ID:DYHC1_HUMAN DESCRIPTION: RecName: Full=Cytoplasmic dynein 1 heavy chain 1; AltName: Full=Cytoplasmic dynein heavy chain 1; AltName: Full=Dynein heavy chain, cytosolic; FUNCTION: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. SUBUNIT: Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and dynein LCs assemble on the IC dimer. Interacts with DYNC1LI1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1LI2; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1I2 (By similarity). INTERACTION: Q9NRI5:DISC1; NbExp=3; IntAct=EBI-356015, EBI-529989; P49810:PSEN2; NbExp=3; IntAct=EBI-356015, EBI-2010251; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. DOMAIN: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly- linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function. DISEASE: Defects in DYNC1H1 are the cause of Charcot-Marie-Tooth disease type 2O (CMT2O) [MIM:614228]. CMT2O is anaxonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. DISEASE: Defects in DYNC1H1 are the cause of mental retardation autosomal dominant type 13 (MRD13) [MIM:614563]. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. DISEASE: Defects in DYNC1H1 are the cause of spinal muscular atrophy, lower extremity, autosomal dominant (SMALED) [MIM:158600]. A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED is characterized by muscle weakness predominantly affecting the proximal lower extremities. SIMILARITY: Belongs to the dynein heavy chain family. SEQUENCE CAUTION: Sequence=BAA20783.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dnch1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF03028 - Dynein heavy chain region D6 P-loop domain PF07728 - AAA domain (dynein-related subfamily) PF08385 - Dynein heavy chain, N-terminal region 1 PF08393 - Dynein heavy chain, N-terminal region 2 PF12774 - Hydrolytic ATP binding site of dynein motor region PF12775 - P-loop containing dynein motor region PF12777 - Microtubule-binding stalk of dynein motor PF12780 - P-loop containing dynein motor region D4 PF12781 - ATP-binding dynein motor region PF17852 - Dynein heavy chain AAA lid domain PF18198 - Dynein heavy chain AAA lid domain PF18199 - Dynein heavy chain C-terminal domain
ModBase Predicted Comparative 3D Structure on Q14204
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000086 G2/M transition of mitotic cell cycle GO:0006888 ER to Golgi vesicle-mediated transport GO:0007018 microtubule-based movement GO:0007049 cell cycle GO:0007052 mitotic spindle organization GO:0010389 regulation of G2/M transition of mitotic cell cycle GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0031122 cytoplasmic microtubule organization GO:0032388 positive regulation of intracellular transport GO:0033962 cytoplasmic mRNA processing body assembly GO:0034063 stress granule assembly GO:0043312 neutrophil degranulation GO:0051293 establishment of spindle localization GO:0051301 cell division GO:0060236 regulation of mitotic spindle organization GO:0072382 minus-end-directed vesicle transport along microtubule GO:0090235 regulation of metaphase plate congression GO:0097711 ciliary basal body docking
AB290157 - Homo sapiens mRNA for DYNC1H1/KIAA0325 variant protein, complete cds. AB002323 - Homo sapiens KIAA0325 mRNA for KIAA0325 protein. AB527134 - Synthetic construct DNA, clone: pF1KA0325, Homo sapiens DYNC1H1 gene for dynein, cytoplasmic 1, heavy chain 1, without stop codon, in Flexi system. AL833600 - Homo sapiens mRNA; cDNA DKFZp686G1167 (from clone DKFZp686G1167). BX648670 - Homo sapiens mRNA; cDNA DKFZp686P2245 (from clone DKFZp686P2245). AK299878 - Homo sapiens cDNA FLJ52684 complete cds, highly similar to Dynein heavy chain, cytosolic. AF234785 - Homo sapiens cytoplasmic dynein heavy chain mRNA, partial cds. U53530 - Human cytoplasmic dynein 1 heavy chain mRNA, partial cds. L23958 - Homo sapiens cytoplasmic dynein heavy chain (p22) mRNA, partial cds. AK095415 - Homo sapiens cDNA FLJ38096 fis, clone CTONG2028097, highly similar to DYNEIN HEAVY CHAIN, CYTOSOLIC. AK023747 - Homo sapiens cDNA FLJ13685 fis, clone PLACE2000039, highly similar to DYNEIN HEAVY CHAIN, CYTOSOLIC. AK056922 - Homo sapiens cDNA FLJ32360 fis, clone PROST2009022. BC021297 - Homo sapiens dynein, cytoplasmic 1, heavy chain 1, mRNA (cDNA clone IMAGE:3546415), partial cds. JD041959 - Sequence 22983 from Patent EP1572962. JD264947 - Sequence 245971 from Patent EP1572962. JD540113 - Sequence 521137 from Patent EP1572962. JD064136 - Sequence 45160 from Patent EP1572962. JD369010 - Sequence 350034 from Patent EP1572962. JD374824 - Sequence 355848 from Patent EP1572962. AK096165 - Homo sapiens cDNA FLJ38846 fis, clone MESAN2003851. BC064521 - Homo sapiens dynein, cytoplasmic 1, heavy chain 1, mRNA (cDNA clone IMAGE:5585293), complete cds. CU687888 - Synthetic construct Homo sapiens gateway clone IMAGE:100021632 5' read DYNC1H1 mRNA. KJ901392 - Synthetic construct Homo sapiens clone ccsbBroadEn_10786 DYNC1H1 gene, encodes complete protein. LF209658 - JP 2014500723-A/17161: Polycomb-Associated Non-Coding RNAs. LF330592 - JP 2014500723-A/138095: Polycomb-Associated Non-Coding RNAs. JD433879 - Sequence 414903 from Patent EP1572962. JD167996 - Sequence 149020 from Patent EP1572962. JD260213 - Sequence 241237 from Patent EP1572962. JD120891 - Sequence 101915 from Patent EP1572962. JD120892 - Sequence 101916 from Patent EP1572962. JD380578 - Sequence 361602 from Patent EP1572962. JD311689 - Sequence 292713 from Patent EP1572962. JD531585 - Sequence 512609 from Patent EP1572962. JD541875 - Sequence 522899 from Patent EP1572962. JD074151 - Sequence 55175 from Patent EP1572962. JD488197 - Sequence 469221 from Patent EP1572962. JD198400 - Sequence 179424 from Patent EP1572962. JD272036 - Sequence 253060 from Patent EP1572962. JD161042 - Sequence 142066 from Patent EP1572962. JD546625 - Sequence 527649 from Patent EP1572962. JD546626 - Sequence 527650 from Patent EP1572962. JD492303 - Sequence 473327 from Patent EP1572962. JD255881 - Sequence 236905 from Patent EP1572962. JD505270 - Sequence 486294 from Patent EP1572962. JD551221 - Sequence 532245 from Patent EP1572962. MA566169 - JP 2018138019-A/138095: Polycomb-Associated Non-Coding RNAs. MA445235 - JP 2018138019-A/17161: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q14204 (Reactome details) participates in the following event(s):
R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626220 C2CD3 binds the mother centriole R-HSA-6798751 Exocytosis of azurophil granule lumen proteins R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-141409 Mad1 binds kinetochore R-HSA-375302 Kinetochore capture of astral microtubules R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2 R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex R-HSA-141439 Release of activated MAD2 from kinetochores R-HSA-2467811 Separation of sister chromatids R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores R-HSA-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1 R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-6798695 Neutrophil degranulation R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-380287 Centrosome maturation R-HSA-5617833 Cilium Assembly R-HSA-168249 Innate Immune System R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-5663220 RHO GTPases Activate Formins R-HSA-2132295 MHC class II antigen presentation R-HSA-6807878 COPI-mediated anterograde transport R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-168256 Immune System R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-2500257 Resolution of Sister Chromatid Cohesion R-HSA-2467813 Separation of Sister Chromatids R-HSA-141424 Amplification of signal from the kinetochores R-HSA-195258 RHO GTPase Effectors R-HSA-1280218 Adaptive Immune System R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-8856688 Golgi-to-ER retrograde transport R-HSA-69278 Cell Cycle (Mitotic) R-HSA-68882 Mitotic Anaphase R-HSA-69618 Mitotic Spindle Checkpoint R-HSA-194315 Signaling by Rho GTPases R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-1640170 Cell Cycle R-HSA-2555396 Mitotic Metaphase and Anaphase R-HSA-69620 Cell Cycle Checkpoints R-HSA-162582 Signal Transduction R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
