Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Dyschromatosis Universalis Hereditaria 1 | | ISO | SASH1 (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) | Dyschromatosis Universalis Hereditaria 1 | | ISO | SASH1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | 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. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12520002 | PMID:12771949 | PMID:12819125 | PMID:14610273 | PMID:14621295 | PMID:15782199 | PMID:16137664 | PMID:16141072 | PMID:16141073 |
PMID:16452087 | PMID:18799693 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22794259 | PMID:22859403 | PMID:23776175 | PMID:31067462 | PMID:38355793 |
Sash1 (Mus musculus - house mouse) |
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SASH1 (Homo sapiens - human) |
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Sash1 (Rattus norvegicus - Norway rat) |
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Sash1 (Chinchilla lanigera - long-tailed chinchilla) |
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SASH1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SASH1 (Canis lupus familiaris - dog) |
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Sash1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SASH1 (Sus scrofa - pig) |
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SASH1 (Chlorocebus sabaeus - green monkey) |
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Sash1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Sash1
8594 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 |
D10Mit298 |
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RefSeq Transcripts | NM_175155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006512837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006512839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006512840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006512841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030245255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030245256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030245257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036155990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC091522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC153566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC153569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ507736 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK003151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK039638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK041048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK049453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK149872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK193372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK197316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY770549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ125950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000015449 ⟹ ENSMUSP00000015449 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000212553 ⟹ ENSMUSP00000148656 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000212869 ⟹ ENSMUSP00000148780 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000213032 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_175155 ⟹ NP_780364 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006512837 ⟹ XP_006512900 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006512839 ⟹ XP_006512902 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006512840 ⟹ XP_006512903 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006512841 ⟹ XP_006512904 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030245255 ⟹ XP_030101115 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030245256 ⟹ XP_030101116 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030245257 ⟹ XP_030101117 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155989 ⟹ XP_036011882 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036155990 ⟹ XP_036011883 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_780364 | (Get FASTA) | NCBI Sequence Viewer |
XP_006512900 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006512902 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006512903 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006512904 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030101115 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030101116 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030101117 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011882 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036011883 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAC25318 | (Get FASTA) | NCBI Sequence Viewer |
BAC30797 | (Get FASTA) | NCBI Sequence Viewer | |
BAC98026 | (Get FASTA) | NCBI Sequence Viewer | |
CAD47812 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000015449 | ||
ENSMUSP00000015449.6 | |||
ENSMUSP00000148656.2 | |||
ENSMUSP00000148780.2 | |||
GenBank Protein | P59808 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_780364 ⟸ NM_175155 |
- UniProtKB: | P59808 (UniProtKB/Swiss-Prot), F8VQK5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006512900 ⟸ XM_006512837 |
- Peptide Label: | isoform X4 |
- UniProtKB: | P59808 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006512903 ⟸ XM_006512840 |
- Peptide Label: | isoform X8 |
- UniProtKB: | Q6ZQ46 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006512902 ⟸ XM_006512839 |
- Peptide Label: | isoform X7 |
- UniProtKB: | Q6ZQ46 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006512904 ⟸ XM_006512841 |
- Peptide Label: | isoform X5 |
- UniProtKB: | Q6ZQ46 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_030101116 ⟸ XM_030245256 |
- Peptide Label: | isoform X2 |
- UniProtKB: | P59808 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030101115 ⟸ XM_030245255 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P59808 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_030101117 ⟸ XM_030245257 |
- Peptide Label: | isoform X6 |
- UniProtKB: | Q6ZQ46 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000015449 ⟸ ENSMUST00000015449 |
RefSeq Acc Id: | ENSMUSP00000148656 ⟸ ENSMUST00000212553 |
RefSeq Acc Id: | ENSMUSP00000148780 ⟸ ENSMUST00000212869 |
RefSeq Acc Id: | XP_036011882 ⟸ XM_036155989 |
- Peptide Label: | isoform X3 |
- UniProtKB: | P59808 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_036011883 ⟸ XM_036155990 |
- Peptide Label: | isoform X9 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P59808-F1-model_v2 | AlphaFold | P59808 | 1-1230 | view protein structure |
RGD ID: | 6848577 | ||||||||
Promoter ID: | MM_TRO:763 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour | ||||||||
Transcripts: | MTR019212.10.92.4 | ||||||||
Position: |
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RGD ID: | 6819880 | ||||||||
Promoter ID: | MM_KWN:3508 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day2, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6 | ||||||||
Transcripts: | NM_175155, UC007EIV.1 | ||||||||
Position: |
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RGD ID: | 8671472 | ||||||||
Promoter ID: | EPDNEW_M13767 | ||||||||
Type: | initiation region | ||||||||
Name: | Sash1_1 | ||||||||
Description: | Mus musculus SAM and SH3 domain containing 1 , 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:1917347 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000015305 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000015449 | ENTREZGENE |
ENSMUST00000015449.6 | UniProtKB/TrEMBL | |
ENSMUST00000212553.2 | UniProtKB/TrEMBL | |
ENSMUST00000212869.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.150.50 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 Domains | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | rSAM/SH3_domain-containing | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SAM/pointed_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SASH1_SAM_repeat1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SASH1_SAM_repeat2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SASH1_SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:70097 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:1917347 | ENTREZGENE |
NCBI Gene | 70097 | ENTREZGENE |
PANTHER | SAM AND SH3 DOMAIN-CONTAINING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SAM-DOMAIN, SH3 AND NUCLEAR LOCALIZATION SIGNALS PROTEIN RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | SAM_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SAM_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SH3_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SLY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Sash1 | PhenoGen |
PROSITE | SAM_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | SAM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SH3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF47769 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF50044 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A1D5RM71_MOUSE | UniProtKB/TrEMBL |
A0A1D5RMH4_MOUSE | UniProtKB/TrEMBL | |
F8VQK5 | ENTREZGENE, UniProtKB/TrEMBL | |
P59808 | ENTREZGENE | |
Q6ZQ46 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8BRY6_MOUSE | UniProtKB/TrEMBL | |
SASH1_MOUSE | UniProtKB/Swiss-Prot |