Gene
sash1b
- ID
- ZDB-GENE-110228-1
- Name
- SAM and SH3 domain containing 1b
- Symbol
- sash1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human SASH1 (SAM and SH3 domain containing 1) and SAMD5 (sterile alpha motif domain containing 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
dyschromatosis universalis hereditaria | Alliance | Dyschromatosis universalis hereditaria 1 | 127500 |
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | 618373 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR001452 | SH3 domain |
Domain | IPR001660 | Sterile alpha motif domain |
Domain | IPR021090 | SLy proteins associated disordered region |
Domain | IPR035720 | SAM and SH3 domain-containing protein 1, SH3 domain |
Family | IPR051725 | SAM and SH3 domain-containing protein |
Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
Protein | Length | SAM and SH3 domain-containing protein | SAM and SH3 domain-containing protein 1, SH3 domain | SH3 domain | SH3-like domain superfamily | SLy proteins associated disordered region | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:E7FBN5
|
||||||||
UniProtKB:A0A8M6YT80
|
1022 | |||||||
UniProtKB:A0A8M9Q252
|
1021 | |||||||
UniProtKB:A0A8M9PNW4
|
1022 | |||||||
UniProtKB:A0A8M6YVQ4
|
1157 | |||||||
UniProtKB:A0A8M9Q6C4
|
922 | |||||||
UniProtKB:A0A8M6Z1N0
|
1021 | |||||||
UniProtKB:A0A8M9PCH1
|
1031 | |||||||
UniProtKB:A0A8M6Z2C1
|
1156 | |||||||
UniProtKB:A0A8M9PP34
|
1031 | |||||||
UniProtKB:A0A8M9Q247
|
1032 | |||||||
UniProtKB:A0A8M9PV69
|
923 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance