Gene

ascc3

ID

ZDB-GENE-130214-2

Name

activating signal cointegrator 1 complex subunit 3

Symbol

ascc3 Nomenclature History

Previous Names

si:ch73-374j3.1
zmp:0000000854

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to enable 3'-5' DNA helicase activity; ATP hydrolysis activity; and RNA helicase activity. Predicted to be involved in DNA alkylation repair; rescue of stalled ribosome; and ribosome-associated ubiquitin-dependent protein catabolic process. Predicted to act upstream of or within DNA repair. Predicted to be located in cytosol and nucleus. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder. Orthologous to human ASCC3 (activating signal cointegrator 1 complex subunit 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

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

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa12811	Allele with one point mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa36013	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
sa39074	Allele with one point mutation	Unknown	Unknown	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)

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Sequence Targeting Reagents

No data available

Human Disease

Associated With ascc3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Intellectual developmental disorder, autosomal recessive 81	620700

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Associated With ascc3 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001650	Helicase, C-terminal domain-like
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR004179	Sec63 domain
Domain	IPR011545	DEAD/DEAH box helicase domain
Domain	IPR014001	Helicase superfamily 1/2, ATP-binding domain

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Domain Details Per Protein

Protein	Additional Resources	Length	AAA+ ATPase domain	C2 domain superfamily	DEAD/DEAH box helicase domain	Helicase, C-terminal domain-like	Helicase Hel308/SKI2-like	Helicase superfamily 1/2, ATP-binding domain	Immunoglobulin E-set	P-loop containing nucleoside triphosphate hydrolase	Sec63 domain	Winged helix DNA-binding domain superfamily	Winged helix-like DNA-binding domain superfamily
UniProtKB:E7F8F4	InterPro	1534
UniProtKB:A0A8M9PJR4	InterPro	2203

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 16

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	ascc3-201 (1) Ensembl	Ensembl		6,078 nt	Select Tool ZFIN BLAST
mRNA	ascc3-202 (1) Ensembl	Ensembl		893 nt	Select Tool ZFIN BLAST

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Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH73-374J3	CU468254	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_021466796 (1)	7361 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CU468254 (2)	102639 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A8M9PJR4 (1)	2203 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	ASCC3	6	Ensembl:ENSG00000112249 Gene:10973 HGNC:18697 OMIM:614217	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)
Mouse	Ascc3	10	Ensembl:ENSMUSG00000038774 Gene:77987 MGI:1925237	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)

Citations

Include unpublished citations

Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

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