dync1h1 dynein, cytoplasmic 1, heavy chain 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dync1h1provided by ZNC
Official Full Name: dynein, cytoplasmic 1, heavy chain 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-7050
See related: AllianceGenome:ZFIN:ZDB-GENE-030131-7050
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: fk70a07; wu:fk70a07
Summary: Predicted to enable ATP binding activity and minus-end-directed microtubule motor activity. Acts upstream of or within with a positive effect on regulation of cell activation and regulation of microtubule cytoskeleton organization. Acts upstream of or within camera-type eye photoreceptor cell differentiation and central nervous system myelination. Predicted to be located in cytoplasm and microtubule. Predicted to be part of dynein complex. 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). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: partial on reference assembly
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 17

Exon count:: 73

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (871205..945956, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (1495431..1599371, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	Unplaced Scaffold	NW_008805500.1 (415..1080)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that basal body docking was unaffected in dynein 1 (dync1h1) mutation, but rab GTP-binding protein Rab6 expression was reduced.
Title: Mutations in the Dynein1 Complex are Permissible for Basal Body Migration in Photoreceptors but Alter Rab6 Localization.
dync1h1 promotes axon ensheathment and myelin gene expression.
Title: CNS myelination requires cytoplasmic dynein function.
This study provided evidence that Dync1h1 is also required for efficient myelination of peripheral axons by Schwann cells, perhaps by facilitating signal transduction necessary for myelination.
Title: Schwann cell myelination requires Dynein function.
These observations, combined with protein localization studies, suggest that Dynein1 may have direct and essential functions in photoreceptor outer segments, in addition to inner segment functions.
Title: Analysis of a zebrafish dync1h1 mutant reveals multiple functions for cytoplasmic dynein 1 during retinal photoreceptor development.

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General gene information

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Markers

G39037 (e-PCR)
- UniSTS:46595

G44933 (e-PCR)
- UniSTS:105735

z34756 (e-PCR), detects polymorphism
- UniSTS:238866

fj28g06.y1 (e-PCR)
- UniSTS:198965

G46802 (e-PCR)
- UniSTS:107598

Z1990 (e-PCR)
- UniSTS:54385

fa04c02.s1 (e-PCR)
- UniSTS:202191

fk70a07.x1 (e-PCR)
- UniSTS:201436

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables dynein intermediate chain binding	IEA Inferred from Electronic Annotation more info
enables dynein light intermediate chain binding	IEA Inferred from Electronic Annotation more info
enables minus-end-directed microtubule motor activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule-based movement	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect regulation of cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect regulation of microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dynein complex	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cytoplasmic dynein 1 heavy chain 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001042745.1 → NP_001036210.1 cytoplasmic dynein 1 heavy chain 1

See identical proteins and their annotated locations for NP_001036210.1

Status: PROVISIONAL

Source sequence(s)

DQ323903

UniProtKB/TrEMBL

Q2LEK1

Conserved Domains (8) summary

COG5245
Location:1045 → 4327

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam03028
Location:3921 → 4633

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:239 → 831

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1323 → 1721

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:3200 → 3531

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3560 → 3775

AAA_9; ATP-binding dynein motor region D5

cl02488
Location:1172 → 1349

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl21455
Location:1868 → 2104

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases