Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary spastic paraplegia 52 | | ISO | AP4S1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary spastic paraplegia 52 | | ISO | AP4S1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
3. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:9714600 | PMID:10066790 | PMID:10349636 | PMID:10436028 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11544199 | PMID:12477932 | PMID:14610273 | PMID:15489334 |
PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:17062627 | PMID:17967808 | PMID:18799693 | PMID:18973680 | PMID:21267068 | PMID:21620353 | PMID:21677750 | PMID:21873635 | PMID:23897027 |
PMID:24065543 | PMID:24975939 | PMID:25552650 | PMID:28413018 | PMID:32968282 |
Ap4s1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP4S1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap4s1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap4s1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP4S1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP4S1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap4s1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP4S1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AP4S1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ap4s1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Ap4s1
2648 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 |
D12Mit237 |
|
||||||||||||||||||||||||||||||||||||||||
AI314282 |
|
RefSeq Transcripts | NM_001329698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001329699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_021710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006515433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036157170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC159644 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF092093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI847561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK005283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK178071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP426557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CD551689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000021338 ⟹ ENSMUSP00000021338 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSMUST00000218820 ⟹ ENSMUSP00000151472 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | NM_001329698 ⟹ NP_001316627 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001329699 ⟹ NP_001316628 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_021710 ⟹ NP_068356 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006515433 ⟹ XP_006515496 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_036157170 ⟹ XP_036013063 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
Protein RefSeqs | NP_001316627 | (Get FASTA) | NCBI Sequence Viewer |
NP_001316628 | (Get FASTA) | NCBI Sequence Viewer | |
NP_068356 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006515496 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036013063 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD20447 | (Get FASTA) | NCBI Sequence Viewer |
AAH01985 | (Get FASTA) | NCBI Sequence Viewer | |
AAH53339 | (Get FASTA) | NCBI Sequence Viewer | |
BAB23931 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36777 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36778 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000021338 | ||
ENSMUSP00000021338.9 | |||
ENSMUSP00000151472 | |||
ENSMUSP00000151472.2 | |||
GenBank Protein | Q9WVL1 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_068356 ⟸ NM_021710 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9WVL1 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006515496 ⟸ XM_006515433 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001316627 ⟸ NM_001329698 |
- Peptide Label: | isoform 1 |
RefSeq Acc Id: | NP_001316628 ⟸ NM_001329699 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A1W2P708 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000151472 ⟸ ENSMUST00000218820 |
RefSeq Acc Id: | ENSMUSP00000021338 ⟸ ENSMUST00000021338 |
RefSeq Acc Id: | XP_036013063 ⟸ XM_036157170 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9WVL1-F1-model_v2 | AlphaFold | Q9WVL1 | 1-144 | view protein structure |
RGD ID: | 8678242 | ||||||||
Promoter ID: | EPDNEW_M17152 | ||||||||
Type: | initiation region | ||||||||
Name: | Ap4s1_2 | ||||||||
Description: | Mus musculus adaptor-related protein complex AP-4, sigma 1 ,transcript variant 2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M17153 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 8678244 | ||||||||
Promoter ID: | EPDNEW_M17153 | ||||||||
Type: | single initiation site | ||||||||
Name: | Ap4s1_1 | ||||||||
Description: | Mus musculus adaptor-related protein complex AP-4, sigma 1 ,transcript variant 2, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_M17152 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6822725 | ||||||||
Promoter ID: | MM_KWN:11612 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day3, BoneMarrow_0Hour, BoneMarrow_2Hour, ES_Cell, Kidney, Lung, MEF_B4, Spleen | ||||||||
Transcripts: | NM_021710, UC007NMW.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | MGI:1337065 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000020955 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000021338 | ENTREZGENE |
ENSMUST00000021338.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000218820 | ENTREZGENE | |
ENSMUST00000218820.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.450.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | AP_complex_ssu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AP_mu_sigma_su | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Longin-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:11782 | UniProtKB/Swiss-Prot |
MGD | MGI:1337065 | ENTREZGENE |
NCBI Gene | 11782 | ENTREZGENE |
PANTHER | ADAPTOR RELATED PROTEIN COMPLEX 4 SUBUNIT SIGMA 1 | UniProtKB/TrEMBL |
AP-4 COMPLEX SUBUNIT SIGMA-1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTHR11753 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Clat_adaptor_s | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Ap4s1 | PhenoGen |
PIRSF | AP_complex_sigma | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF64356 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1W2P708 | ENTREZGENE, UniProtKB/TrEMBL |
AP4S1_MOUSE | UniProtKB/Swiss-Prot | |
Q99M60_MOUSE | UniProtKB/TrEMBL | |
Q9WVL1 | ENTREZGENE |