Gene

dync1h1

ID

ZDB-GENE-030131-7050

Name

dynein, cytoplasmic 1, heavy chain 1

Symbol

dync1h1 Nomenclature History

Previous Names

fk70a07
wu:fk70a07

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to have ATP binding activity and microtubule motor activity. Involved in camera-type eye photoreceptor cell differentiation and central nervous system myelination. Predicted to localize to dynein complex. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2O; autosomal dominant non-syndromic intellectual disability 13; and spinal muscular atrophy with lower extremity predominance 1. Is expressed in eye photoreceptor cell; photoreceptor outer segment layer; and retinal photoreceptor layer. Orthologous to human DYNC1H1 (dynein cytoplasmic 1 heavy chain 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from Insinna et al., 2010

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 22 figures from 7 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dync1h1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant intellectual developmental disorder 13	Alliance	Cortical dysplasia, complex, with other brain malformations 13	614563
Charcot-Marie-Tooth disease axonal type 2O	Alliance	Charcot-Marie-Tooth disease, axonal, type 2O	614228
spinal muscular atrophy with lower extremity predominant 1	Alliance	Spinal muscular atrophy, lower extremity-predominant 1, AD	158600

Associated With dync1h1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR004273	Dynein heavy chain region D6 P-loop domain
Domain	IPR013594	Dynein heavy chain, tail
Domain	IPR013602	Dynein heavy chain, linker
Domain	IPR024317	Dynein heavy chain, AAA module D4
Domain	IPR024743	Dynein heavy chain, coiled coil stalk
Domain	IPR035699	Dynein heavy chain, hydrolytic ATP-binding dynein motor region
Domain	IPR035706	Dynein heavy chain, ATP-binding dynein motor region
Domain	IPR041228	Dynein heavy chain, C-terminal domain
Domain	IPR041466	Dynein heavy chain, AAA 5 extension domain
Domain	IPR041658	Dynein heavy chain AAA lid domain
Family	IPR026983	Dynein heavy chain
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR042219	Dynein heavy chain AAA lid domain superfamily
Homologous_superfamily	IPR042222	Dynein heavy chain, domain 2, N-terminal
Homologous_superfamily	IPR042228	Dynein heavy chain, linker, subdomain 3
Homologous_superfamily	IPR043157	Dynein heavy chain, AAA1 domain, small subdomain
Homologous_superfamily	IPR043160	Dynein heavy chain, C-terminal domain, barrel region

Domain Details Per Protein

Protein	Length	AAA+ ATPase domain	Dynein heavy chain	Dynein heavy chain, AAA1 domain, small subdomain	Dynein heavy chain, AAA 5 extension domain	Dynein heavy chain AAA lid domain	Dynein heavy chain AAA lid domain superfamily	Dynein heavy chain, AAA module D4	Dynein heavy chain, ATP-binding dynein motor region	Dynein heavy chain, coiled coil stalk	Dynein heavy chain, C-terminal domain	Dynein heavy chain, C-terminal domain, barrel region	Dynein heavy chain, domain 2, N-terminal	Dynein heavy chain, hydrolytic ATP-binding dynein motor region	Dynein heavy chain, linker	Dynein heavy chain, linker, subdomain 3	Dynein heavy chain region D6 P-loop domain	Dynein heavy chain, tail	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:E7F9N7 InterPro	4548
UniProtKB:A0A0G2L009 InterPro
UniProtKB:Q2LEK1 InterPro	4643

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-dync1h1	polyclonal	dync1h1	IgG	Rabbit	IHC	Proteintech	3
Ab3-dync1h1	polyclonal	dync1h1		Rabbit	IHC	Santa Cruz Biotechnology, Inc.	1
Ab1-dync1h1	polyclonal	dync1h1		Rabbit	IHC WB		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations