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 | | |
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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 | | |
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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. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
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 |
Ap4s1 (Rattus norvegicus - Norway rat) |
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AP4S1 (Homo sapiens - human) |
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Ap4s1 (Mus musculus - house mouse) |
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Ap4s1 (Chinchilla lanigera - long-tailed chinchilla) |
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AP4S1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AP4S1 (Canis lupus familiaris - dog) |
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Ap4s1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AP4S1 (Sus scrofa - pig) |
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AP4S1 (Chlorocebus sabaeus - green monkey) |
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Ap4s1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Ap4s1
272 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 |
BE107927 |
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RH138400 |
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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 | 3 | 33 | 12 | 12 | 11 | 12 | 8 | 11 | 74 | 24 | 31 | 11 | 8 |
Low | 10 | 45 | 29 | 8 | 29 | 11 | 10 | ||||||
Below cutoff |
RefSeq Transcripts | NM_001130999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001428792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_190496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063262180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063262181 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010052127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010052128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010052129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010052130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010052131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC158697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BE110150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ214180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ217797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000007887 ⟹ ENSRNOP00000007887 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000090716 ⟹ ENSRNOP00000072858 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001130999 ⟹ NP_001124471 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_063262180 ⟹ XP_063118250 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063262181 ⟹ XP_063118251 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010052127 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010052128 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010052129 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010052130 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010052131 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001124471 | (Get FASTA) | NCBI Sequence Viewer |
NP_001415721 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063118250 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063118251 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI58698 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000072858 | ||
ENSRNOP00000072858.2 |
RefSeq Acc Id: | NP_001124471 ⟸ NM_001130999 |
- UniProtKB: | A0A0G2K410 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000072858 ⟸ ENSRNOT00000090716 |
RefSeq Acc Id: | ENSRNOP00000007887 ⟸ ENSRNOT00000007887 |
RefSeq Acc Id: | XP_063118251 ⟸ XM_063262181 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B0BN62 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063118250 ⟸ XM_063262180 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F1M5X2-F1-model_v2 | AlphaFold | F1M5X2 | 1-144 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13694585 | ||||||||
Promoter ID: | EPDNEW_R5110 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Ap4s1_1 | ||||||||
Description: | adaptor-related protein complex 4, sigma 1 subunit | ||||||||
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 | RGD:1311990 | AgrOrtholog |
BioCyc Gene | G2FUF-37586 | BioCyc |
Ensembl Genes | ENSRNOG00000005765 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000090716 | ENTREZGENE |
ENSRNOT00000090716.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.450.60 | UniProtKB/TrEMBL |
InterPro | AP_complex_ssu | UniProtKB/TrEMBL |
AP_mu_sigma_su | UniProtKB/TrEMBL | |
Longin-like | UniProtKB/TrEMBL | |
KEGG Report | rno:366618 | UniProtKB/TrEMBL |
NCBI Gene | 366618 | ENTREZGENE |
PANTHER | AP-4 COMPLEX SUBUNIT SIGMA-1 | UniProtKB/TrEMBL |
PTHR11753 | UniProtKB/TrEMBL | |
Pfam | Clat_adaptor_s | UniProtKB/TrEMBL |
PhenoGen | Ap4s1 | PhenoGen |
PIRSF | AP_complex_sigma | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000005765 | RatGTEx |
Superfamily-SCOP | Longin_like | UniProtKB/TrEMBL |
UniProt | A0A0G2K410 | ENTREZGENE, UniProtKB/TrEMBL |
B0BN62 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2018-05-03 | Ap4s1 | adaptor related protein complex 4 subunit sigma 1 | Ap4s1 | adaptor-related protein complex 4, sigma 1 subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2012-07-13 | Ap4s1 | adaptor-related protein complex 4, sigma 1 subunit | Ap4s1 | adaptor-related protein complex AP-4, sigma 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Ap4s1 | adaptor-related protein complex AP-4, sigma 1 | Ap4s1_predicted | adaptor-related protein complex AP-4, sigma 1 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Ap4s1_predicted | adaptor-related protein complex AP-4, sigma 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |