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FLASH GENE

Symbol

DYNC1H1

contributors: mct - updated : 15-06-2013

HGNC name	dynein, cytoplasmic, heavy polypeptide 1
HGNC id	2961

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       highly Reproductive female system uterus cervix   highly   female system breast mammary gland   highly   male system testis       Respiratory lung           respiratory tract trachea

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a conserved globular, ATP binding N terminal head
	a tail composed of a string of rod-like domains

HOMOLOGY

interspecies	homolog to murine Dnch1
	homolog to C.elegans Y51H7c.6A
	homolog to rattus dynein heavy chain

Homologene

FAMILY

dynein heavy chain/ATPase family

CATEGORY

enzyme , motor/contractile

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle

basic FUNCTION	retrograde transport motor cytoplasmic involved in axonal transport and in microtubule-based movement
	playing an unique and important role in the initial events of bipolar spindle formation, while any later roles in mitosis maybe redundant
	potential role for the dynein tail in motor function, and provide direct evidence for a link between single-motor processivity and disease

CELLULAR PROCESS	cell cycle, division, mitosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

cytoplasmic dynein made of two heavy and several light and intermediate chains

INTERACTION

DNA

RNA

small molecule
	ATP binding

protein	intermediate and light chains
	DYNC1H1 interact with NF1 along microtubules in vesicular structures identified to be melanosomes and disruptions in the interaction may contribute to the abnormal pigmentary features commonly associated with NF1 disease

cell & other

binding to organelles is modulated by dynactin

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRD13 , CMT2O

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects .

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	missense point mutation in murine Dync1h1 that results in late-onset motor neuron loss, also present with a severe, early-onset proprioceptive sensory neuropathy (