Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ap2m1 | Rat | Autosomal Dominant Intellectual Developmental Disorder 60 | | ISO | AP2M1 (Homo sapiens) | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ap2m1 | Rat | Autosomal Dominant Intellectual Developmental Disorder 60 | | ISO | AP2M1 (Homo sapiens) | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Functional domain mapping of the clathrin-associated adaptor medium chains mu1 and mu2. | Aguilar RC, etal., J Biol Chem. 1997 Oct 24;272(43):27160-6. |
2. | The mu2 subunit of the clathrin adaptor AP-2 binds to FDNPVY and YppO sorting signals at distinct sites. | Boll W, etal., Traffic. 2002 Aug;3(8):590-600. |
3. | Molecular architecture and functional model of the endocytic AP2 complex. | Collins BM, etal., Cell. 2002 May 17;109(4):523-35. |
4. | Selective integrin endocytosis is driven by interactions between the integrin alpha-chain and AP2. | De Franceschi N, etal., Nat Struct Mol Biol. 2016 Feb;23(2):172-9. doi: 10.1038/nsmb.3161. Epub 2016 Jan 18. |
5. | 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. |
6. | A large-scale conformational change couples membrane recruitment to cargo binding in the AP2 clathrin adaptor complex. | Jackson LP, etal., Cell. 2010 Jun 25;141(7):1220-9. doi: 10.1016/j.cell.2010.05.006. |
7. | Molecular determinants for the interaction between AMPA receptors and the clathrin adaptor complex AP-2. | Kastning K, etal., Proc Natl Acad Sci U S A. 2007 Feb 20;104(8):2991-6. Epub 2007 Feb 8. |
8. | The phosphorylation of coated membrane proteins in intact neurons. | Keen JH and Black MM, J Cell Biol. 1986 Apr;102(4):1325-33. |
9. | Clathrin adaptors. AP2 controls clathrin polymerization with a membrane-activated switch. | Kelly BT, etal., Science. 2014 Jul 25;345(6195):459-63. doi: 10.1126/science.1254836. |
10. | A distributed set of interactions controls mu2 functionality in the role of AP-2 as a sorting adaptor in synaptic vesicle endocytosis. | Kim SH and Ryan TA, J Biol Chem. 2009 Nov 20;284(47):32803-12. doi: 10.1074/jbc.M109.039149. Epub 2009 Sep 17. |
11. | Synaptic vesicle recycling at CNS snapses without AP-2. | Kim SH and Ryan TA, J Neurosci. 2009 Mar 25;29(12):3865-74. doi: 10.1523/JNEUROSCI.5639-08.2009. |
12. | Phospho-dependent binding of the clathrin AP2 adaptor complex to GABAA receptors regulates the efficacy of inhibitory synaptic transmission. | Kittler JT, etal., Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14871-6. Epub 2005 Sep 28. |
13. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
14. | Genomic structure and chromosome mapping of the genes encoding clathrin-associated adaptor medium chains mu1A (Ap1m1) and mu1B (Ap1m2). | Nakatsu F, etal., Cytogenet Cell Genet 1999;87(1-2):53-8. |
15. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
16. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
17. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
18. | GOA pipeline | RGD automated data pipeline |
19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
20. | Identification of a non-canonical tyrosine-based endocytic motif in an ionotropic receptor. | Royle SJ, etal., J Biol Chem. 2002 Sep 20;277(38):35378-85. doi: 10.1074/jbc.M204844200. Epub 2002 Jul 8. |
21. | Synaptic vesicle endocytosis. | Saheki Y and De Camilli P, Cold Spring Harb Perspect Biol. 2012 Sep 1;4(9):a005645. doi: 10.1101/cshperspect.a005645. |
22. | Serine 331 and tyrosine 333 are both involved in the interaction between the cytosolic domain of TGN38 and the mu2 subunit of the AP2 clathrin adaptor complex. | Stephens DJ, etal., J Biol Chem. 1997 May 30;272(22):14104-9. |
23. | The synaptic vesicle cycle: a single vesicle budding step involving clathrin and dynamin. | Takei K, etal., J Cell Biol. 1996 Jun;133(6):1237-50. doi: 10.1083/jcb.133.6.1237. |
24. | Hidden proteome of synaptic vesicles in the mammalian brain. | Taoufiq Z, etal., Proc Natl Acad Sci U S A. 2020 Dec 29;117(52):33586-33596. doi: 10.1073/pnas.2011870117. Epub 2020 Dec 21. |
25. | Molecular cloning and complete amino acid sequence of AP50, an assembly protein associated with clathrin-coated vesicles. | Thurieau C, etal., DNA 1988 Dec;7(10):663-9. |
26. | Recognition of the tryptophan-based endocytosis signal in the neonatal Fc Receptor by the mu subunit of adaptor protein-2. | Wernick NL, etal., J Biol Chem. 2005 Feb 25;280(8):7309-16. doi: 10.1074/jbc.M410752200. Epub 2004 Dec 14. |
27. | Composition of isolated synaptic boutons reveals the amounts of vesicle trafficking proteins. | Wilhelm BG, etal., Science. 2014 May 30;344(6187):1023-8. doi: 10.1126/science.1252884. |
28. | Structural analysis of the interaction between Dishevelled2 and clathrin AP-2 adaptor, a critical step in noncanonical Wnt signaling. | Yu A, etal., Structure. 2010 Oct 13;18(10):1311-20. doi: 10.1016/j.str.2010.07.010. |
PMID:8918456 | PMID:9171339 | PMID:9812899 | PMID:10908605 | PMID:11247301 | PMID:12070130 | PMID:12234931 | PMID:12477932 | PMID:14651853 | PMID:14726597 | PMID:15489334 | PMID:15985462 |
PMID:18305175 | PMID:18321067 | PMID:19056867 | PMID:19581412 | PMID:21499258 | PMID:22262466 | PMID:22871113 | PMID:23529131 | PMID:23676497 | PMID:24217640 | PMID:25898166 | PMID:28139716 |
PMID:28755400 | PMID:29476059 | PMID:30053369 | PMID:31104773 | PMID:32357304 |
Ap2m1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP2M1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap2m1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap2m1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP2M1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP2M1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap2m1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP2M1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP2M1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap2m1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Ap2m1
57 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 |
RH128689 |
|
||||||||||||||||||||||||||||||||||||||||
AA874911 |
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_053837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_039087902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063270241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC110855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC087724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ213990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ234012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M23674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000058092 ⟹ ENSRNOP00000054900 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000088821 ⟹ ENSRNOP00000070202 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
Ensembl Acc Id: | ENSRNOT00000100870 ⟹ ENSRNOP00000079141 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_053837 ⟹ NP_446289 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_039087902 ⟹ XP_038943830 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_063270241 ⟹ XP_063126311 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_446289 | (Get FASTA) | NCBI Sequence Viewer |
XP_038943830 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063126311 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA72731 | (Get FASTA) | NCBI Sequence Viewer |
AAH87724 | (Get FASTA) | NCBI Sequence Viewer | |
EDL77997 | (Get FASTA) | NCBI Sequence Viewer | |
EDL77998 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000054900.5 | ||
ENSRNOP00000070202.1 | |||
ENSRNOP00000079141.1 | |||
ENSRNOP00055005873 | |||
ENSRNOP00060015872 | |||
ENSRNOP00065004397 | |||
GenBank Protein | P84092 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_446289 ⟸ NM_053837 |
- UniProtKB: | P84092 (UniProtKB/Swiss-Prot), A0A8I5ZME4 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000054900 ⟸ ENSRNOT00000058092 |
Ensembl Acc Id: | ENSRNOP00000070202 ⟸ ENSRNOT00000088821 |
RefSeq Acc Id: | XP_038943830 ⟸ XM_039087902 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A140TAH5 (UniProtKB/TrEMBL), A0A8I5ZME4 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSRNOP00000079141 ⟸ ENSRNOT00000100870 |
RefSeq Acc Id: | XP_063126311 ⟸ XM_063270241 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A6JSB0 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P84092-F1-model_v2 | AlphaFold | P84092 | 1-435 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698279 | ||||||||
Promoter ID: | EPDNEW_R8803 | ||||||||
Type: | single initiation site | ||||||||
Name: | Ap2m1_1 | ||||||||
Description: | adaptor-related protein complex 2, mu 1 subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | RGD:620135 | AgrOrtholog |
BioCyc Gene | G2FUF-20731 | BioCyc |
Ensembl Genes | ENSRNOG00000001709 | Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055004882 | UniProtKB/Swiss-Prot | |
ENSRNOG00060011929 | UniProtKB/Swiss-Prot | |
ENSRNOG00065004219 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000058092.5 | UniProtKB/TrEMBL |
ENSRNOT00000088821.2 | UniProtKB/Swiss-Prot | |
ENSRNOT00000100870.1 | UniProtKB/TrEMBL | |
ENSRNOT00055007791 | UniProtKB/Swiss-Prot | |
ENSRNOT00060020201 | UniProtKB/Swiss-Prot | |
ENSRNOT00065006162 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.450.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Mu homology domain, subdomain B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7320615 | IMAGE-MGC_LOAD |
InterPro | Adaptor_comp_med_subunit | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AP2_Mu_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AP2_Mu_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
AP_mu_sigma_su | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Clathrin_mu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Clathrin_mu_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Longin-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Mu2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:116563 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:105352 | IMAGE-MGC_LOAD |
NCBI Gene | 116563 | ENTREZGENE |
PANTHER | AP COMPLEX SUBUNIT MU | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AP-2 COMPLEX SUBUNIT MU | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Adap_comp_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Clat_adaptor_s | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Ap2m1 | PhenoGen |
PIRSF | Clathrin_mu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | CLATHRINADPT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | CLAT_ADAPTOR_M_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CLAT_ADAPTOR_M_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000001709 | RatGTEx |
ENSRNOG00055004882 | RatGTEx | |
ENSRNOG00060011929 | RatGTEx | |
ENSRNOG00065004219 | RatGTEx | |
Superfamily-SCOP | SSF49447 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF64356 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A140TAH5 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZME4 | ENTREZGENE, UniProtKB/TrEMBL | |
A6JSB0 | ENTREZGENE, UniProtKB/TrEMBL | |
AP2M1_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | P20172 | UniProtKB/Swiss-Prot |
P53679 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2018-05-03 | Ap2m1 | adaptor related protein complex 2 subunit mu 1 | Ap2m1 | adaptor-related protein complex 2, mu 1 subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-01-20 | Ap2m1 | adaptor-related protein complex 2, mu 1 subunit | Symbol and Name status set to approved | 1299863 | APPROVED | ||
2002-08-07 | Ap2m1 | adaptor-related protein complex 2, mu 1 subunit | Symbol and Name status set to provisional | 70820 | PROVISIONAL |