Gene
smarcad1b
- ID
- ZDB-GENE-091113-61
- Name
- SNF2 related chromatin remodeling ATPase with DExD box 1b
- Symbol
- smarcad1b Nomenclature History
- Previous Names
-
- si:dkey-76p7.6
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Predicted to be involved in DNA double-strand break processing; heterochromatin formation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within DNA repair and chromatin organization. Predicted to be located in chromatin and site of double-strand break. Predicted to be active in nucleus. Is expressed in several structures, including brain; intermediate cell mass of mesoderm; optic vesicle; retina; and tail bud. Human ortholog(s) of this gene implicated in BASAN syndrome and adermatoglyphia. Orthologous to human SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- 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 |
|---|---|---|---|
| adermatoglyphia | Alliance | Adermatoglyphia | 136000 |
| BASAN syndrome | Alliance | Basan syndrome | 129200 |
| Huriez syndrome | 181600 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000330 | SNF2, N-terminal |
| Domain | IPR001650 | Helicase, C-terminal domain-like |
| Domain | IPR003892 | Ubiquitin system component CUE |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR049730 | SNF2/RAD5-like, C-terminal helicase domain |
| Homologous_superfamily | IPR009060 | UBA-like superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR038718 | SNF2-like, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain | UBA-like superfamily | Ubiquitin system component CUE |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F1C4 | InterPro | 954 | ||||||||
| UniProtKB:A0A8N7UVW1 | InterPro | 809 | ||||||||
| UniProtKB:A0A8M2B257 | InterPro | 955 | ||||||||
| UniProtKB:A0AB13A787 | InterPro | 954 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarcad1b-201
(1)
|
Ensembl | 3,464 nt | ||
| ncRNA |
smarcad1b-002
(1)
|
Ensembl | 598 nt |
Interactions and Pathways
No data available
Plasmids
No data available