Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary sensory and autonomic neuropathy type 1A | | ISO | SPTLC1 (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 sensory and autonomic neuropathy type 1A | | ISO | SPTLC1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
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. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
7. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1317856 | PMID:9363775 | PMID:9405408 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12477932 | PMID:12782147 | PMID:14610273 | PMID:14681479 |
PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16210380 | PMID:16216550 | PMID:16602821 | PMID:16960033 | PMID:17967808 | PMID:18484747 | PMID:18515784 | PMID:18799693 | PMID:19416652 |
PMID:19923297 | PMID:20211931 | PMID:21267068 | PMID:21873635 | PMID:23096701 | PMID:24293640 | PMID:25269881 | PMID:25332431 | PMID:25602705 | PMID:25691431 | PMID:26301690 | PMID:27113764 |
PMID:28100772 | PMID:28378742 | PMID:30550785 | PMID:32554809 | PMID:34875719 | PMID:36197001 | PMID:37115925 |
Sptlc1 (Mus musculus - house mouse) |
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SPTLC1 (Homo sapiens - human) |
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Sptlc1 (Rattus norvegicus - Norway rat) |
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Sptlc1 (Chinchilla lanigera - long-tailed chinchilla) |
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SPTLC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SPTLC1 (Canis lupus familiaris - dog) |
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Sptlc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SPTLC1 (Sus scrofa - pig) |
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SPTLC1 (Chlorocebus sabaeus - green monkey) |
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Sptlc1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Sptlc1
1311 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 |
AW552086 |
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RH126236 |
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Sptlc1 |
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Sptlc1 |
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RefSeq Transcripts | NM_001426463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001426464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001426466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001426467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001426468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_009269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_189736 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_189737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC159201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF003823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK028713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK043064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK053207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK079578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK084391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK084445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK089030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK161140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK161811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK195391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC046323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X95641 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000021920 ⟹ ENSMUSP00000021920 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000221265 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000221709 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001426463 ⟹ NP_001413392 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001426464 ⟹ NP_001413393 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001426466 ⟹ NP_001413395 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001426467 ⟹ NP_001413396 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001426468 ⟹ NP_001413397 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_009269 ⟹ NP_033295 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_189736 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_189737 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001413392 | (Get FASTA) | NCBI Sequence Viewer |
NP_001413393 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001413395 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001413396 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001413397 | (Get FASTA) | NCBI Sequence Viewer | |
NP_033295 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC02264 | (Get FASTA) | NCBI Sequence Viewer |
AAH46323 | (Get FASTA) | NCBI Sequence Viewer | |
BAC35310 | (Get FASTA) | NCBI Sequence Viewer | |
BAC37690 | (Get FASTA) | NCBI Sequence Viewer | |
BAC39172 | (Get FASTA) | NCBI Sequence Viewer | |
BAC39185 | (Get FASTA) | NCBI Sequence Viewer | |
BAC40709 | (Get FASTA) | NCBI Sequence Viewer | |
BAE20444 | (Get FASTA) | NCBI Sequence Viewer | |
BAE20637 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36210 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36587 | (Get FASTA) | NCBI Sequence Viewer | |
CAA64897 | (Get FASTA) | NCBI Sequence Viewer | |
EDL41121 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000021920 | ||
ENSMUSP00000021920.7 | |||
GenBank Protein | O35704 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_033295 ⟸ NM_009269 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O54813 (UniProtKB/Swiss-Prot), Q8BH11 (UniProtKB/Swiss-Prot), O35704 (UniProtKB/Swiss-Prot), Q3TTW4 (UniProtKB/TrEMBL), Q3V3Z5 (UniProtKB/TrEMBL), Q8C295 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000021920 ⟸ ENSMUST00000021920 |
RefSeq Acc Id: | NP_001413392 ⟸ NM_001426463 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q3TTW4 (UniProtKB/TrEMBL), Q3V3Z5 (UniProtKB/TrEMBL), Q8C295 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001413393 ⟸ NM_001426464 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q3TTW4 (UniProtKB/TrEMBL), Q3V3Z5 (UniProtKB/TrEMBL), Q8C295 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001413395 ⟸ NM_001426466 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q3V3Z5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001413396 ⟸ NM_001426467 |
- Peptide Label: | isoform 5 |
- UniProtKB: | Q3TST8 (UniProtKB/TrEMBL), Q3V3A0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001413397 ⟸ NM_001426468 |
- Peptide Label: | isoform 6 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O35704-F1-model_v2 | AlphaFold | O35704 | 1-473 | view protein structure |
RGD ID: | 8680368 | ||||||||
Promoter ID: | EPDNEW_M18215 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Sptlc1_1 | ||||||||
Description: | Mus musculus serine palmitoyltransferase, long chain base subunit1 , 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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RGD ID: | 6824416 | ||||||||
Promoter ID: | MM_KWN:14157 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | ENSMUST00000021920 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1099431 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000021468 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENSMUST00000021920 | ENTREZGENE |
ENSMUST00000021920.8 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.640.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.90.1150.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Aminotransferase_I/II | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PyrdxlP-dep_Trfase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PyrdxlP-dep_Trfase_dom1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PyrdxlP-dep_Trfase_major | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:268656 | UniProtKB/Swiss-Prot |
MGD | MGI:1099431 | ENTREZGENE |
NCBI Gene | 268656 | ENTREZGENE |
PANTHER | CLASS II AMINOTRANSFERASE/8-AMINO-7-OXONONANOATE SYNTHASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SERINE PALMITOYLTRANSFERASE 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Aminotran_1_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Sptlc1 | PhenoGen |
Superfamily-SCOP | SSF53383 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | O35704 | ENTREZGENE |
O54813 | ENTREZGENE | |
Q3TST8 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3TTW4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3V3A0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q3V3Z5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8BH11 | ENTREZGENE | |
Q8C295 | ENTREZGENE, UniProtKB/TrEMBL | |
SPTC1_MOUSE | UniProtKB/Swiss-Prot | |
UniProt Secondary | O54813 | UniProtKB/Swiss-Prot |
Q8BH11 | UniProtKB/Swiss-Prot |