Dync1h1 MGI Mouse Gene Detail - MGI:103147 - dynein cytoplasmic 1 heavy chain 1

Symbol

Dync1h1
Name

dynein cytoplasmic 1 heavy chain 1
Synonyms

9930018I23Rik, Dnchc1, Dnec1, dynein heavy chain, retrograde transport, Loa, MAP1C, mKIAA0325, Swl

Feature Type

protein coding gene
IDs

MGI:103147
NCBI Gene: 13424
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr12:110567886-110633379 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 60.70 cM
Mapping Data

8 experiments

SNPs within 2kb

1926 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103147	protein coding gene	Chr12:110567829-110633379 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020118	protein coding gene	Chr12:112908033-112982386 (+)
A/J	MGP_AJ_G0020072	protein coding gene	Chr12:108526746-108592350 (+)
AKR/J	MGP_AKRJ_G0020048	protein coding gene	Chr12:111706041-111775440 (+)
BALB/cJ	MGP_BALBcJ_G0020058	protein coding gene	Chr12:109011554-109077321 (+)
C3H/HeJ	MGP_C3HHeJ_G0019860	protein coding gene	Chr12:112156594-112230280 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020503	protein coding gene	Chr12:116354448-116426264 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018115	protein coding gene	Chr12:105042063-105107814 (+)
CAST/EiJ	MGP_CASTEiJ_G0019401	protein coding gene	Chr12:107055244-107110852 (+)
CBA/J	MGP_CBAJ_G0019827	protein coding gene	Chr12:120898983-120976646 (+)
DBA/2J	MGP_DBA2J_G0019944	protein coding gene	Chr12:108076193-108142048 (+)
FVB/NJ	MGP_FVBNJ_G0019929	protein coding gene	Chr12:106872380-106938670 (+)
LP/J	MGP_LPJ_G0020019	protein coding gene	Chr12:112743490-112811682 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019967	protein coding gene	Chr12:124027992-124099367 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020532	protein coding gene	Chr12:111194677-111265404 (+)
PWK/PhJ	MGP_PWKPhJ_G0019161	protein coding gene	Chr12:102697801-102766549 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018965	protein coding gene	Chr12:105360287-105430716 (+)
WSB/EiJ	MGP_WSBEiJ_G0019459	protein coding gene	Chr12:112103120-112171922 (+)

Human Ortholog

DYNC1H1, dynein cytoplasmic 1 heavy chain 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DYNC1H1, dynein cytoplasmic 1 heavy chain 1
Synonyms

CDCBM13, CMT2O, DHC1, DHC1a, DNCH1, Dnchc1, DNCL, DNECL, DYHC, HL-3, p22, SMALED1
Links

HGNC:2961

NCBI Gene ID: 1778

neXtProt AC: NX_Q14204

UniProt: Q14204
Chr Location

14q32.31; chr14:101964573-102056443 (+) GRCh38

MGI Vertebrate Homology

Dync1h1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DYNC1H1
Gene Tree

Dync1h1

Diseases

1 with Dync1h1 mouse models; 3 with human DYNC1H1 associations

Human Disease

Mouse Models

Charcot-Marie-Tooth disease axonal type 2O

IDs

View 1 model

autosomal dominant intellectual developmental disorder 13

IDs

spinal muscular atrophy with lower extremity predominant 1

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

49 phenotypes from 9 alleles in 10 genetic backgrounds
7 phenotypes from multigenic genotypes
50 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

22
Chemically induced (ENU)

2
Endonuclease-mediated

2
Gene trapped

9
Radiation induced

1
Targeted

7
Transgenic

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

195 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms. Homozygosity for the p.K3334N mutation is embryonic lethal. Heterozygosity affects cerebral cortex cell proliferation and migration and leads to small body and brain size, abnormal locomotion and early death.

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All GO Annotations

47
GO References

14

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

846
Tissues

41
cDNA Data

425
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dync1h1

ZFIN dync1h1

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All Sequences

53
RefSeq

2
UniProt

8
CCDS

CCDS36559.1

Ensembl

ENSMUSG00000018707 (Evidence)
NCBI Gene

13424

			Length	Strain/Species	Flank
genomic	ENSMUSG00000018707	Ensembl Gene Model \| MGI Sequence Detail	65494	C57BL/6J	± kb
transcript	ENSMUST00000018851	Ensembl \| MGI Sequence Detail	14342	Not Applicable
polypeptide	ENSMUSP00000018851	Ensembl \| MGI Sequence Detail	4644	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000006770 cytoplasmic dynein 1 heavy chain 1

(term hierarchy)
PDB

3ERR, 3J1T, 3J1U, 3WUQ, 5AYH, 6RZA, 6RZB
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR026983 Dynein heavy chain

IPR043157 Dynein heavy chain, AAA1 domain, small subdomain

IPR041466 Dynein heavy chain, AAA 5 extension domain

IPR041658 Dynein heavy chain AAA lid domain

IPR042219 Dynein heavy chain AAA lid domain superfamily

IPR024317 Dynein heavy chain, AAA module D4

IPR035706 Dynein heavy chain, ATP-binding dynein motor region

IPR024743 Dynein heavy chain, coiled coil stalk

IPR041228 Dynein heavy chain, C-terminal domain

IPR043160 Dynein heavy chain, C-terminal domain, barrel region

IPR042222 Dynein heavy chain, domain 2, N-terminal

IPR035699 Dynein heavy chain, hydrolytic ATP-binding dynein motor region

IPR013602 Dynein heavy chain, linker

IPR042228 Dynein heavy chain, linker, subdomain 3

IPR004273 Dynein heavy chain region D6 P-loop domain

IPR013594 Dynein heavy chain, tail

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q9JHU4 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)

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All nucleic 434

cDNA 430

Primer pair 3

Other 1

Microarray probesets 3

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MGD-MRK-14670, MGD-MRK-24013, MGD-MRK-8874, MGI:1891075, MGI:2144918, MGI:2442954, MGI:98455

Summaries

All 118

Developmental Gene Expression 12

Diseases 1

Gene Ontology 14

Phenotypes 50
Earliest

J:130870 Duchen LW, A dominant hereditary sensory disorder in the mouse with deficiency of muscle spindles: the mutant Sprawling. J Physiol. 1974 Mar;237(2):10P-11P
Latest

J:345844 Guo Y, et al., Docking protein 6 (DOK6) selectively docks the neurotrophic signaling transduction to restrain peripheral neuropathy. Signal Transduct Target Ther. 2024 Feb 14;9(1):32

TSS for Dync1h1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr115219	Chr12:110567820-110567831 (+)	-60 bp
Tssr115220	Chr12:110567873-110567884 (+)	-7 bp
Tssr115221	Chr12:110567893-110567911 (+)	16 bp
Tssr115222	Chr12:110567921-110567932 (+)	41 bp
Tssr115223	Chr12:110575778-110575795 (+)	7,901 bp
Tssr115224	Chr12:110581901-110581903 (+)	14,016 bp
Tssr115225	Chr12:110594673-110594689 (+)	26,795 bp
Tssr115226	Chr12:110595205-110595225 (+)	27,329 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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