Property Summary

NCBI Gene PubMed Count 76
Grant Count 5
Funding $682,230
PubMed Score 54.25
PubTator Score 69.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
ependymoma -1.500 0.028
osteosarcoma 3.428 0.000
astrocytoma 1.100 0.017
juvenile dermatomyositis 1.079 0.000
lung cancer 1.100 0.001
diabetes mellitus -1.100 0.002
Pick disease 1.700 0.000
ovarian cancer 1.900 0.000

Synonym

Accession Q14204 B0I1R0 Q6DKQ7 Q8WU28 Q92814 Q9Y4G5
Symbols p22
DHC1
DNCL
DYHC
HL-3
CMT2O
DHC1a
DNCH1
DNECL
Dnchc1
SMALED1

Gene

PDB

2BOR   2BOT  

 GWAS Trait (1)

Gene RIF (43)

PMID Text
26100331 Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease.
25818806 HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with cytoplasmic virions
25818806 HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with cytoplasmic virions
25609763 Report expands the clinical spectrum of DYNC1H1-related spinal muscular atrophy to include generalized arthrogryposis
25512093 The mutations in DYNC1H1 increase the interaction with its adaptor BICD2.
25502651 Dynein heavy chain knockdown by siRNA enhances HIV-1 infectivity in TRIMCyp-expressing HeLa cells but not in TRIMCyp-expressing owl monkey cells
25479096 These findings also reveal a possible new target for Amblyomin-X, i.e., dynein, and may serve as a tool for investigating tumor cell death associated with proteasome inhibition.
25375884 HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with cytoplasmic virions
25375884 HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with cytoplasmic virions
25375884 HIV-1 uncoating is facilitated by dynein motor function since siRNA knockdown of DYNC1H1 increases the amount of HIV-1 p24 associated with cytoplasmic virions
More...

AA Sequence

MSEPGGGGGEDGSAGLEVSAVQNVADVSVLQKHLRKLVPLLLEDGGEAPAALEAALEEKSALEQMRKFLS      1 - 70
DPQVHTVLVERSTLKEDVGDEGEEEKEFISYNINIDIHYGVKSNSLAFIKRTPVIDADKPVSSQLRVLTL     71 - 140
SEDSPYETLHSFISNAVAPFFKSYIRESGKADRDGDKMAPSVEKKIAELEMGLLHLQQNIEIPEISLPIH    141 - 210
PMITNVAKQCYERGEKPKVTDFGDKVEDPTFLNQLQSGVNRWIREIQKVTKLDRDPASGTALQEISFWLN    211 - 280
LERALYRIQEKRESPEVLLTLDILKHGKRFHATVSFDTDTGLKQALETVNDYNPLMKDFPLNDLLSATEL    281 - 350
DKIRQALVAIFTHLRKIRNTKYPIQRALRLVEAISRDLSSQLLKVLGTRKLMHVAYEEFEKVMVACFEVF    351 - 420
QTWDDEYEKLQVLLRDIVKRKREENLKMVWRINPAHRKLQARLDQMRKFRRQHEQLRAVIVRVLRPQVTA    421 - 490
VAQQNQGEVPEPQDMKVAEVLFDAADANAIEEVNLAYENVKEVDGLDVSKEGTEAWEAAMKRYDERIDRV    491 - 560
ETRITARLRDQLGTAKNANEMFRIFSRFNALFVRPHIRGAIREYQTQLIQRVKDDIESLHDKFKVQYPQS    561 - 630
QACKMSHVRDLPPVSGSIIWAKQIDRQLTAYMKRVEDVLGKGWENHVEGQKLKQDGDSFRMKLNTQEIFD    631 - 700
DWARKVQQRNLGVSGRIFTIESTRVRGRTGNVLKLKVNFLPEIITLSKEVRNLKWLGFRVPLAIVNKAHQ    701 - 770
ANQLYPFAISLIESVRTYERTCEKVEERNTISLLVAGLKKEVQALIAEGIALVWESYKLDPYVQRLAETV    771 - 840
FNFQEKVDDLLIIEEKIDLEVRSLETCMYDHKTFSEILNRVQKAVDDLNLHSYSNLPIWVNKLDMEIERI    841 - 910
LGVRLQAGLRAWTQVLLGQAEDKAEVDMDTDAPQVSHKPGGEPKIKNVVHELRITNQVIYLNPPIEECRY    911 - 980
KLYQEMFAWKMVVLSLPRIQSQRYQVGVHYELTEEEKFYRNALTRMPDGPVALEESYSAVMGIVSEVEQY    981 - 1050
VKVWLQYQCLWDMQAENIYNRLGEDLNKWQALLVQIRKARGTFDNAETKKEFGPVVIDYGKVQSKVNLKY   1051 - 1120
DSWHKEVLSKFGQMLGSNMTEFHSQISKSRQELEQHSVDTASTSDAVTFITYVQSLKRKIKQFEKQVELY   1121 - 1190
RNGQRLLEKQRFQFPPSWLYIDNIEGEWGAFNDIMRRKDSAIQQQVANLQMKIVQEDRAVESRTTDLLTD   1191 - 1260
WEKTKPVTGNLRPEEALQALTIYEGKFGRLKDDREKCAKAKEALELTDTGLLSGSEERVQVALEELQDLK   1261 - 1330
GVWSELSKVWEQIDQMKEQPWVSVQPRKLRQNLDALLNQLKSFPARLRQYASYEFVQRLLKGYMKINMLV   1331 - 1400
IELKSEALKDRHWKQLMKRLHVNWVVSELTLGQIWDVDLQKNEAIVKDVLLVAQGEMALEEFLKQIREVW   1401 - 1470
NTYELDLVNYQNKCRLIRGWDDLFNKVKEHINSVSAMKLSPYYKVFEEDALSWEDKLNRIMALFDVWIDV   1471 - 1540
QRRWVYLEGIFTGSADIKHLLPVETQRFQSISTEFLALMKKVSKSPLVMDVLNIQGVQRSLERLADLLGK   1541 - 1610
IQKALGEYLERERSSFPRFYFVGDEDLLEIIGNSKNVAKLQKHFKKMFAGVSSIILNEDNSVVLGISSRE   1611 - 1680
GEEVMFKTPVSITEHPKINEWLTLVEKEMRVTLAKLLAESVTEVEIFGKATSIDPNTYITWIDKYQAQLV   1681 - 1750
VLSAQIAWSENVETALSSMGGGGDAAPLHSVLSNVEVTLNVLADSVLMEQPPLRRRKLEHLITELVHQRD   1751 - 1820
VTRSLIKSKIDNAKSFEWLSQMRFYFDPKQTDVLQQLSIQMANAKFNYGFEYLGVQDKLVQTPLTDRCYL   1821 - 1890
TMTQALEARLGGSPFGPAGTGKTESVKALGHQLGRFVLVFNCDETFDFQAMGRIFVGLCQVGAWGCFDEF   1891 - 1960
NRLEERMLSAVSQQVQCIQEALREHSNPNYDKTSAPITCELLNKQVKVSPDMAIFITMNPGYAGRSNLPD   1961 - 2030
NLKKLFRSLAMTKPDRQLIAQVMLYSQGFRTAEVLANKIVPFFKLCDEQLSSQSHYDFGLRALKSVLVSA   2031 - 2100
GNVKRERIQKIKREKEERGEAVDEGEIAENLPEQEILIQSVCETMVPKLVAEDIPLLFSLLSDVFPGVQY   2101 - 2170
HRGEMTALREELKKVCQEMYLTYGDGEEVGGMWVEKVLQLYQITQINHGLMMVGPSGSGKSMAWRVLLKA   2171 - 2240
LERLEGVEGVAHIIDPKAISKDHLYGTLDPNTREWTDGLFTHVLRKIIDSVRGELQKRQWIVFDGDVDPE   2241 - 2310
WVENLNSVLDDNKLLTLPNGERLSLPPNVRIMFEVQDLKYATLATVSRCGMVWFSEDVLSTDMIFNNFLA   2311 - 2380
RLRSIPLDEGEDEAQRRRKGKEDEGEEAASPMLQIQRDAATIMQPYFTSNGLVTKALEHAFQLEHIMDLT   2381 - 2450
RLRCLGSLFSMLHQACRNVAQYNANHPDFPMQIEQLERYIQRYLVYAILWSLSGDSRLKMRAELGEYIRR   2451 - 2520
ITTVPLPTAPNIPIIDYEVSISGEWSPWQAKVPQIEVETHKVAAPDVVVPTLDTVRHEALLYTWLAEHKP   2521 - 2590
LVLCGPPGSGKTMTLFSALRALPDMEVVGLNFSSATTPELLLKTFDHYCEYRRTPNGVVLAPVQLGKWLV   2591 - 2660
LFCDEINLPDMDKYGTQRVISFIRQMVEHGGFYRTSDQTWVKLERIQFVGACNPPTDPGRKPLSHRFLRH   2661 - 2730
VPVVYVDYPGPASLTQIYGTFNRAMLRLIPSLRTYAEPLTAAMVEFYTMSQERFTQDTQPHYIYSPREMT   2731 - 2800
RWVRGIFEALRPLETLPVEGLIRIWAHEALRLFQDRLVEDEERRWTDENIDTVALKHFPNIDREKAMSRP   2801 - 2870
ILYSNWLSKDYIPVDQEELRDYVKARLKVFYEEELDVPLVLFNEVLDHVLRIDRIFRQPQGHLLLIGVSG   2871 - 2940
AGKTTLSRFVAWMNGLSVYQIKVHRKYTGEDFDEDLRTVLRRSGCKNEKIAFIMDESNVLDSGFLERMNT   2941 - 3010
LLANGEVPGLFEGDEYATLMTQCKEGAQKEGLMLDSHEELYKWFTSQVIRNLHVVFTMNPSSEGLKDRAA   3011 - 3080
TSPALFNRCVLNWFGDWSTEALYQVGKEFTSKMDLEKPNYIVPDYMPVVYDKLPQPPSHREAIVNSCVFV   3081 - 3150
HQTLHQANARLAKRGGRTMAITPRHYLDFINHYANLFHEKRSELEEQQMHLNVGLRKIKETVDQVEELRR   3151 - 3220
DLRIKSQELEVKNAAANDKLKKMVKDQQEAEKKKVMSQEIQEQLHKQQEVIADKQMSVKEDLDKVEPAVI   3221 - 3290
EAQNAVKSIKKQHLVEVRSMANPPAAVKLALESICLLLGESTTDWKQIRSIIMRENFIPTIVNFSAEEIS   3291 - 3360
DAIREKMKKNYMSNPSYNYEIVNRASLACGPMVKWAIAQLNYADMLKRVEPLRNELQKLEDDAKDNQQKA   3361 - 3430
NEVEQMIRDLEASIARYKEEYAVLISEAQAIKADLAAVEAKVNRSTALLKSLSAERERWEKTSETFKNQM   3431 - 3500
STIAGDCLLSAAFIAYAGYFDQQMRQNLFTTWSHHLQQANIQFRTDIARTEYLSNADERLRWQASSLPAD   3501 - 3570
DLCTENAIMLKRFNRYPLIIDPSGQATEFIMNEYKDRKITRTSFLDDAFRKNLESALRFGNPLLVQDVES   3571 - 3640
YDPVLNPVLNREVRRTGGRVLITLGDQDIDLSPSFVIFLSTRDPTVEFPPDLCSRVTFVNFTVTRSSLQS   3641 - 3710
QCLNEVLKAERPDVDEKRSDLLKLQGEFQLRLRQLEKSLLQALNEVKGRILDDDTIITTLENLKREAAEV   3711 - 3780
TRKVEETDIVMQEVETVSQQYLPLSTACSSIYFTMESLKQIHFLYQYSLQFFLDIYHNVLYENPNLKGVT   3781 - 3850
DHTQRLSIITKDLFQVAFNRVARGMLHQDHITFAMLLARIKLKGTVGEPTYDAEFQHFLRGNEIVLSAGS   3851 - 3920
TPRIQGLTVEQAEAVVRLSCLPAFKDLIAKVQADEQFGIWLDSSSPEQTVPYLWSEETPATPIGQAIHRL   3921 - 3990
LLIQAFRPDRLLAMAHMFVSTNLGESFMSIMEQPLDLTHIVGTEVKPNTPVLMCSVPGYDASGHVEDLAA   3991 - 4060
EQNTQITSIAIGSAEGFNQADKAINTAVKSGRWVMLKNVHLAPGWLMQLEKKLHSLQPHACFRLFLTMEI   4061 - 4130
NPKVPVNLLRAGRIFVFEPPPGVKANMLRTFSSIPVSRICKSPNERARLYFLLAWFHAIIQERLRYAPLG   4131 - 4200
WSKKYEFGESDLRSACDTVDTWLDDTAKGRQNISPDKIPWSALKTLMAQSIYGGRVDNEFDQRLLNTFLE   4201 - 4270
RLFTTRSFDSEFKLACKVDGHKDIQMPDGIRREEFVQWVELLPDTQTPSWLGLPNNAERVLLTTQGVDMI   4271 - 4340
SKMLKMQMLEDEDDLAYAETEKKTRTDSTSDGRPAWMRTLHTTASNWLHLIPQTLSHLKRTVENIKDPLF   4341 - 4410
RFFEREVKMGAKLLQDVRQDLADVVQVCEGKKKQTNYLRTLINELVKGILPRSWSHYTVPAGMTVIQWVS   4411 - 4480
DFSERIKQLQNISLAAASGGAKELKNIHVCLGGLFVPEAYITATRQYVAQANSWSLEELCLEVNVTTSQG   4481 - 4550
ATLDACSFGVTGLKLQGATCNNNKLSLSNAISTALPLTQLRWVKQTNTEKKASVVTLPVYLNFTRADLIF   4551 - 4620
TVDFEIATKEDPRSFYERGVAVLCTE                                               4621 - 4646
//

Text Mined References (86)

PMID Year Title
26100331 2015 Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
25479096 2014 Dynein function and protein clearance changes in tumor cells induced by a Kunitz-type molecule, Amblyomin-X.
25355895 2015 Conformational changes in the adenovirus hexon subunit responsible for regulating cytoplasmic dynein recruitment.
25272277 2014 A Ras-like domain in the light intermediate chain bridges the dynein motor to a cargo-binding region.
25266423 2014 Autoinhibition and cooperative activation mechanisms of cytoplasmic dynein.
25231297 2014 HIV-1 uncoating is facilitated by dynein and kinesin 1.
25185702 2014 Dynactin functions as both a dynamic tether and brake during dynein-driven motility.
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