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Entry version 202 (16 Oct 2019)
Sequence version 5 (04 Jan 2005)
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Protein

Cytoplasmic dynein 1 heavy chain 1

Gene

DYNC1H1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074).1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi1906 – 1913ATPSequence analysis8
Nucleotide bindingi2224 – 2231ATPSequence analysis8
Nucleotide bindingi2595 – 2602ATPSequence analysis8
Nucleotide bindingi2937 – 2944ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMotor protein
Biological processCell cycle, Cell division, Mitosis, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2132295 MHC class II antigen presentation
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR)
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-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-6798695 Neutrophil degranulation
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877 Mitotic Prometaphase
R-HSA-8854518 AURKA Activation by TPX2

SIGNOR Signaling Network Open Resource

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SIGNORi
Q14204

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytoplasmic dynein 1 heavy chain 1
Alternative name(s):
Cytoplasmic dynein heavy chain 1
Dynein heavy chain, cytosolic
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DYNC1H1
Synonyms:DHC1, DNCH1, DNCL, DNECL, DYHC, KIAA0325
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2961 DYNC1H1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600112 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14204

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Dynein, Microtubule

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 2O (CMT2O)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066651306H → R in CMT2O and SMALED1. 2 PublicationsCorresponds to variant dbSNP:rs387906738EnsemblClinVar.1
Natural variantiVAR_073157598R → C in CMT2O and SMALED1; slight increased BICD2-binding. 2 PublicationsCorresponds to variant dbSNP:rs587780564EnsemblClinVar.1
Natural variantiVAR_0720921194Q → R in CMT2O; impairs function. 1 Publication1
Natural variantiVAR_0720933048E → K in CMT2O; impairs function. 1 PublicationCorresponds to variant dbSNP:rs1555410941EnsemblClinVar.1
Mental retardation, autosomal dominant 13 (MRD13)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070580129K → I in MRD13. 1 Publication1
Natural variantiVAR_070581659 – 662Missing in MRD13. 1 Publication4
Natural variantiVAR_0678231518E → K in MRD13. 2 PublicationsCorresponds to variant dbSNP:rs387906740EnsemblClinVar.1
Natural variantiVAR_0705821567R → Q in MRD13. 1 PublicationCorresponds to variant dbSNP:rs797044901EnsemblClinVar.1
Natural variantiVAR_0705831962R → C in MRD13. 1 PublicationCorresponds to variant dbSNP:rs879253881EnsemblClinVar.1
Natural variantiVAR_0705843241K → T in MRD13. 1 Publication1
Natural variantiVAR_0705853336K → N in MRD13; shows a substantial reduction in the microtubule binding affinity compared to the wild-type control protein. 1 PublicationCorresponds to variant dbSNP:rs397509410EnsemblClinVar.1
Natural variantiVAR_0705863344R → Q in MRD13. 1 PublicationCorresponds to variant dbSNP:rs397509412EnsemblClinVar.1
Natural variantiVAR_0705873384R → Q in MRD13; patients manifest malformations of cortical development; shows a substantial reduction in the microtubule binding affinity compared to the wild-type control protein. 2 PublicationsCorresponds to variant dbSNP:rs397509411EnsemblClinVar.1
Natural variantiVAR_0650853822H → P in MRD13; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs387906739EnsemblClinVar.1
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073156264R → L in SMALED1; slight increased BICD2-binding. 1 PublicationCorresponds to variant dbSNP:rs713993043EnsemblClinVar.1
Natural variantiVAR_066651306H → R in CMT2O and SMALED1. 2 PublicationsCorresponds to variant dbSNP:rs387906738EnsemblClinVar.1
Natural variantiVAR_067820584I → L in SMALED1; disrupts dynein complex stability and function. 1 PublicationCorresponds to variant dbSNP:rs387906741EnsemblClinVar.1
Natural variantiVAR_073157598R → C in CMT2O and SMALED1; slight increased BICD2-binding. 2 PublicationsCorresponds to variant dbSNP:rs587780564EnsemblClinVar.1
Natural variantiVAR_067821671K → E in SMALED1. 1 PublicationCorresponds to variant dbSNP:rs387906742EnsemblClinVar.1
Natural variantiVAR_078241776P → L in SMALED1. 1 PublicationCorresponds to variant dbSNP:rs1057518083EnsemblClinVar.1
Natural variantiVAR_067822970Y → C in SMALED1. 1 PublicationCorresponds to variant dbSNP:rs387906743EnsemblClinVar.1
Natural variantiVAR_0782421132G → E in SMALED1. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Mental retardation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

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DisGeNETi
1778

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
DYNC1H1

MalaCards human disease database

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MalaCardsi
DYNC1H1
MIMi158600 phenotype
614228 phenotype
614563 phenotype

Open Targets

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OpenTargetsi
ENSG00000197102

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O
178469 Autosomal dominant non-syndromic intellectual disability
209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27432

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q14204

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
DYNC1H1

Domain mapping of disease mutations (DMDM)

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DMDMi
57015308

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001146272 – 4646Cytoplasmic dynein 1 heavy chain 1Add BLAST4645

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1
Modified residuei70PhosphoserineCombined sources1
Modified residuei1125N6-acetyllysineCombined sources1
Modified residuei1230PhosphoserineBy similarity1
Modified residuei3480N6-acetyllysineCombined sources1
Modified residuei4162PhosphoserineCombined sources1
Modified residuei4283N6-acetyllysineCombined sources1
Modified residuei4366PhosphothreonineCombined sources1
Modified residuei4368PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14204

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14204

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14204

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14204

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q14204

PeptideAtlas

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PeptideAtlasi
Q14204

PRoteomics IDEntifications database

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PRIDEi
Q14204

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59927

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q14204

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14204

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q14204

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q14204

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000197102 Expressed in 231 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14204 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14204 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB010443
HPA003742

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

Interacts with BICD2 (PubMed:25512093).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108117, 204 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q14204

Database of interacting proteins

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DIPi
DIP-37544N

Protein interaction database and analysis system

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IntActi
Q14204, 101 interactors

Molecular INTeraction database

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MINTi
Q14204

STRING: functional protein association networks

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STRINGi
9606.ENSP00000348965

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

14646
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14204

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni53 – 1867StemBy similarityAdd BLAST1815
Regioni448 – 703Interaction with DYNC1I2By similarityAdd BLAST256
Regioni651 – 802Interaction with DYNC1LI2By similarityAdd BLAST152
Regioni1868 – 2099AAA 1By similarityAdd BLAST232
Regioni2180 – 2452AAA 2By similarityAdd BLAST273
Regioni2556 – 2805AAA 3By similarityAdd BLAST250
Regioni2899 – 3168AAA 4By similarityAdd BLAST270
Regioni3189 – 3500StalkBy similarityAdd BLAST312
Regioni3553 – 3782AAA 5By similarityAdd BLAST230
Regioni4005 – 4221AAA 6By similarityAdd BLAST217

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili181 – 202Sequence analysisAdd BLAST22
Coiled coili455 – 478Sequence analysisAdd BLAST24
Coiled coili543 – 566Sequence analysisAdd BLAST24
Coiled coili1171 – 1252Sequence analysisAdd BLAST82
Coiled coili1357 – 1373Sequence analysisAdd BLAST17
Coiled coili3189 – 3275Sequence analysisAdd BLAST87
Coiled coili3396 – 3500Sequence analysisAdd BLAST105
Coiled coili3737 – 3800Sequence analysisAdd BLAST64

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3595 Eukaryota
COG5245 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156103

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000176055

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14204

KEGG Orthology (KO)

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KOi
K10413

Identification of Orthologs from Complete Genome Data

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OMAi
FAPDICS

Database of Orthologous Groups

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OrthoDBi
26380at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14204

TreeFam database of animal gene trees

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TreeFami
TF101165

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.8.720, 1 hit
1.20.140.100, 1 hit
3.20.180.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR035699 AAA_6
IPR035706 AAA_9
IPR041658 AAA_lid_11
IPR042219 AAA_lid_11_sf
IPR042228 Dynein_2_C
IPR042222 Dynein_2_N
IPR041466 Dynein_AAA5_ext
IPR041228 Dynein_C
IPR024743 Dynein_HC_stalk
IPR024317 Dynein_heavy_chain_D4_dom
IPR004273 Dynein_heavy_D6_P-loop
IPR013594 Dynein_heavy_dom-1
IPR013602 Dynein_heavy_dom-2
IPR027417 P-loop_NTPase

Pfam protein domain database

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Pfami
View protein in Pfam
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF18198 AAA_lid_11, 1 hit
PF08385 DHC_N1, 1 hit
PF08393 DHC_N2, 1 hit
PF17852 Dynein_AAA_lid, 1 hit
PF18199 Dynein_C, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382 AAA, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q14204-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSEPGGGGGE DGSAGLEVSA VQNVADVSVL QKHLRKLVPL LLEDGGEAPA
60 70 80 90 100
ALEAALEEKS ALEQMRKFLS DPQVHTVLVE RSTLKEDVGD EGEEEKEFIS
110 120 130 140 150
YNINIDIHYG VKSNSLAFIK RTPVIDADKP VSSQLRVLTL SEDSPYETLH
160 170 180 190 200
SFISNAVAPF FKSYIRESGK ADRDGDKMAP SVEKKIAELE MGLLHLQQNI
210 220 230 240 250
EIPEISLPIH PMITNVAKQC YERGEKPKVT DFGDKVEDPT FLNQLQSGVN
260 270 280 290 300
RWIREIQKVT KLDRDPASGT ALQEISFWLN LERALYRIQE KRESPEVLLT
310 320 330 340 350
LDILKHGKRF HATVSFDTDT GLKQALETVN DYNPLMKDFP LNDLLSATEL
360 370 380 390 400
DKIRQALVAI FTHLRKIRNT KYPIQRALRL VEAISRDLSS QLLKVLGTRK
410 420 430 440 450
LMHVAYEEFE KVMVACFEVF QTWDDEYEKL QVLLRDIVKR KREENLKMVW
460 470 480 490 500
RINPAHRKLQ ARLDQMRKFR RQHEQLRAVI VRVLRPQVTA VAQQNQGEVP
510 520 530 540 550
EPQDMKVAEV LFDAADANAI EEVNLAYENV KEVDGLDVSK EGTEAWEAAM
560 570 580 590 600
KRYDERIDRV ETRITARLRD QLGTAKNANE MFRIFSRFNA LFVRPHIRGA
610 620 630 640 650
IREYQTQLIQ RVKDDIESLH DKFKVQYPQS QACKMSHVRD LPPVSGSIIW
660 670 680 690 700
AKQIDRQLTA YMKRVEDVLG KGWENHVEGQ KLKQDGDSFR MKLNTQEIFD
710 720 730 740 750
DWARKVQQRN LGVSGRIFTI ESTRVRGRTG NVLKLKVNFL PEIITLSKEV
760 770 780 790 800
RNLKWLGFRV PLAIVNKAHQ ANQLYPFAIS LIESVRTYER TCEKVEERNT
810 820 830 840 850
ISLLVAGLKK EVQALIAEGI ALVWESYKLD PYVQRLAETV FNFQEKVDDL
860 870 880 890 900
LIIEEKIDLE VRSLETCMYD HKTFSEILNR VQKAVDDLNL HSYSNLPIWV
910 920 930 940 950
NKLDMEIERI LGVRLQAGLR AWTQVLLGQA EDKAEVDMDT DAPQVSHKPG
960 970 980 990 1000
GEPKIKNVVH ELRITNQVIY LNPPIEECRY KLYQEMFAWK MVVLSLPRIQ
1010 1020 1030 1040 1050
SQRYQVGVHY ELTEEEKFYR NALTRMPDGP VALEESYSAV MGIVSEVEQY
1060 1070 1080 1090 1100
VKVWLQYQCL WDMQAENIYN RLGEDLNKWQ ALLVQIRKAR GTFDNAETKK
1110 1120 1130 1140 1150
EFGPVVIDYG KVQSKVNLKY DSWHKEVLSK FGQMLGSNMT EFHSQISKSR
1160 1170 1180 1190 1200
QELEQHSVDT ASTSDAVTFI TYVQSLKRKI KQFEKQVELY RNGQRLLEKQ
1210 1220 1230 1240 1250
RFQFPPSWLY IDNIEGEWGA FNDIMRRKDS AIQQQVANLQ MKIVQEDRAV
1260 1270 1280 1290 1300
ESRTTDLLTD WEKTKPVTGN LRPEEALQAL TIYEGKFGRL KDDREKCAKA
1310 1320 1330 1340 1350
KEALELTDTG LLSGSEERVQ VALEELQDLK GVWSELSKVW EQIDQMKEQP
1360 1370 1380 1390 1400
WVSVQPRKLR QNLDALLNQL KSFPARLRQY ASYEFVQRLL KGYMKINMLV
1410 1420 1430 1440 1450
IELKSEALKD RHWKQLMKRL HVNWVVSELT LGQIWDVDLQ KNEAIVKDVL
1460 1470 1480 1490 1500
LVAQGEMALE EFLKQIREVW NTYELDLVNY QNKCRLIRGW DDLFNKVKEH
1510 1520 1530 1540 1550
INSVSAMKLS PYYKVFEEDA LSWEDKLNRI MALFDVWIDV QRRWVYLEGI
1560 1570 1580 1590 1600
FTGSADIKHL LPVETQRFQS ISTEFLALMK KVSKSPLVMD VLNIQGVQRS
1610 1620 1630 1640 1650
LERLADLLGK IQKALGEYLE RERSSFPRFY FVGDEDLLEI IGNSKNVAKL
1660 1670 1680 1690 1700
QKHFKKMFAG VSSIILNEDN SVVLGISSRE GEEVMFKTPV SITEHPKINE
1710 1720 1730 1740 1750
WLTLVEKEMR VTLAKLLAES VTEVEIFGKA TSIDPNTYIT WIDKYQAQLV
1760 1770 1780 1790 1800
VLSAQIAWSE NVETALSSMG GGGDAAPLHS VLSNVEVTLN VLADSVLMEQ
1810 1820 1830 1840 1850
PPLRRRKLEH LITELVHQRD VTRSLIKSKI DNAKSFEWLS QMRFYFDPKQ
1860 1870 1880 1890 1900
TDVLQQLSIQ MANAKFNYGF EYLGVQDKLV QTPLTDRCYL TMTQALEARL
1910 1920 1930 1940 1950
GGSPFGPAGT GKTESVKALG HQLGRFVLVF NCDETFDFQA MGRIFVGLCQ
1960 1970 1980 1990 2000
VGAWGCFDEF NRLEERMLSA VSQQVQCIQE ALREHSNPNY DKTSAPITCE
2010 2020 2030 2040 2050
LLNKQVKVSP DMAIFITMNP GYAGRSNLPD NLKKLFRSLA MTKPDRQLIA
2060 2070 2080 2090 2100
QVMLYSQGFR TAEVLANKIV PFFKLCDEQL SSQSHYDFGL RALKSVLVSA
2110 2120 2130 2140 2150
GNVKRERIQK IKREKEERGE AVDEGEIAEN LPEQEILIQS VCETMVPKLV
2160 2170 2180 2190 2200
AEDIPLLFSL LSDVFPGVQY HRGEMTALRE ELKKVCQEMY LTYGDGEEVG
2210 2220 2230 2240 2250
GMWVEKVLQL YQITQINHGL MMVGPSGSGK SMAWRVLLKA LERLEGVEGV
2260 2270 2280 2290 2300
AHIIDPKAIS KDHLYGTLDP NTREWTDGLF THVLRKIIDS VRGELQKRQW
2310 2320 2330 2340 2350
IVFDGDVDPE WVENLNSVLD DNKLLTLPNG ERLSLPPNVR IMFEVQDLKY
2360 2370 2380 2390 2400
ATLATVSRCG MVWFSEDVLS TDMIFNNFLA RLRSIPLDEG EDEAQRRRKG
2410 2420 2430 2440 2450
KEDEGEEAAS PMLQIQRDAA TIMQPYFTSN GLVTKALEHA FQLEHIMDLT
2460 2470 2480 2490 2500
RLRCLGSLFS MLHQACRNVA QYNANHPDFP MQIEQLERYI QRYLVYAILW
2510 2520 2530 2540 2550
SLSGDSRLKM RAELGEYIRR ITTVPLPTAP NIPIIDYEVS ISGEWSPWQA
2560 2570 2580 2590 2600
KVPQIEVETH KVAAPDVVVP TLDTVRHEAL LYTWLAEHKP LVLCGPPGSG
2610 2620 2630 2640 2650
KTMTLFSALR ALPDMEVVGL NFSSATTPEL LLKTFDHYCE YRRTPNGVVL
2660 2670 2680 2690 2700
APVQLGKWLV LFCDEINLPD MDKYGTQRVI SFIRQMVEHG GFYRTSDQTW
2710 2720 2730 2740 2750
VKLERIQFVG ACNPPTDPGR KPLSHRFLRH VPVVYVDYPG PASLTQIYGT
2760 2770 2780 2790 2800
FNRAMLRLIP SLRTYAEPLT AAMVEFYTMS QERFTQDTQP HYIYSPREMT
2810 2820 2830 2840 2850
RWVRGIFEAL RPLETLPVEG LIRIWAHEAL RLFQDRLVED EERRWTDENI
2860 2870 2880 2890 2900
DTVALKHFPN IDREKAMSRP ILYSNWLSKD YIPVDQEELR DYVKARLKVF
2910 2920 2930 2940 2950
YEEELDVPLV LFNEVLDHVL RIDRIFRQPQ GHLLLIGVSG AGKTTLSRFV
2960 2970 2980 2990 3000
AWMNGLSVYQ IKVHRKYTGE DFDEDLRTVL RRSGCKNEKI AFIMDESNVL
3010 3020 3030 3040 3050
DSGFLERMNT LLANGEVPGL FEGDEYATLM TQCKEGAQKE GLMLDSHEEL
3060 3070 3080 3090 3100
YKWFTSQVIR NLHVVFTMNP SSEGLKDRAA TSPALFNRCV LNWFGDWSTE
3110 3120 3130 3140 3150
ALYQVGKEFT SKMDLEKPNY IVPDYMPVVY DKLPQPPSHR EAIVNSCVFV
3160 3170 3180 3190 3200
HQTLHQANAR LAKRGGRTMA ITPRHYLDFI NHYANLFHEK RSELEEQQMH
3210 3220 3230 3240 3250
LNVGLRKIKE TVDQVEELRR DLRIKSQELE VKNAAANDKL KKMVKDQQEA
3260 3270 3280 3290 3300
EKKKVMSQEI QEQLHKQQEV IADKQMSVKE DLDKVEPAVI EAQNAVKSIK
3310 3320 3330 3340 3350
KQHLVEVRSM ANPPAAVKLA LESICLLLGE STTDWKQIRS IIMRENFIPT
3360 3370 3380 3390 3400
IVNFSAEEIS DAIREKMKKN YMSNPSYNYE IVNRASLACG PMVKWAIAQL
3410 3420 3430 3440 3450
NYADMLKRVE PLRNELQKLE DDAKDNQQKA NEVEQMIRDL EASIARYKEE
3460 3470 3480 3490 3500
YAVLISEAQA IKADLAAVEA KVNRSTALLK SLSAERERWE KTSETFKNQM
3510 3520 3530 3540 3550
STIAGDCLLS AAFIAYAGYF DQQMRQNLFT TWSHHLQQAN IQFRTDIART
3560 3570 3580 3590 3600
EYLSNADERL RWQASSLPAD DLCTENAIML KRFNRYPLII DPSGQATEFI
3610 3620 3630 3640 3650
MNEYKDRKIT RTSFLDDAFR KNLESALRFG NPLLVQDVES YDPVLNPVLN
3660 3670 3680 3690 3700
REVRRTGGRV LITLGDQDID LSPSFVIFLS TRDPTVEFPP DLCSRVTFVN
3710 3720 3730 3740 3750
FTVTRSSLQS QCLNEVLKAE RPDVDEKRSD LLKLQGEFQL RLRQLEKSLL
3760 3770 3780 3790 3800
QALNEVKGRI LDDDTIITTL ENLKREAAEV TRKVEETDIV MQEVETVSQQ
3810 3820 3830 3840 3850
YLPLSTACSS IYFTMESLKQ IHFLYQYSLQ FFLDIYHNVL YENPNLKGVT
3860 3870 3880 3890 3900
DHTQRLSIIT KDLFQVAFNR VARGMLHQDH ITFAMLLARI KLKGTVGEPT
3910 3920 3930 3940 3950
YDAEFQHFLR GNEIVLSAGS TPRIQGLTVE QAEAVVRLSC LPAFKDLIAK
3960 3970 3980 3990 4000
VQADEQFGIW LDSSSPEQTV PYLWSEETPA TPIGQAIHRL LLIQAFRPDR
4010 4020 4030 4040 4050
LLAMAHMFVS TNLGESFMSI MEQPLDLTHI VGTEVKPNTP VLMCSVPGYD
4060 4070 4080 4090 4100
ASGHVEDLAA EQNTQITSIA IGSAEGFNQA DKAINTAVKS GRWVMLKNVH
4110 4120 4130 4140 4150
LAPGWLMQLE KKLHSLQPHA CFRLFLTMEI NPKVPVNLLR AGRIFVFEPP
4160 4170 4180 4190 4200
PGVKANMLRT FSSIPVSRIC KSPNERARLY FLLAWFHAII QERLRYAPLG
4210 4220 4230 4240 4250
WSKKYEFGES DLRSACDTVD TWLDDTAKGR QNISPDKIPW SALKTLMAQS
4260 4270 4280 4290 4300
IYGGRVDNEF DQRLLNTFLE RLFTTRSFDS EFKLACKVDG HKDIQMPDGI
4310 4320 4330 4340 4350
RREEFVQWVE LLPDTQTPSW LGLPNNAERV LLTTQGVDMI SKMLKMQMLE
4360 4370 4380 4390 4400
DEDDLAYAET EKKTRTDSTS DGRPAWMRTL HTTASNWLHL IPQTLSHLKR
4410 4420 4430 4440 4450
TVENIKDPLF RFFEREVKMG AKLLQDVRQD LADVVQVCEG KKKQTNYLRT
4460 4470 4480 4490 4500
LINELVKGIL PRSWSHYTVP AGMTVIQWVS DFSERIKQLQ NISLAAASGG
4510 4520 4530 4540 4550
AKELKNIHVC LGGLFVPEAY ITATRQYVAQ ANSWSLEELC LEVNVTTSQG
4560 4570 4580 4590 4600
ATLDACSFGV TGLKLQGATC NNNKLSLSNA ISTALPLTQL RWVKQTNTEK
4610 4620 4630 4640
KASVVTLPVY LNFTRADLIF TVDFEIATKE DPRSFYERGV AVLCTE
Length:4,646
Mass (Da):532,408
Last modified:January 4, 2005 - v5
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD4D4E15DFBDE4797
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YFZ7A0A2R8YFZ7_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
1,686Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y706A0A2R8Y706_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
1,942Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y542A0A2R8Y542_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
1,076Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5T0A0A2R8Y5T0_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
1,476Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGC7A0A2R8YGC7_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
421Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ21H0YJ21_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
309Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6H2A0A2R8Y6H2_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
1,400Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6I5A0A2R8Y6I5_HUMAN
Cytoplasmic dynein 1 heavy chain 1
DYNC1H1
355Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA20783 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1778 – 1779LH → SD in AAB09727 (PubMed:8666668).Curated2
Sequence conflicti1941M → R in AAB09727 (PubMed:8666668).Curated1
Sequence conflicti2025R → N in AAB09727 (PubMed:8666668).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07315594E → K Found in a patient with spinal muscular atrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_070580129K → I in MRD13. 1 Publication1
Natural variantiVAR_069437142E → A1 Publication1
Natural variantiVAR_073156264R → L in SMALED1; slight increased BICD2-binding. 1 PublicationCorresponds to variant dbSNP:rs713993043EnsemblClinVar.1
Natural variantiVAR_066651306H → R in CMT2O and SMALED1. 2 PublicationsCorresponds to variant dbSNP:rs387906738EnsemblClinVar.1
Natural variantiVAR_067820584I → L in SMALED1; disrupts dynein complex stability and function. 1 PublicationCorresponds to variant dbSNP:rs387906741EnsemblClinVar.1
Natural variantiVAR_073157598R → C in CMT2O and SMALED1; slight increased BICD2-binding. 2 PublicationsCorresponds to variant dbSNP:rs587780564EnsemblClinVar.1
Natural variantiVAR_070581659 – 662Missing in MRD13. 1 Publication4
Natural variantiVAR_067821671K → E in SMALED1. 1 PublicationCorresponds to variant dbSNP:rs387906742EnsemblClinVar.1
Natural variantiVAR_078241776P → L in SMALED1. 1 PublicationCorresponds to variant dbSNP:rs1057518083EnsemblClinVar.1
Natural variantiVAR_067822970Y → C in SMALED1. 1 PublicationCorresponds to variant dbSNP:rs387906743EnsemblClinVar.1
Natural variantiVAR_0782421132G → E in SMALED1. 1 Publication1
Natural variantiVAR_0720921194Q → R in CMT2O; impairs function. 1 Publication1
Natural variantiVAR_0694381250V → L1 PublicationCorresponds to variant dbSNP:rs369914512Ensembl.1
Natural variantiVAR_0678231518E → K in MRD13. 2 PublicationsCorresponds to variant dbSNP:rs387906740EnsemblClinVar.1
Natural variantiVAR_0705821567R → Q in MRD13. 1 PublicationCorresponds to variant dbSNP:rs797044901EnsemblClinVar.1
Natural variantiVAR_0705831962R → C in MRD13. 1 PublicationCorresponds to variant dbSNP:rs879253881EnsemblClinVar.1
Natural variantiVAR_0694392247V → M1 PublicationCorresponds to variant dbSNP:rs1064796963EnsemblClinVar.1
Natural variantiVAR_0720933048E → K in CMT2O; impairs function. 1 PublicationCorresponds to variant dbSNP:rs1555410941EnsemblClinVar.1
Natural variantiVAR_0705843241K → T in MRD13. 1 Publication1
Natural variantiVAR_0705853336K → N in MRD13; shows a substantial reduction in the microtubule binding affinity compared to the wild-type control protein. 1 PublicationCorresponds to variant dbSNP:rs397509410EnsemblClinVar.1
Natural variantiVAR_0705863344R → Q in MRD13. 1 PublicationCorresponds to variant dbSNP:rs397509412EnsemblClinVar.1
Natural variantiVAR_0705873384R → Q in MRD13; patients manifest malformations of cortical development; shows a substantial reduction in the microtubule binding affinity compared to the wild-type control protein. 2 PublicationsCorresponds to variant dbSNP:rs397509411EnsemblClinVar.1
Natural variantiVAR_0650853822H → P in MRD13; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs387906739EnsemblClinVar.1
Natural variantiVAR_0208893902D → N1 PublicationCorresponds to variant dbSNP:rs17512818Ensembl.1
Natural variantiVAR_0208904029H → Q2 PublicationsCorresponds to variant dbSNP:rs10129889EnsemblClinVar.1
Natural variantiVAR_0694404143R → C1 PublicationCorresponds to variant dbSNP:rs1316357429Ensembl.1
Natural variantiVAR_0694414285A → S1 PublicationCorresponds to variant dbSNP:rs749486351EnsemblClinVar.1
Natural variantiVAR_0694424421A → T1 PublicationCorresponds to variant dbSNP:rs376492799EnsemblClinVar.1
Natural variantiVAR_0694434507I → S1 Publication1
Natural variantiVAR_0694444603S → G1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB002323 mRNA Translation: BAA20783.3 Different initiation.
AB290157 mRNA Translation: BAG06711.1
AY682080 Genomic DNA Translation: AAT74625.1
U53530 mRNA Translation: AAB09727.1
L23958 mRNA Translation: AAA16065.1
BC021297 mRNA Translation: AAH21297.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9966.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A49019
G02529

NCBI Reference Sequences

More...
RefSeqi
NP_001367.2, NM_001376.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000360184; ENSP00000348965; ENSG00000197102

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1778

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1778

UCSC genome browser

More...
UCSCi
uc001yks.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002323 mRNA Translation: BAA20783.3 Different initiation.
AB290157 mRNA Translation: BAG06711.1
AY682080 Genomic DNA Translation: AAT74625.1
U53530 mRNA Translation: AAB09727.1
L23958 mRNA Translation: AAA16065.1
BC021297 mRNA Translation: AAH21297.2
CCDSiCCDS9966.1
PIRiA49019
G02529
RefSeqiNP_001367.2, NM_001376.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2BORmodel-A3200-3299[»]
B3398-3497[»]
2BOTmodel-A3197-3296[»]
B3398-3497[»]
5NUGelectron microscopy3.80A/B1-4646[»]
5OWOX-ray1.79A/B/C/D1-201[»]
6F1Telectron microscopy3.50e/f/m/n1-1053[»]
6F1Uelectron microscopy3.40f/m/n1-1186[»]
6F1Velectron microscopy3.40f/m1-1186[»]
6F1Yelectron microscopy3.40f780-927[»]
6F38electron microscopy6.70e/f/m/n1-1455[»]
6F3Aelectron microscopy8.20e/f1-1455[»]
SMRiQ14204
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi108117, 204 interactors
CORUMiQ14204
DIPiDIP-37544N
IntActiQ14204, 101 interactors
MINTiQ14204
STRINGi9606.ENSP00000348965

PTM databases

CarbonylDBiQ14204
iPTMnetiQ14204
PhosphoSitePlusiQ14204
SwissPalmiQ14204

Polymorphism and mutation databases

BioMutaiDYNC1H1
DMDMi57015308

Proteomic databases

EPDiQ14204
jPOSTiQ14204
MassIVEiQ14204
MaxQBiQ14204
PaxDbiQ14204
PeptideAtlasiQ14204
PRIDEiQ14204
ProteomicsDBi59927

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
1778

Genome annotation databases

EnsembliENST00000360184; ENSP00000348965; ENSG00000197102
GeneIDi1778
KEGGihsa:1778
UCSCiuc001yks.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1778
DisGeNETi1778

GeneCards: human genes, protein and diseases

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GeneCardsi
DYNC1H1
GeneReviewsiDYNC1H1
HGNCiHGNC:2961 DYNC1H1
HPAiCAB010443
HPA003742
MalaCardsiDYNC1H1
MIMi158600 phenotype
600112 gene
614228 phenotype
614563 phenotype
neXtProtiNX_Q14204
OpenTargetsiENSG00000197102
Orphaneti284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O
178469 Autosomal dominant non-syndromic intellectual disability
209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
PharmGKBiPA27432

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3595 Eukaryota
COG5245 LUCA
GeneTreeiENSGT00940000156103
HOGENOMiHOG000176055
InParanoidiQ14204
KOiK10413
OMAiFAPDICS
OrthoDBi26380at2759
PhylomeDBiQ14204
TreeFamiTF101165

Enzyme and pathway databases

ReactomeiR-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2132295 MHC class II antigen presentation
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR)
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-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-6798695 Neutrophil degranulation
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877 Mitotic Prometaphase
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiQ14204

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DYNC1H1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DYNC1H1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1778
PharosiQ14204

Protein Ontology

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PROi
PR:Q14204

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000197102 Expressed in 231 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ14204 baseline and differential
GenevisibleiQ14204 HS

Family and domain databases

Gene3Di1.10.8.720, 1 hit
1.20.140.100, 1 hit
3.20.180.20, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR035699 AAA_6
IPR035706 AAA_9
IPR041658 AAA_lid_11
IPR042219 AAA_lid_11_sf
IPR042228 Dynein_2_C
IPR042222 Dynein_2_N
IPR041466 Dynein_AAA5_ext
IPR041228 Dynein_C
IPR024743 Dynein_HC_stalk
IPR024317 Dynein_heavy_chain_D4_dom
IPR004273 Dynein_heavy_D6_P-loop
IPR013594 Dynein_heavy_dom-1
IPR013602 Dynein_heavy_dom-2
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF18198 AAA_lid_11, 1 hit
PF08385 DHC_N1, 1 hit
PF08393 DHC_N2, 1 hit
PF17852 Dynein_AAA_lid, 1 hit
PF18199 Dynein_C, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 4 hits
SUPFAMiSSF52540 SSF52540, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDYHC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14204
Secondary accession number(s): B0I1R0
, Q6DKQ7, Q8WU28, Q92814, Q9Y4G5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 4, 2005
Last modified: October 16, 2019
This is version 202 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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