Gene
sash1a
- ID
- ZDB-GENE-030131-9960
- Name
- SAM and SH3 domain containing 1a
- Symbol
- sash1a Nomenclature History
- Previous Names
-
- fi33a01
- ik:tdsubc_2e1
- si:dkey-264g21.1
- tdsubc_2e1
- wu:fi33a01 (1)
- xx:tdsubc_2e1
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Is expressed in forebrain; hindbrain; and midbrain. Orthologous to human SASH1 (SAM and SH3 domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Zhou et al., 2023
- 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 |
| Domain | IPR037627 | SASH1, SAM domain repeat 1 |
| Domain | IPR037630 | SASH1, SAM domain repeat 2 |
| 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 | SASH1, SAM domain repeat 1 | SASH1, SAM domain repeat 2 | SH3 domain | SH3-like domain superfamily | SLy proteins associated disordered region | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5TZ33
|
1192 | |||||||||
|
UniProtKB:A0A8M9PPD1
|
1304 | |||||||||
|
UniProtKB:A0A8M9PSQ8
|
1326 | |||||||||
|
UniProtKB:A0A8M9P2L4
|
1471 | |||||||||
|
UniProtKB:A0A8M9PHC0
|
1338 | |||||||||
|
UniProtKB:A0A8M9PBR7
|
1371 | |||||||||
|
UniProtKB:A0A8M9PPC5
|
1505 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sash1a-201
(1)
|
Ensembl | 7,137 nt | ||
| mRNA |
sash1a-202
(1)
|
Ensembl | 495 nt | ||
| mRNA |
sash1a-203
(1)
|
Ensembl | 3,742 nt | ||
| mRNA |
sash1a-204
(1)
|
Ensembl | 780 nt | ||
| mRNA |
sash1a-205
(1)
|
Ensembl | 718 nt |
Interactions and Pathways
No data available
Plasmids
No data available