ENSG00000197102


Homo sapiens

Features
Gene ID: ENSG00000197102
  
Biological name :DYNC1H1
  
Synonyms : DYNC1H1 / dynein cytoplasmic 1 heavy chain 1 / Q14204
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.31
Gene start: 101964510
Gene end: 102056443
  
Corresponding Affymetrix probe sets: 1556831_at (Human Genome U133 Plus 2.0 Array)   211928_at (Human Genome U133 Plus 2.0 Array)   229042_s_at (Human Genome U133 Plus 2.0 Array)   229115_at (Human Genome U133 Plus 2.0 Array)   236183_at (Human Genome U133 Plus 2.0 Array)   241084_x_at (Human Genome U133 Plus 2.0 Array)   244768_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495884
Ensembl peptide - ENSP00000495944
Ensembl peptide - ENSP00000348965
Ensembl peptide - ENSP00000450674
Ensembl peptide - ENSP00000494189
Ensembl peptide - ENSP00000495022
Ensembl peptide - ENSP00000495220
Ensembl peptide - ENSP00000495356
Ensembl peptide - ENSP00000495528
NCBI entrez gene - 1778     See in Manteia.
OMIM - 600112
RefSeq - NM_001376
RefSeq Peptide - NP_001367
swissprot - H0YJ21
swissprot - Q14204
Ensembl - ENSG00000197102
  
Related genetic diseases (OMIM): 158600 - Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
  614228 - Charcot-Marie-Tooth disease, axonal, type 20, 614228
  614563 - Mental retardation, autosomal dominant 13, 614563
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 DYNC1H1ENSGALG00000011330Gallus gallus
 Q9JHU4ENSMUSG00000018707Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DNAH17 / Q9UFH2 / dynein axonemal heavy chain 17ENSG0000018777524
DNAH11 / Q96DT5 / dynein axonemal heavy chain 11ENSG0000010587724
DNAH2 / Q9P225 / dynein axonemal heavy chain 2ENSG0000018391423
DNAH1 / Q9P2D7 / dynein axonemal heavy chain 1ENSG0000011484122
DNAH8 / Q96JB1 / dynein axonemal heavy chain 8ENSG0000012472122
DNAH6 / Q9C0G6 / dynein axonemal heavy chain 6ENSG0000011542321
DNAH7 / Q8WXX0 / dynein axonemal heavy chain 7ENSG0000011899721
DNAH14 / Q0VDD8 / dynein axonemal heavy chain 14ENSG000001858421


Protein motifs (from Interpro)
Interpro ID Name
 IPR003593  AAA+ ATPase domain
 IPR004273  Dynein heavy chain domain
 IPR011704  ATPase, dynein-related, AAA domain
 IPR013594  Dynein heavy chain, domain-1
 IPR013602  Dynein heavy chain, domain-2
 IPR024317  Dynein heavy chain, AAA module D4
 IPR024743  Dynein heavy chain, coiled coil stalk
 IPR026983  Dynein heavy chain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035699  Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1
 IPR035706  Dynein heavy chain, ATP-binding dynein motor region D5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007052 mitotic spindle organization NAS
 biological_processGO:0007062 sister chromatid cohesion TAS
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0031122 cytoplasmic microtubule organization IBA
 biological_processGO:0032388 positive regulation of intracellular transport IMP
 biological_processGO:0033962 cytoplasmic mRNA processing body assembly IEA
 biological_processGO:0034063 stress granule assembly IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0051293 establishment of spindle localization IMP
 biological_processGO:0051301 cell division IEA
 biological_processGO:0060236 regulation of mitotic spindle organization IMP
 biological_processGO:0072382 minus-end-directed vesicle transport along microtubule IBA
 biological_processGO:0090235 regulation of metaphase plate congression IMP
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 biological_processGO:1905832 positive regulation of spindle assembly IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005868 cytoplasmic dynein complex IDA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0030286 dynein complex IEA
 cellular_componentGO:0035578 azurophil granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008569 ATP-dependent microtubule motor activity, minus-end-directed IDA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0045503 dynein light chain binding IBA
 molecular_functionGO:0045505 dynein intermediate chain binding IBA
 molecular_functionGO:0051959 dynein light intermediate chain binding IEA


Pathways (from Reactome)
Pathway description
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
Neutrophil degranulation
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
AURKA Activation by TPX2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0001249 Mental retardation 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001270 Motor retardation 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
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 HP:0001321 Cerebellar hypoplasia 
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 HP:0001357 Plagiocephaly "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators]
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 HP:0001760 Abnormality of the feet "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0001999 Facial dysmorphism 
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 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0002359 Frequent falls 
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 HP:0002365 Hypoplasia of the brainstem 
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
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 HP:0002515 Waddling gait 
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 HP:0002936 Distal sensory impairment 
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 HP:0003431 Decreased motor nerve conduction velocity (NCV) 
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 HP:0003445 EMG shows neuropathic changes 
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 HP:0003474 Sensory impairment 
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 HP:0003477 Axonal neuropathy 
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 HP:0003677 Slow progression 
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 HP:0003690 Limb muscle weakness "Weakness of the muscles of the arms and legs." [HPO:curators]
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 HP:0003812 Phenotypic variability 
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 HP:0007269 Spinal muscular atrophy "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators]
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 HP:0007359 Partial seizures "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators]
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 HP:0008956 Proximal lower limb muscle atrophy "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators]
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 HP:0008994 Proximal muscle weakness in lower limbs "A lack of strength of the proximal muscles of the legs." [HPO:curators]
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 HP:0009046 Difficulty walking, running, climbing stairs 
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 HP:0010602 Type 2 muscle fiber predominance "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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 HP:0011808 Decreased patellar reflex "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson]
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 HP:0200055 Small hands 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000088986 DYNLL1 / P63167 / dynein light chain LC8-type 1  / complex
 ENSG00000135720 O43237 / DYNC1LI2 / dynein cytoplasmic 1 light intermediate chain 2  / complex
 ENSG00000144635 Q9Y6G9 / DYNC1LI1 / dynein cytoplasmic 1 light intermediate chain 1  / complex
 ENSG00000077380 Q13409 / DYNC1I2 / dynein cytoplasmic 1 intermediate chain 2  / complex
 ENSG00000158560 O14576 / DYNC1I1 / dynein cytoplasmic 1 intermediate chain 1  / complex
 ENSG00000198898 CAPZA2 / P47755 / capping actin protein of muscle Z-line alpha subunit 2  / complex
 ENSG00000175203 DCTN2 / Q13561 / dynactin subunit 2  / complex
 ENSG00000132912 DCTN4 / Q9UJW0 / dynactin subunit 4  / complex
 ENSG00000007168 P43034 / PAFAH1B1 / platelet activating factor acetylhydrolase 1b regulatory subunit 1  / complex
 ENSG00000151746 BICD1 / Q96G01 / BICD cargo adaptor 1  / complex / reaction
 ENSG00000177938 CAPZA3 / Q96KX2 / capping actin protein of muscle Z-line alpha subunit 3  / complex
 ENSG00000204843 DCTN1 / Q14203 / dynactin subunit 1  / complex
 ENSG00000131966 ACTR10 / Q9NZ32 / actin related protein 10 homolog  / complex
 ENSG00000141429 GALNT1 / Q10472 / polypeptide N-acetylgalactosaminyltransferase 1  / reaction / complex
 ENSG00000077549 CAPZB / P47756 / capping actin protein of muscle Z-line beta subunit  / complex
 ENSG00000104671 DCTN6 / O00399 / dynactin subunit 6  / complex
 ENSG00000166847 DCTN5 / Q9BTE1 / dynactin subunit 5  / complex
 ENSG00000175582 RAB6A / P20340 / RAB6A, member RAS oncogene family  / complex / reaction
 ENSG00000143641 GALNT2 / Q10471 / polypeptide N-acetylgalactosaminyltransferase 2  / reaction / complex
 ENSG00000138107 ACTR1A / P61163 / ARP1 actin related protein 1 homolog A  / complex
 ENSG00000137100 DCTN3 / O75935 / dynactin subunit 3  / complex
 ENSG00000116489 CAPZA1 / P52907 / capping actin protein of muscle Z-line alpha subunit 1  / complex
 ENSG00000197102 Q14204 / DYNC1H1 / dynein cytoplasmic 1 heavy chain 1  / complex
 ENSG00000264364 DYNLL2 / Q96FJ2 / dynein light chain LC8-type 2  / complex






 

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