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Dnah1 Gene Detail
Summary
  • Symbol
    Dnah1
  • Name
    dynein, axonemal, heavy chain 1
  • Synonyms
    B230373P09Rik, Dnahc1, E030034C22Rik, ferf1, G1-415-19, MDHC7
  • Feature Type
    protein coding gene
  • IDs
    MGI:107721
    NCBI Gene: 110084
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:30982332-31045853 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, Syntenic
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    435 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107721
 protein coding gene Chr14:30982332-31045926 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021126
 protein coding gene Chr14:24436424-24502349 (-)
A/J MGP_AJ_G0021074
 protein coding gene Chr14:23513944-23577382 (-)
AKR/J MGP_AKRJ_G0021051
 protein coding gene Chr14:24637901-24701537 (-)
BALB/cJ MGP_BALBcJ_G0021078
 protein coding gene Chr14:23639030-23703233 (-)
C3H/HeJ MGP_C3HHeJ_G0020861
 protein coding gene Chr14:24509198-24572478 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021510
 protein coding gene Chr14:25404174-25467219 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019073
 protein coding gene Chr14:23579335-23649569 (-)
CAST/EiJ MGP_CASTEiJ_G0020386
 protein coding gene Chr14:24274268-24337098 (-)
CBA/J MGP_CBAJ_G0020828
 protein coding gene Chr14:26376646-26439934 (-)
DBA/2J MGP_DBA2J_G0020950
 protein coding gene Chr14:23544293-23607664 (-)
FVB/NJ MGP_FVBNJ_G0020934
 protein coding gene Chr14:23506612-23570033 (-)
LP/J MGP_LPJ_G0021019
 protein coding gene Chr14:24764592-24830326 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020960
 protein coding gene Chr14:25641792-25705011 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021543
 protein coding gene Chr14:24399054-24463052 (-)
PWK/PhJ MGP_PWKPhJ_G0020134
 protein coding gene Chr14:23002810-23067688 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019958
 protein coding gene Chr14:23997704-24066611 (-)
WSB/EiJ MGP_WSBEiJ_G0020441
 protein coding gene Chr14:24461856-24526387 (-)



Homology
more
  • Human Ortholog
    DNAH1, dynein axonemal heavy chain 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DNAH1, dynein axonemal heavy chain 1
  • Synonyms
    CILD37, DNAHC1, HDHC7, HL11, HL-11, HSRF-1, SPGF18, XLHSRF-1
  • Links
    NCBI Gene ID: 25981
    neXtProt AC: NX_Q9P2D7
    UniProt: Q9P2D7

  • Chr Location
    3p21.1; chr3:52310920-52400492 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human DNAH1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotype references
Phenotype Overview

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.
Homozygous null mice show male sterility, asthenospermia, and reduced beat frequency in tracheal cilia. Males homozygous for an ENU-induced mutation are sterile with abnormal sperm clumping behavior, asthenospermia, low in vitro fertilization rate, and impaired sperm penetration of zona pellucida.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    7
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
    751
  • Tissues
    3
  • cDNA Data
    16
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019027 Ensembl Gene Model | MGI Sequence Detail 63522 C57BL/6J ±  kb
    transcript ENSMUST00000048603 Ensembl | MGI Sequence Detail 12872 Not Applicable  
    polypeptide ENSMUSP00000043281 Ensembl | MGI Sequence Detail 4250 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000006555 dynein axonemal heavy chain 1
      (term hierarchy)
    • InterPro Domains
      IPR026983 Dynein heavy chain
      IPR041589 Dynein heavy chain 3, AAA+ lid domain
      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
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 17

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36297, MGI:2442419, MGI:2444537, MGI:3038337
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:34934 Vaughan KT, et al., Multiple mouse chromosomal loci for dynein-based motility. Genomics. 1996 Aug 15;36(1):29-38
    • Latest
      J:329805 Khan R, et al., Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice. Front Endocrinol (Lausanne). 2021;12:765639
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory