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 ATP-dependent microtubule motor activity, minus-end-directed. Involved in camera-type eye photoreceptor cell differentiation and central nervous system myelination. Predicted to localize to cytoplasm; dynein complex; and microtubule. Is expressed in eye photoreceptor cell; photoreceptor outer segment layer; and retinal photoreceptor layer. 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. 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
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 non-syndromic intellectual disability 13 Alliance Mental retardation, autosomal dominant 13 614563
Charcot-Marie-Tooth disease axonal type 2O Alliance Charcot-Marie-Tooth disease, axonal, type 20 614228
spinal muscular atrophy with lower extremity predominance 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, domain-1
Domain IPR013602 Dynein heavy chain, domain-2
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, domain 2, C-terminal
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-1 Dynein heavy chain, domain-2 Dynein heavy chain, domain 2, C-terminal Dynein heavy chain, domain 2, N-terminal Dynein heavy chain, hydrolytic ATP-binding dynein motor region Dynein heavy chain region D6 P-loop domain 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