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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ap3d1 | Mouse | Hermansky-Pudlak syndrome | | ISO | AP3D1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ap3d1 | Mouse | Hermansky-Pudlak syndrome | | ISO | AP3D1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | MGDs mouse GO annotations | MGD data from the GO Consortium |
2. | MGD IEA | MGD IEA |
3. | Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints. | Puttagunta R, etal., Genome Res 2000 Sep;10(9):1369-80. |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1741163 | PMID:1912584 | PMID:2778559 | PMID:4448900 | PMID:6736600 | PMID:7851892 | PMID:8703134 | PMID:9151686 | PMID:9420263 | PMID:9545220 | PMID:9585243 | PMID:9697856 |
PMID:9714600 | PMID:10349636 | PMID:10446746 | PMID:10586974 | PMID:10922068 | PMID:11041359 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11520080 | PMID:11588176 | PMID:11591131 |
PMID:11700294 | PMID:11807095 | PMID:11988776 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:12647238 | PMID:12668055 | PMID:12808150 | PMID:14557411 | PMID:14610273 | PMID:15073168 |
PMID:15109702 | PMID:15489334 | PMID:15537701 | PMID:15782199 | PMID:15860731 | PMID:16141072 | PMID:16141073 | PMID:16162817 | PMID:16235133 | PMID:16452087 | PMID:16602821 | PMID:16760431 |
PMID:16788073 | PMID:17056716 | PMID:17287392 | PMID:17349999 | PMID:18554297 | PMID:19010779 | PMID:19144828 | PMID:19436707 | PMID:19631730 | PMID:20089890 | PMID:20664521 | PMID:20847273 |
PMID:21149569 | PMID:21267068 | PMID:21490207 | PMID:21873635 | PMID:21998198 | PMID:22423091 | PMID:22521722 | PMID:22650988 | PMID:23247405 | PMID:24086151 | PMID:24217640 | PMID:24449271 |
PMID:24457600 | PMID:25808614 | PMID:25917818 | PMID:26465331 | PMID:30240610 | PMID:30335684 | PMID:30550785 | PMID:31040226 | PMID:31268833 | PMID:32325033 | PMID:32581705 | PMID:34874227 |
PMID:36445457 | PMID:37142655 | PMID:37723322 | PMID:37812725 |
Ap3d1 (Mus musculus - house mouse) |
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AP3D1 (Homo sapiens - human) |
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Ap3d1 (Rattus norvegicus - Norway rat) |
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Ap3d1 (Chinchilla lanigera - long-tailed chinchilla) |
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AP3D1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AP3D1 (Canis lupus familiaris - dog) |
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Ap3d1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AP3D1 (Sus scrofa - pig) |
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AP3D1 (Chlorocebus sabaeus - green monkey) |
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Ap3d1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Ap3d1
742 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 |
RH124553 |
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Ap3d |
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RefSeq Transcripts | NM_001428354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_007460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030244850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_003948582 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB004305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC152410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH012499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH012500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK030627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK132564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK141789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK155518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK155825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK179425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK179595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK181312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK181516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK186052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK186188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK187588 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK187726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK199246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK205331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK208513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK210277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK210756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK215624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC022171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC037477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC048786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC114395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC115742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ131283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D83670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D83671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000020420 ⟹ ENSMUSP00000020420 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000218125 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000218610 ⟹ ENSMUSP00000151820 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000219253 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000219356 ⟹ ENSMUSP00000151355 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000219816 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000220183 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_007460 ⟹ NP_031486 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030244850 ⟹ XP_030100710 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155559 ⟹ XP_036011452 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_003948582 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001415283 | (Get FASTA) | NCBI Sequence Viewer |
NP_031486 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030100710 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011452 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH22171 | (Get FASTA) | NCBI Sequence Viewer |
AAH37477 | (Get FASTA) | NCBI Sequence Viewer | |
AAH48786 | (Get FASTA) | NCBI Sequence Viewer | |
AAH53066 | (Get FASTA) | NCBI Sequence Viewer | |
AAO40830 | (Get FASTA) | NCBI Sequence Viewer | |
AAO40831 | (Get FASTA) | NCBI Sequence Viewer | |
BAA24578 | (Get FASTA) | NCBI Sequence Viewer | |
BAE24834 | (Get FASTA) | NCBI Sequence Viewer | |
BAE33305 | (Get FASTA) | NCBI Sequence Viewer | |
BAE33449 | (Get FASTA) | NCBI Sequence Viewer | |
EDL31507 | (Get FASTA) | NCBI Sequence Viewer | |
EDL31508 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000020420 | ||
ENSMUSP00000020420.8 | |||
ENSMUSP00000151355.2 | |||
ENSMUSP00000151820.2 | |||
GenBank Protein | O54774 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_031486 ⟸ NM_007460 |
- UniProtKB: | O54774 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_030100710 ⟸ XM_030244850 |
- Peptide Label: | isoform X2 |
Ensembl Acc Id: | ENSMUSP00000151820 ⟸ ENSMUST00000218610 |
Ensembl Acc Id: | ENSMUSP00000020420 ⟸ ENSMUST00000020420 |
Ensembl Acc Id: | ENSMUSP00000151355 ⟸ ENSMUST00000219356 |
RefSeq Acc Id: | XP_036011452 ⟸ XM_036155559 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O54774-F1-model_v2 | AlphaFold | O54774 | 1-1199 | view protein structure |
RGD ID: | 6846688 | ||||||||
Promoter ID: | MM_ACW:5388 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | AP3D1.CSEP07, AP3D1.DSEP07, AP3D1.KSEP07, AP3D1.LSEP07-UNSPLICED | ||||||||
Position: |
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RGD ID: | 6846689 | ||||||||
Promoter ID: | MM_ACW:5389 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_4Hour, Brain, Lung, Spleen | ||||||||
Transcripts: | AP3D1.JSEP07-UNSPLICED | ||||||||
Position: |
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RGD ID: | 6846686 | ||||||||
Promoter ID: | MM_ACW:5390 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, Kidney, Lung | ||||||||
Transcripts: | AP3D1.BSEP07 | ||||||||
Position: |
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RGD ID: | 6846685 | ||||||||
Promoter ID: | MM_ACW:5391 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, Kidney | ||||||||
Transcripts: | AP3D1.HSEP07 | ||||||||
Position: |
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RGD ID: | 6848560 | ||||||||
Promoter ID: | MM_TRO:1054 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney, Liver | ||||||||
Transcripts: | MTR003168.10.1447.2 | ||||||||
Position: |
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RGD ID: | 6818989 | ||||||||
Promoter ID: | MM_KWN:4905 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, Spleen | ||||||||
Transcripts: | NM_007460 | ||||||||
Position: |
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RGD ID: | 8672698 | ||||||||
Promoter ID: | EPDNEW_M14380 | ||||||||
Type: | initiation region | ||||||||
Name: | Ap3d1_1 | ||||||||
Description: | Mus musculus adaptor-related protein complex 3, delta 1 subunit, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:107734 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000020198 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000020420 | ENTREZGENE |
ENSMUST00000020420.9 | UniProtKB/Swiss-Prot | |
ENSMUST00000218610.2 | UniProtKB/TrEMBL | |
ENSMUST00000219356.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Longin domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | AP3_complex_dsu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AP3D_dom_metazoa | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ARM-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ARM-type_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Clathrin/coatomer_adapt-like_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:11776 | UniProtKB/Swiss-Prot |
MGD | MGI:107734 | ENTREZGENE |
NCBI Gene | 11776 | ENTREZGENE |
PANTHER | AP-3 COMPLEX SUBUNIT DELTA-1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR22781 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Adaptin_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AP3D1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Ap3d1 | PhenoGen |
PIRSF | AP3_complex_delta | UniProtKB/TrEMBL |
SMART | BLVR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48371 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1W2P6Q6_MOUSE | UniProtKB/TrEMBL |
A0A1W2P7Z2_MOUSE | UniProtKB/TrEMBL | |
AP3D1_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q05CQ3_MOUSE | UniProtKB/TrEMBL | |
Q3U1P6_MOUSE | UniProtKB/TrEMBL | |
Q3U237_MOUSE | UniProtKB/TrEMBL | |
Q3UR54_MOUSE | UniProtKB/TrEMBL | |
Q80UA6_MOUSE | UniProtKB/TrEMBL | |
Q8CGH7_MOUSE | UniProtKB/TrEMBL |