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
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 6 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 Intellectual developmental disorder, autosomal dominant 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 4548
UniProtKB:A0A0G2L009
UniProtKB:Q2LEK1 4643
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-dync1h1 polyclonal IgG Rabbit
  • IHC
Proteintech
3
Ab3-dync1h1 polyclonal Rabbit
  • IHC
Santa Cruz Biotechnology, Inc.
1
Ab1-dync1h1 polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations