swiss-Prot | |
ENSRNOT00000090512 | ENTREZGENE | |
ENSRNOT00000090512.2 | UniProtKB/TrEMBL | |
ENSRNOT00000110426 | ENTREZGENE | |
ENSRNOT00000110426.1 | UniProtKB/TrEMBL | |
ENSRNOT00000119591 | ENTREZGENE | |
ENSRNOT00000119591.1 | UniProtKB/TrEMBL | |
InterPro | SAPAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | rno:65040 | UniProtKB/Swiss-Prot |
NCBI Gene | 65040 | ENTREZGENE |
PANTHER | PTHR12353 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12353:SF7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | GKAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Dlgap1 | PhenoGen |
UniProt | A0A0G2K6T7 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZYB2_RAT | UniProtKB/TrEMBL | |
A0A8I6AE66_RAT | UniProtKB/TrEMBL | |
DLGP1_RAT | UniProtKB/Swiss-Prot | |
G3V849 | ENTREZGENE, UniProtKB/TrEMBL | |
P97836 | ENTREZGENE | |
UniProt Secondary | O54773 | UniProtKB/Swiss-Prot |
P97841 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-06-01 | Dlgap1 | DLG associated protein 1 | Dlgap1 | discs large homolog associated protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-01-27 | Dlgap1 | discs large homolog associated protein 1 | Dlgap1 | discs, large (Drosophila) homolog-associated protein 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Dlgap1 | discs, large (Drosophila) homolog-associated protein 1 | guanylate kinase associated protein | Name updated | 1299863 | APPROVED | |
2002-08-07 | Dlgap1 | guanylate kinase associated protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |