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FLASH GENE
Symbol DNHD1 contributors: mct - updated : 08-03-2022
HGNC name dynein heavy chain domain 1
HGNC id 26532
Corresponding disease
SPGF65 spermatogenic failure 65
Location 11p15.4      Physical location : 6.518.525 - 6.593.252
Synonym name
  • DNHD1 variant protein
  • chromosome 11 open reading frame 47
  • dynein heavy chain domain 1-like
  • coiled-coil domain containing 35
    • Synonym symbol(s) DHCD1, FLJ32752, FLJ46184, C11orf47, DNHD1L, CCDC35, FLJ35709, DKFZp686J0796, DKFZp434G0812, DKFZp686N1238, FLJ00251, FLJ39625, FLJ43897, FLJ46184, MGC133191
    DNA
    TYPE functioning gene
    STRUCTURE 74.73 kb     43 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    43 - 14882 - 4753 - 2022 34932939
    8 - 3233 - 597 - 2022 34932939
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Reproductivefemale systemuterus   
     male systemtestis  highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five coiled-coil domains
    • HOMOLOGY
    Homologene
    FAMILY
  • dynein heavy chain family
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • is an essential gene for maintaining normal sperm flagellar morphology and motility
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • dynein heavy chain family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPGF65
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes abnormalities in both axonemes and peri-axonemes, leading to asthenoteratozoospermia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dnhd1-/- male mice were sterile and displayed various abnormal flagella as well as sperm immobility