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 site of double-strand break. Predicted to be active in chromatin and 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 (SNF2 related chromatin remodeling ATPase with DExD box 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smarcad1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
adermatoglyphia	Alliance	Adermatoglyphia	136000
BASAN syndrome	Alliance	Basan syndrome	129200
		Huriez syndrome	181600

Associated With smarcad1b Via Experimental Models

No data available

Gene Ontology

Protein Domains

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