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Gene id 1778
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol DYNC1H1   Gene   UCSC   Ensembl
Aliases CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22
Gene name dynein cytoplasmic 1 heavy chain 1
Alternate names cytoplasmic dynein 1 heavy chain 1, dynein heavy chain, cytosolic, dynein, cytoplasmic, heavy polypeptide 1,
Gene location 14q32.31 (101964527: 102050797)     Exons: 78     NC_000014.9
Gene summary(Entrez) Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transp
OMIM 600112

Protein Summary

Protein general information Q14204  

Name: Cytoplasmic dynein 1 heavy chain 1 (Cytoplasmic dynein heavy chain 1) (Dynein heavy chain, cytosolic)

Length: 4646  Mass: 532,408

Sequence MSEPGGGGGEDGSAGLEVSAVQNVADVSVLQKHLRKLVPLLLEDGGEAPAALEAALEEKSALEQMRKFLSDPQVH
TVLVERSTLKEDVGDEGEEEKEFISYNINIDIHYGVKSNSLAFIKRTPVIDADKPVSSQLRVLTLSEDSPYETLH
SFISNAVAPFFKSYIRESGKADRDGDKMAPSVEKKIAELEMGLLHLQQNIEIPEISLPIHPMITNVAKQCYERGE
KPKVTDFGDKVEDPTFLNQLQSGVNRWIREIQKVTKLDRDPASGTALQEISFWLNLERALYRIQEKRESPEVLLT
LDILKHGKRFHATVSFDTDTGLKQALETVNDYNPLMKDFPLNDLLSATELDKIRQALVAIFTHLRKIRNTKYPIQ
RALRLVEAISRDLSSQLLKVLGTRKLMHVAYEEFEKVMVACFEVFQTWDDEYEKLQVLLRDIVKRKREENLKMVW
RINPAHRKLQARLDQMRKFRRQHEQLRAVIVRVLRPQVTAVAQQNQGEVPEPQDMKVAEVLFDAADANAIEEVNL
AYENVKEVDGLDVSKEGTEAWEAAMKRYDERIDRVETRITARLRDQLGTAKNANEMFRIFSRFNALFVRPHIRGA
IREYQTQLIQRVKDDIESLHDKFKVQYPQSQACKMSHVRDLPPVSGSIIWAKQIDRQLTAYMKRVEDVLGKGWEN
HVEGQKLKQDGDSFRMKLNTQEIFDDWARKVQQRNLGVSGRIFTIESTRVRGRTGNVLKLKVNFLPEIITLSKEV
RNLKWLGFRVPLAIVNKAHQANQLYPFAISLIESVRTYERTCEKVEERNTISLLVAGLKKEVQALIAEGIALVWE
SYKLDPYVQRLAETVFNFQEKVDDLLIIEEKIDLEVRSLETCMYDHKTFSEILNRVQKAVDDLNLHSYSNLPIWV
NKLDMEIERILGVRLQAGLRAWTQVLLGQAEDKAEVDMDTDAPQVSHKPGGEPKIKNVVHELRITNQVIYLNPPI
EECRYKLYQEMFAWKMVVLSLPRIQSQRYQVGVHYELTEEEKFYRNALTRMPDGPVALEESYSAVMGIVSEVEQY
VKVWLQYQCLWDMQAENIYNRLGEDLNKWQALLVQIRKARGTFDNAETKKEFGPVVIDYGKVQSKVNLKYDSWHK
EVLSKFGQMLGSNMTEFHSQISKSRQELEQHSVDTASTSDAVTFITYVQSLKRKIKQFEKQVELYRNGQRLLEKQ
RFQFPPSWLYIDNIEGEWGAFNDIMRRKDSAIQQQVANLQMKIVQEDRAVESRTTDLLTDWEKTKPVTGNLRPEE
ALQALTIYEGKFGRLKDDREKCAKAKEALELTDTGLLSGSEERVQVALEELQDLKGVWSELSKVWEQIDQMKEQP
WVSVQPRKLRQNLDALLNQLKSFPARLRQYASYEFVQRLLKGYMKINMLVIELKSEALKDRHWKQLMKRLHVNWV
VSELTLGQIWDVDLQKNEAIVKDVLLVAQGEMALEEFLKQIREVWNTYELDLVNYQNKCRLIRGWDDLFNKVKEH
INSVSAMKLSPYYKVFEEDALSWEDKLNRIMALFDVWIDVQRRWVYLEGIFTGSADIKHLLPVETQRFQSISTEF
LALMKKVSKSPLVMDVLNIQGVQRSLERLADLLGKIQKALGEYLERERSSFPRFYFVGDEDLLEIIGNSKNVAKL
QKHFKKMFAGVSSIILNEDNSVVLGISSREGEEVMFKTPVSITEHPKINEWLTLVEKEMRVTLAKLLAESVTEVE
IFGKATSIDPNTYITWIDKYQAQLVVLSAQIAWSENVETALSSMGGGGDAAPLHSVLSNVEVTLNVLADSVLMEQ
PPLRRRKLEHLITELVHQRDVTRSLIKSKIDNAKSFEWLSQMRFYFDPKQTDVLQQLSIQMANAKFNYGFEYLGV
QDKLVQTPLTDRCYLTMTQALEARLGGSPFGPAGTGKTESVKALGHQLGRFVLVFNCDETFDFQAMGRIFVGLCQ
VGAWGCFDEFNRLEERMLSAVSQQVQCIQEALREHSNPNYDKTSAPITCELLNKQVKVSPDMAIFITMNPGYAGR
SNLPDNLKKLFRSLAMTKPDRQLIAQVMLYSQGFRTAEVLANKIVPFFKLCDEQLSSQSHYDFGLRALKSVLVSA
GNVKRERIQKIKREKEERGEAVDEGEIAENLPEQEILIQSVCETMVPKLVAEDIPLLFSLLSDVFPGVQYHRGEM
TALREELKKVCQEMYLTYGDGEEVGGMWVEKVLQLYQITQINHGLMMVGPSGSGKSMAWRVLLKALERLEGVEGV
AHIIDPKAISKDHLYGTLDPNTREWTDGLFTHVLRKIIDSVRGELQKRQWIVFDGDVDPEWVENLNSVLDDNKLL
TLPNGERLSLPPNVRIMFEVQDLKYATLATVSRCGMVWFSEDVLSTDMIFNNFLARLRSIPLDEGEDEAQRRRKG
KEDEGEEAASPMLQIQRDAATIMQPYFTSNGLVTKALEHAFQLEHIMDLTRLRCLGSLFSMLHQACRNVAQYNAN
HPDFPMQIEQLERYIQRYLVYAILWSLSGDSRLKMRAELGEYIRRITTVPLPTAPNIPIIDYEVSISGEWSPWQA
KVPQIEVETHKVAAPDVVVPTLDTVRHEALLYTWLAEHKPLVLCGPPGSGKTMTLFSALRALPDMEVVGLNFSSA
TTPELLLKTFDHYCEYRRTPNGVVLAPVQLGKWLVLFCDEINLPDMDKYGTQRVISFIRQMVEHGGFYRTSDQTW
VKLERIQFVGACNPPTDPGRKPLSHRFLRHVPVVYVDYPGPASLTQIYGTFNRAMLRLIPSLRTYAEPLTAAMVE
FYTMSQERFTQDTQPHYIYSPREMTRWVRGIFEALRPLETLPVEGLIRIWAHEALRLFQDRLVEDEERRWTDENI
DTVALKHFPNIDREKAMSRPILYSNWLSKDYIPVDQEELRDYVKARLKVFYEEELDVPLVLFNEVLDHVLRIDRI
FRQPQGHLLLIGVSGAGKTTLSRFVAWMNGLSVYQIKVHRKYTGEDFDEDLRTVLRRSGCKNEKIAFIMDESNVL
DSGFLERMNTLLANGEVPGLFEGDEYATLMTQCKEGAQKEGLMLDSHEELYKWFTSQVIRNLHVVFTMNPSSEGL
KDRAATSPALFNRCVLNWFGDWSTEALYQVGKEFTSKMDLEKPNYIVPDYMPVVYDKLPQPPSHREAIVNSCVFV
HQTLHQANARLAKRGGRTMAITPRHYLDFINHYANLFHEKRSELEEQQMHLNVGLRKIKETVDQVEELRRDLRIK
SQELEVKNAAANDKLKKMVKDQQEAEKKKVMSQEIQEQLHKQQEVIADKQMSVKEDLDKVEPAVIEAQNAVKSIK
KQHLVEVRSMANPPAAVKLALESICLLLGESTTDWKQIRSIIMRENFIPTIVNFSAEEISDAIREKMKKNYMSNP
SYNYEIVNRASLACGPMVKWAIAQLNYADMLKRVEPLRNELQKLEDDAKDNQQKANEVEQMIRDLEASIARYKEE
YAVLISEAQAIKADLAAVEAKVNRSTALLKSLSAERERWEKTSETFKNQMSTIAGDCLLSAAFIAYAGYFDQQMR
QNLFTTWSHHLQQANIQFRTDIARTEYLSNADERLRWQASSLPADDLCTENAIMLKRFNRYPLIIDPSGQATEFI
MNEYKDRKITRTSFLDDAFRKNLESALRFGNPLLVQDVESYDPVLNPVLNREVRRTGGRVLITLGDQDIDLSPSF
VIFLSTRDPTVEFPPDLCSRVTFVNFTVTRSSLQSQCLNEVLKAERPDVDEKRSDLLKLQGEFQLRLRQLEKSLL
QALNEVKGRILDDDTIITTLENLKREAAEVTRKVEETDIVMQEVETVSQQYLPLSTACSSIYFTMESLKQIHFLY
QYSLQFFLDIYHNVLYENPNLKGVTDHTQRLSIITKDLFQVAFNRVARGMLHQDHITFAMLLARIKLKGTVGEPT
YDAEFQHFLRGNEIVLSAGSTPRIQGLTVEQAEAVVRLSCLPAFKDLIAKVQADEQFGIWLDSSSPEQTVPYLWS
EETPATPIGQAIHRLLLIQAFRPDRLLAMAHMFVSTNLGESFMSIMEQPLDLTHIVGTEVKPNTPVLMCSVPGYD
ASGHVEDLAAEQNTQITSIAIGSAEGFNQADKAINTAVKSGRWVMLKNVHLAPGWLMQLEKKLHSLQPHACFRLF
LTMEINPKVPVNLLRAGRIFVFEPPPGVKANMLRTFSSIPVSRICKSPNERARLYFLLAWFHAIIQERLRYAPLG
WSKKYEFGESDLRSACDTVDTWLDDTAKGRQNISPDKIPWSALKTLMAQSIYGGRVDNEFDQRLLNTFLERLFTT
RSFDSEFKLACKVDGHKDIQMPDGIRREEFVQWVELLPDTQTPSWLGLPNNAERVLLTTQGVDMISKMLKMQMLE
DEDDLAYAETEKKTRTDSTSDGRPAWMRTLHTTASNWLHLIPQTLSHLKRTVENIKDPLFRFFEREVKMGAKLLQ
DVRQDLADVVQVCEGKKKQTNYLRTLINELVKGILPRSWSHYTVPAGMTVIQWVSDFSERIKQLQNISLAAASGG
AKELKNIHVCLGGLFVPEAYITATRQYVAQANSWSLEELCLEVNVTTSQGATLDACSFGVTGLKLQGATCNNNKL
SLSNAISTALPLTQLRWVKQTNTEKKASVVTLPVYLNFTRADLIFTVDFEIATKEDPRSFYERGVAVLCTE
Structural information
Interpro:  IPR003593  IPR035699  IPR011704  IPR035706  IPR026983  
IPR024743  IPR024317  IPR004273  IPR013594  IPR013602  IPR027417  

PDB:  
2BOR 2BOT 5NUG 6F1T 6F1U 6F1V 6F1Y 6F38 6F3A
PDBsum:   2BOR 2BOT 5NUG 6F1T 6F1U 6F1V 6F1Y 6F38 6F3A

DIP:  

37544

MINT:  
STRING:   ENSP00000348965
Other Databases GeneCards:  DYNC1H1  Malacards:  DYNC1H1

Gene ontology

Expand All | Collapse All

GO accessionTerm nameEvidence codeGo category
GO:0000086 G2/M transition of mitoti
c cell cycle
TAS biological process
GO:0003777 microtubule motor activit
y
IEA molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005524 ATP binding
IEA molecular function
GO:0005813 centrosome
IDA cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005868 cytoplasmic dynein comple
x
IDA cellular component
GO:0005868 cytoplasmic dynein comple
x
NAS cellular component
GO:0005874 microtubule
IDA cellular component
GO:0006888 ER to Golgi vesicle-media
ted transport
TAS biological process
GO:0007018 microtubule-based movemen
t
IEA biological process
GO:0007052 mitotic spindle organizat
ion
NAS biological process
GO:0016020 membrane
IDA cellular component
GO:0016887 ATPase activity
IEA molecular function
GO:0019886 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass II
TAS biological process
GO:0030175 filopodium
IEA cellular component
GO:0033962 cytoplasmic mRNA processi
ng body assembly
ISS biological process
GO:0034063 stress granule assembly
ISS biological process
GO:0044822 poly(A) RNA binding
IDA molecular function
GO:0044822 poly(A) RNA binding
IDA molecular function
GO:0051293 establishment of spindle
localization
IMP biological process
GO:0051959 dynein light intermediate
chain binding
IPI molecular function
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0000086 G2/M transition of mitoti
c cell cycle
TAS biological process
GO:0000166 nucleotide binding
IEA molecular function
GO:0003774 motor activity
IEA molecular function
GO:0003777 microtubule motor activit
y
IEA molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005524 ATP binding
IEA molecular function
GO:0005524 ATP binding
IEA molecular function
GO:0005737 cytoplasm
IEA cellular component
GO:0005737 cytoplasm
IEA cellular component
GO:0005813 centrosome
IDA cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005856 cytoskeleton
IEA cellular component
GO:0005856 cytoskeleton
IEA cellular component
GO:0005868 cytoplasmic dynein comple
x
IDA cellular component
GO:0005868 cytoplasmic dynein comple
x
NAS cellular component
GO:0005874 microtubule
IEA cellular component
GO:0005874 microtubule
IDA cellular component
GO:0006810 transport
IEA biological process
GO:0006888 ER to Golgi vesicle-media
ted transport
TAS biological process
GO:0007018 microtubule-based movemen
t
IEA biological process
GO:0007052 mitotic spindle organizat
ion
NAS biological process
GO:0016020 membrane
IDA cellular component
GO:0016887 ATPase activity
IEA molecular function
GO:0019886 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass II
TAS biological process
GO:0030175 filopodium
IEA cellular component
GO:0030286 dynein complex
IEA cellular component
GO:0030286 dynein complex
IEA cellular component
GO:0033962 cytoplasmic mRNA processi
ng body assembly
IEA biological process
GO:0033962 cytoplasmic mRNA processi
ng body assembly
ISS biological process
GO:0034063 stress granule assembly
IEA biological process
GO:0034063 stress granule assembly
ISS biological process
GO:0044822 poly(A) RNA binding
IDA molecular function
GO:0044822 poly(A) RNA binding
IDA molecular function
GO:0051293 establishment of spindle
localization
IMP biological process
GO:0051959 dynein light intermediate
chain binding
IEA molecular function
GO:0051959 dynein light intermediate
chain binding
IPI molecular function
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0000086 G2/M transition of mitoti
c cell cycle
TAS biological process
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005813 centrosome
IDA cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005868 cytoplasmic dynein comple
x
IDA cellular component
GO:0005868 cytoplasmic dynein comple
x
NAS cellular component
GO:0005874 microtubule
IDA cellular component
GO:0006888 ER to Golgi vesicle-media
ted transport
TAS biological process
GO:0007052 mitotic spindle organizat
ion
NAS biological process
GO:0016020 membrane
IDA cellular component
GO:0019886 antigen processing and pr
esentation of exogenous p
eptide antigen via MHC cl
ass II
TAS biological process
GO:0033962 cytoplasmic mRNA processi
ng body assembly
ISS biological process
GO:0034063 stress granule assembly
ISS biological process
GO:0044822 poly(A) RNA binding
IDA molecular function
GO:0044822 poly(A) RNA binding
IDA molecular function
GO:0051293 establishment of spindle
localization
IMP biological process
GO:0051959 dynein light intermediate
chain binding
IPI molecular function
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component
GO:0070062 extracellular exosome
IDA cellular component

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04145Phagosome
hsa04962Vasopressin-regulated water reabsorption
hsa05132Salmonella infection
Associated diseases References
Distal hereditary motor neuropathies KEGG: H00856
Charcot-Marie-Tooth disease KEGG: H00264
Mental retardation KEGG: H00773
Mental retardation OMIM: 600112
Spinal muscular atrophy OMIM: 600112
Amyotrophic lateral sclerosis (ALS) GAD: 16546759
Asthenozoospermia MIK: 20231113
Male factor infertility MIK: 20369545
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Asthenozoospermia MIK: 20231113
Asthenozoospermia MIK: 20369545
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All

PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20369545 Asthenozoo
spermia

6 seminal plasm
a samples were
collected by Pe
rcoll respectiv
ely from health
y fertile and a
sthenozoospermi
a volunteers
Male infertility annexin VI isoform 2
isoform 1 of interleukin-6 receptor subunit beta precursor
Mr 400
000 protein
cytosolic dynein heavy chain
alpha-actinin-4
receptor-type tyrosine-protein phosphatase eta precursor
vitamin D-binding protein precursor
protein S10
Show abstract
20231113 Asthenozoo
spermia

12 (6 healthy f
ertile men, 6 a
sthenozoospermi
a volunteers)
Male infertility annexin VI isoform 2
isoform 1 of interleukin-6 receptor subunit beta precursor
Mr 400
000 protein
cytosolic dynein heavy chain
alpha-actinin-4
receptor-type tyrosine-protein phosphatase eta precursor
vitamin D-binding protein precursor
protein S10
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract