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Entry version 139 (13 Feb 2019)
Sequence version 4 (02 Nov 2010)
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Protein

Cytoplasmic dynein 2 heavy chain 1

Gene

DYNC2H1

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

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi145 – 152ATPSequence analysis8
Nucleotide bindingi1689 – 1696ATPSequence analysis8
Nucleotide bindingi1979 – 1986ATPSequence analysis8
Nucleotide bindingi2291 – 2298ATPSequence analysis8
Nucleotide bindingi2655 – 2662ATPSequence 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

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent microtubule motor activity, minus-end-directed Source: GO_Central
  • dynein intermediate chain binding Source: GO_Central
  • dynein light chain binding Source: GO_Central
  • dynein light intermediate chain binding Source: GO_Central
  • motor activity Source: UniProtKB

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 functionDevelopmental protein, Motor protein
Biological processCilium biogenesis/degradation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

<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 2 heavy chain 1
Alternative name(s):
Cytoplasmic dynein 2 heavy chain
Dynein cytoplasmic heavy chain 2
Dynein heavy chain 11
Short name:
hDHC11
Dynein heavy chain isotype 1B
<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:DYNC2H1
Synonyms:DHC1B, DHC2, DNCH2, DYH1B, KIAA1997
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000187240.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2962 DYNC2H1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603297 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NCM8

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Membrane, 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

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).1 Publication
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:613091
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_063242209F → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs771511132EnsemblClinVar.1
Natural variantiVAR_069591330R → C in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs397514637EnsemblClinVar.1
Natural variantiVAR_069592338R → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1322077043Ensembl.1
Natural variantiVAR_069593430R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs374073337EnsemblClinVar.1
Natural variantiVAR_069594495K → R in SRTD3. 1 Publication1
Natural variantiVAR_063243587R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853030EnsemblClinVar.1
Natural variantiVAR_069595871L → P in SRTD3. 1 Publication1
Natural variantiVAR_0695961228L → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs189806840EnsemblClinVar.1
Natural variantiVAR_0632441240I → T in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853028EnsemblClinVar.1
Natural variantiVAR_0695971379M → V in SRTD3. 1 Publication1
Natural variantiVAR_0695981423R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs745870321EnsemblClinVar.1
Natural variantiVAR_0695991442G → D in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs763571787Ensembl.1
Natural variantiVAR_0632451537Q → R in SRTD3. Corresponds to variant dbSNP:rs137853033EnsemblClinVar.1
Natural variantiVAR_0632461987T → A in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853035EnsemblClinVar.1
Natural variantiVAR_0696001991M → K in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1202784860Ensembl.1
Natural variantiVAR_0632471991M → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853025EnsemblClinVar.1
Natural variantiVAR_0632482205R → H in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853031EnsemblClinVar.1
Natural variantiVAR_0696012227M → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs750249486Ensembl.1
Natural variantiVAR_0696022304A → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs747348765EnsemblClinVar.1
Natural variantiVAR_0696032362N → S in SRTD3. 1 Publication1
Natural variantiVAR_0632492461G → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853034EnsemblClinVar.1
Natural variantiVAR_0696042481R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs781326398Ensembl.1
Natural variantiVAR_0696052496P → S in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514636EnsemblClinVar.1
Natural variantiVAR_0696062532R → W in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1350329646Ensembl.1
Natural variantiVAR_0696072555V → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs746195428EnsemblClinVar.1
Natural variantiVAR_0696082573Y → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1278825521Ensembl.1
Natural variantiVAR_0696092640I → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1265669915Ensembl.1
Natural variantiVAR_0696102662R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514635EnsemblClinVar.1
Natural variantiVAR_0696112819I → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1060501431Ensembl.1
Natural variantiVAR_0632503015D → G in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853027EnsemblClinVar.1
Natural variantiVAR_0696123381P → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs368631447Ensembl.1
Natural variantiVAR_0632513762L → V in SRTD3. 1 Publication1
Natural variantiVAR_0696133806R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs754753584Ensembl.1
Natural variantiVAR_0696143847W → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs752554582Ensembl.1
Natural variantiVAR_0696164232L → R in SRTD3. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
79659

MalaCards human disease database

More...
MalaCardsi
DYNC2H1
MIMi613091 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000187240

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

More...
Orphaneti
474 Jeune syndrome
93269 Short rib-polydactyly syndrome, Majewski type
93270 Short rib-polydactyly syndrome, Saldino-Noonan type
93271 Short rib-polydactyly syndrome, Verma-Naumoff type

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DYNC2H1

Domain mapping of disease mutations (DMDM)

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DMDMi
311033479

<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 ‘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_00003187431 – 4307Cytoplasmic dynein 2 heavy chain 1Add BLAST4307

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NCM8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NCM8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NCM8

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

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PaxDbi
Q8NCM8

PeptideAtlas

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PeptideAtlasi
Q8NCM8

PRoteomics IDEntifications database

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PRIDEi
Q8NCM8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72909
72910 [Q8NCM8-2]
72911 [Q8NCM8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8NCM8

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

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PhosphoSitePlusi
Q8NCM8

<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
ENSG00000187240 Expressed in 178 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NCM8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NCM8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039015
HPA039016

<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

The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122785, 34 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8NCM8

Protein interaction database and analysis system

More...
IntActi
Q8NCM8, 21 interactors

Molecular INTeraction database

More...
MINTi
Q8NCM8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000381167

<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

14307
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
4RH7X-ray3.41A1091-4307[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8NCM8

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

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SMRi
Q8NCM8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Regioni1 – 1650StemBy similarityAdd BLAST1650
Regioni1651 – 1875AAA 1By similarityAdd BLAST225
Regioni1938 – 2161AAA 2By similarityAdd BLAST224
Regioni2251 – 2505AAA 3By similarityAdd BLAST255
Regioni2617 – 2863AAA 4By similarityAdd BLAST247
Regioni2881 – 3169StalkBy similarityAdd BLAST289
Regioni3244 – 3473AAA 5By similarityAdd BLAST230
Regioni3690 – 3905AAA 6By similarityAdd BLAST216

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 coili1074 – 1103Sequence analysisAdd BLAST30
Coiled coili2897 – 2982Sequence analysisAdd BLAST86
Coiled coili3109 – 3200Sequence analysisAdd BLAST92
Coiled coili3408 – 3442Sequence analysisAdd BLAST35

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3595 Eukaryota
COG5245 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154620

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG107832

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NCM8

KEGG Orthology (KO)

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KOi
K10414

Identification of Orthologs from Complete Genome Data

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OMAi
ANAHRAW

Database of Orthologous Groups

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OrthoDBi
926106at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NCM8

TreeFam database of animal gene trees

More...
TreeFami
TF315251

Family and domain databases

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
IPR026983 DHC_fam
IPR026815 DYNC2H1
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

The PANTHER Classification System

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PANTHERi
PTHR10676 PTHR10676, 1 hit
PTHR10676:SF352 PTHR10676:SF352, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF08385 DHC_N1, 1 hit
PF08393 DHC_N2, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 3 hits

Superfamily database of structural and functional annotation

More...
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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NCM8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML
60 70 80 90 100
LRVQRSDAGI SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM
110 120 130 140 150
LESPISSLYQ AVRQVFAPML LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR
160 170 180 190 200
RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI EQAHRGNKQI SKERANYFKE
210 220 230 240 250
LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH DHYPESRMLH
260 270 280 290 300
LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
310 320 330 340 350
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA
360 370 380 390 400
SEEKIICLTR VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA
410 420 430 440 450
GKLKNYISEI QDSPQQLLQA FLKYKELVKR PTISKELMLE RETLLARLVD
460 470 480 490 500
SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS EVVNSIVWVR QLELKVDDTI
510 520 530 540 550
KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR DIQSGLSDSR
560 570 580 590 600
SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
610 620 630 640 650
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII
660 670 680 690 700
KNSKAGSGGK SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC
710 720 730 740 750
EKVVVLMNID LLRQQQRWKD GLQELRTGLA TVEAQGFQAS DMHAWKQHWN
760 770 780 790 800
HQLYKALEHQ YQMGLEALNE NLPEINIDLT YKQGRLQFRP PFEEIRAKYY
810 820 830 840 850
REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF SKAEDLFRRL
860 870 880 890 900
SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
910 920 930 940 950
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT
960 970 980 990 1000
EAMEVLTIMP QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV
1010 1020 1030 1040 1050
AGGGLETISN LKAKWDKFEL MMESHQLMIK DQIEVMKGNV KSRLQIYYQE
1060 1070 1080 1090 1100
LEKFKARWDQ LKPGDDVIET GQHNTLDKSA KLIKEKKIEF DDLEVTRKKL
1110 1120 1130 1140 1150
VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG FQEMANEDWI
1160 1170 1180 1190 1200
TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
1210 1220 1230 1240 1250
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL
1260 1270 1280 1290 1300
NSRAQGEVTI REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN
1310 1320 1330 1340 1350
QVGDNRCLLQ SLKDSPYYKG FEDKVSIWER KLAELDEYLQ NLNHIQRKWV
1360 1370 1380 1390 1400
YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT DIKKDNRVTT LTTHAGIRNS
1410 1420 1430 1440 1450
LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI LGQSTNPSVI
1460 1470 1480 1490 1500
QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
1510 1520 1530 1540 1550
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED
1560 1570 1580 1590 1600
VENAIKDHSL HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI
1610 1620 1630 1640 1650
LDIIHNIDVV KQLNQIQVHT TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ
1660 1670 1680 1690 1700
YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK MGLGGNPYGP AGTGKTESVK
1710 1720 1730 1740 1750
ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF DEFNRLEESV
1760 1770 1780 1790 1800
LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
1810 1820 1830 1840 1850
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN
1860 1870 1880 1890 1900
LSRELLTPQQ HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ
1910 1920 1930 1940 1950
ALRLNTMSKF TFTDCTRFDA LIKDVFPGIE LKEVEYDELS AALKQVFEEA
1960 1970 1980 1990 2000
NYEIIPNQIK KALELYEQLC QRMGVVIVGP SGAGKSTLWR MLRAALCKTG
2010 2020 2030 2040 2050
KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ VVREPQDVSS
2060 2070 2080 2090 2100
WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
2110 2120 2130 2140 2150
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE
2160 2170 2180 2190 2200
KALQWVLKQN DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL
2210 2220 2230 2240 2250
NMKSRLEFTK EVFHWARESP PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT
2260 2270 2280 2290 2300
ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS SDTKQPFILV GPEGCGKGML
2310 2320 2330 2340 2350
LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST NTGRVYRPKD
2360 2370 2380 2390 2400
CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
2410 2420 2430 2440 2450
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL
2460 2470 2480 2490 2500
HKNLKNHSIW GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT
2510 2520 2530 2540 2550
QWVLGLFRYD LEGGSSNHPL DYVLEIVAYE ARRLFRDKIV GAKELHLFDI
2560 2570 2580 2590 2600
ILTSVFQGDW GSDILDNMSD SFYVTWGARH NSGARAAPGQ PLPPHGKPLG
2610 2620 2630 2640 2650
KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI DRVLSFPGGS
2660 2670 2680 2690 2700
LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
2710 2720 2730 2740 2750
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP
2760 2770 2780 2790 2800
LKDQASQDGF FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH
2810 2820 2830 2840 2850
KKCQVLWMEG WSNSSMKKIP EMLFSETGGG EKYNDKKRKE EKKKNSVDPD
2860 2870 2880 2890 2900
FLKSFLLIHE SCKAYGATPS RYMTFLHVYS AISSSKKKEL LKRQSHLQAG
2910 2920 2930 2940 2950
VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT VSMQDASEQK
2960 2970 2980 2990 3000
TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
3010 3020 3030 3040 3050
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF
3060 3070 3080 3090 3100
DARNISKEIR ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS
3110 3120 3130 3140 3150
HVLERIHPLE TEQAGLESNL KKTEDRKRKL EELLNSVGQK VSELKEKFQS
3160 3170 3180 3190 3200
RTSEAAKLEA EVSKAQETIK AAEVLINQLD REHKRWNAQV VEITEELATL
3210 3220 3230 3240 3250
PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL RRFLCTESEQ
3260 3270 3280 3290 3300
LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
3310 3320 3330 3340 3350
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR
3360 3370 3380 3390 3400
YVVQIGDKII DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR
3410 3420 3430 3440 3450
GQLLALTIQH EKPDLEEQKT KLLQQEEDKK IQLAKLEESL LETLATSQGN
3460 3470 3480 3490 3500
ILENKDLIES LNQTKASSAL IQESLKESYK LQISLDQERD AYLPLAESAS
3510 3520 3530 3540 3550
KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT EQRIQSLISS
3560 3570 3580 3590 3600
LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
3610 3620 3630 3640 3650
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT
3660 3670 3680 3690 3700
YYNNSMCEQE FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL
3710 3720 3730 3740 3750
KEVSPLPLNL KRLYKETLEI EPILIIISPG ADPSQELQEL ANAERSGECY
3760 3770 3780 3790 3800
HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK NLHLVVSWLP VLEKELNTLQ
3810 3820 3830 3840 3850
PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL MRTYESWTPE
3860 3870 3880 3890 3900
QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
3910 3920 3930 3940 3950
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS
3960 3970 3980 3990 4000
SVIDVFNQRN KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA
4010 4020 4030 4040 4050
NIARSSQRMI SSQVISQLRI LGRSITAGSK FDREIWSNEL SPVLNLWKKL
4060 4070 4080 4090 4100
NQNSNLIHQK VPPPNDRQGS PILSFIILEQ FNAIRLVQSV HQSLAALSKV
4110 4120 4130 4140 4150
IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY LRGLVARALA
4160 4170 4180 4190 4200
IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
4210 4220 4230 4240 4250
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM
4260 4270 4280 4290 4300
GWIPQDACGP YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA

ALFLKNQ
Length:4,307
Mass (Da):492,622
Last modified:November 2, 2010 - v4
<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:i54B60DEE419B7E9D
GO
Isoform 2 (identifier: Q8NCM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3273-3273: Q → QIIGLKSW

Note: No experimental confirmation available.
Show »
Length:4,314
Mass (Da):493,420
Checksum:i5727DDAAA0693332
GO
Isoform 3 (identifier: Q8NCM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     736-4122: Missing.

Note: No experimental confirmation available.
Show »
Length:920
Mass (Da):105,369
Checksum:i6CBCEEF9DEF5869D
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IT36A0A3B3IT36_HUMAN
Cytoplasmic dynein 2 heavy chain 1
DYNC2H1
751Annotation 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>
A0A3B3ISP9A0A3B3ISP9_HUMAN
Cytoplasmic dynein 2 heavy chain 1
DYNC2H1
1,255Annotation 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>
H0YDE0H0YDE0_HUMAN
Cytoplasmic dynein 2 heavy chain 1
DYNC2H1
378Annotation 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>
H0YEX1H0YEX1_HUMAN
Cytoplasmic dynein 2 heavy chain 1
DYNC2H1
224Annotation 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 BAB13905 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04578 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18598 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti174D → G in BAE17138 (Ref. 1) Curated1
Sequence conflicti178F → L in BAE17138 (Ref. 1) Curated1
Sequence conflicti594F → L in BAE17138 (Ref. 1) Curated1
Sequence conflicti1120I → N in AAB09728 (PubMed:8666668).Curated1
Sequence conflicti1168D → V in AAB09728 (PubMed:8666668).Curated1
Sequence conflicti1784N → H in CAB06054 (PubMed:9373155).Curated1
Sequence conflicti1864W → Y in CAB06054 (PubMed:9373155).Curated1
Sequence conflicti1866 – 1867LR → FS in CAB06054 (PubMed:9373155).Curated2
Sequence conflicti1930E → K in BAE46899 (Ref. 1) Curated1
Sequence conflicti3095A → V in CAD98012 (PubMed:17974005).Curated1
Sequence conflicti3665L → P in CAD98012 (PubMed:17974005).Curated1
Sequence conflicti4258C → R in BAB13905 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063242209F → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs771511132EnsemblClinVar.1
Natural variantiVAR_038862302T → P. Corresponds to variant dbSNP:rs12803695Ensembl.1
Natural variantiVAR_038863304Q → L. Corresponds to variant dbSNP:rs12146610EnsemblClinVar.1
Natural variantiVAR_069591330R → C in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs397514637EnsemblClinVar.1
Natural variantiVAR_069592338R → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1322077043Ensembl.1
Natural variantiVAR_038864341H → Y. Corresponds to variant dbSNP:rs17301182EnsemblClinVar.1
Natural variantiVAR_069593430R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs374073337EnsemblClinVar.1
Natural variantiVAR_038865456R → Q. Corresponds to variant dbSNP:rs17099969EnsemblClinVar.1
Natural variantiVAR_069594495K → R in SRTD3. 1 Publication1
Natural variantiVAR_063243587R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853030EnsemblClinVar.1
Natural variantiVAR_038866789R → K. Corresponds to variant dbSNP:rs7358374Ensembl.1
Natural variantiVAR_069595871L → P in SRTD3. 1 Publication1
Natural variantiVAR_0388671221R → K. Corresponds to variant dbSNP:rs12794914Ensembl.1
Natural variantiVAR_0695961228L → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs189806840EnsemblClinVar.1
Natural variantiVAR_0632441240I → T in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853028EnsemblClinVar.1
Natural variantiVAR_0388681288T → A. Corresponds to variant dbSNP:rs17301750EnsemblClinVar.1
Natural variantiVAR_0695971379M → V in SRTD3. 1 Publication1
Natural variantiVAR_0388691413K → R1 PublicationCorresponds to variant dbSNP:rs688906EnsemblClinVar.1
Natural variantiVAR_0695981423R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs745870321EnsemblClinVar.1
Natural variantiVAR_0695991442G → D in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs763571787Ensembl.1
Natural variantiVAR_0632451537Q → R in SRTD3. Corresponds to variant dbSNP:rs137853033EnsemblClinVar.1
Natural variantiVAR_0632461987T → A in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853035EnsemblClinVar.1
Natural variantiVAR_0696001991M → K in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1202784860Ensembl.1
Natural variantiVAR_0632471991M → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853025EnsemblClinVar.1
Natural variantiVAR_0632482205R → H in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853031EnsemblClinVar.1
Natural variantiVAR_0696012227M → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs750249486Ensembl.1
Natural variantiVAR_0696022304A → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs747348765EnsemblClinVar.1
Natural variantiVAR_0696032362N → S in SRTD3. 1 Publication1
Natural variantiVAR_0632492461G → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853034EnsemblClinVar.1
Natural variantiVAR_0696042481R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs781326398Ensembl.1
Natural variantiVAR_0696052496P → S in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514636EnsemblClinVar.1
Natural variantiVAR_0696062532R → W in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1350329646Ensembl.1
Natural variantiVAR_0696072555V → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs746195428EnsemblClinVar.1
Natural variantiVAR_0696082573Y → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1278825521Ensembl.1
Natural variantiVAR_0696092640I → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1265669915Ensembl.1
Natural variantiVAR_0696102662R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514635EnsemblClinVar.1
Natural variantiVAR_0696112819I → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1060501431Ensembl.1
Natural variantiVAR_0388702871R → Q2 PublicationsCorresponds to variant dbSNP:rs589623EnsemblClinVar.1
Natural variantiVAR_0632503015D → G in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853027EnsemblClinVar.1
Natural variantiVAR_0696123381P → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs368631447Ensembl.1
Natural variantiVAR_0388713680A → V1 PublicationCorresponds to variant dbSNP:rs10895391Ensembl.1
Natural variantiVAR_0632513762L → V in SRTD3. 1 Publication1
Natural variantiVAR_0696133806R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs754753584Ensembl.1
Natural variantiVAR_0696143847W → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs752554582Ensembl.1
Natural variantiVAR_0696153909G → D Probable disease-associated mutation found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. 1 PublicationCorresponds to variant dbSNP:rs201479015Ensembl.1
Natural variantiVAR_0388723976S → N. Corresponds to variant dbSNP:rs4754914Ensembl.1
Natural variantiVAR_0388734139Q → P. Corresponds to variant dbSNP:rs1793493Ensembl.1
Natural variantiVAR_0696164232L → R in SRTD3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_031282736 – 4122Missing in isoform 3. 1 PublicationAdd BLAST3387
Alternative sequenceiVSP_0312833273Q → QIIGLKSW in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB231765 mRNA Translation: BAE46899.1
AB231766 mRNA Translation: BAE17138.1
AP000817 Genomic DNA No translation available.
AP001486 Genomic DNA No translation available.
AP002829 Genomic DNA No translation available.
AP002961 Genomic DNA No translation available.
AP003382 Genomic DNA No translation available.
AP003461 Genomic DNA No translation available.
AK021818 mRNA Translation: BAB13905.1 Different initiation.
AK095579 mRNA Translation: BAC04578.1 Different initiation.
AK125524 mRNA Translation: BAC86194.1
AK131453 mRNA Translation: BAD18598.1 Different initiation.
U53531 mRNA Translation: AAB09728.1
U20552 mRNA Translation: AAB50020.1
Z83800 mRNA Translation: CAB06054.1
BX538093 mRNA Translation: CAD98012.1
AB082528 mRNA Translation: BAC02706.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44717.1 [Q8NCM8-2]
CCDS53701.1 [Q8NCM8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001073932.1, NM_001080463.1 [Q8NCM8-2]
NP_001368.2, NM_001377.2 [Q8NCM8-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.503721

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000334267; ENSP00000334021; ENSG00000187240 [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240 [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240 [Q8NCM8-2]
ENST00000649997; ENSP00000496872; ENSG00000187240 [Q8NCM8-1]
ENST00000650373; ENSP00000497174; ENSG00000187240 [Q8NCM8-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79659

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79659

UCSC genome browser

More...
UCSCi
uc001phn.2 human [Q8NCM8-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231765 mRNA Translation: BAE46899.1
AB231766 mRNA Translation: BAE17138.1
AP000817 Genomic DNA No translation available.
AP001486 Genomic DNA No translation available.
AP002829 Genomic DNA No translation available.
AP002961 Genomic DNA No translation available.
AP003382 Genomic DNA No translation available.
AP003461 Genomic DNA No translation available.
AK021818 mRNA Translation: BAB13905.1 Different initiation.
AK095579 mRNA Translation: BAC04578.1 Different initiation.
AK125524 mRNA Translation: BAC86194.1
AK131453 mRNA Translation: BAD18598.1 Different initiation.
U53531 mRNA Translation: AAB09728.1
U20552 mRNA Translation: AAB50020.1
Z83800 mRNA Translation: CAB06054.1
BX538093 mRNA Translation: CAD98012.1
AB082528 mRNA Translation: BAC02706.2
CCDSiCCDS44717.1 [Q8NCM8-2]
CCDS53701.1 [Q8NCM8-1]
RefSeqiNP_001073932.1, NM_001080463.1 [Q8NCM8-2]
NP_001368.2, NM_001377.2 [Q8NCM8-1]
UniGeneiHs.503721

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RH7X-ray3.41A1091-4307[»]
ProteinModelPortaliQ8NCM8
SMRiQ8NCM8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122785, 34 interactors
CORUMiQ8NCM8
IntActiQ8NCM8, 21 interactors
MINTiQ8NCM8
STRINGi9606.ENSP00000381167

PTM databases

iPTMnetiQ8NCM8
PhosphoSitePlusiQ8NCM8

Polymorphism and mutation databases

BioMutaiDYNC2H1
DMDMi311033479

Proteomic databases

EPDiQ8NCM8
jPOSTiQ8NCM8
MaxQBiQ8NCM8
PaxDbiQ8NCM8
PeptideAtlasiQ8NCM8
PRIDEiQ8NCM8
ProteomicsDBi72909
72910 [Q8NCM8-2]
72911 [Q8NCM8-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334267; ENSP00000334021; ENSG00000187240 [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240 [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240 [Q8NCM8-2]
ENST00000649997; ENSP00000496872; ENSG00000187240 [Q8NCM8-1]
ENST00000650373; ENSP00000497174; ENSG00000187240 [Q8NCM8-2]
GeneIDi79659
KEGGihsa:79659
UCSCiuc001phn.2 human [Q8NCM8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79659
DisGeNETi79659
EuPathDBiHostDB:ENSG00000187240.13

GeneCards: human genes, protein and diseases

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GeneCardsi
DYNC2H1
HGNCiHGNC:2962 DYNC2H1
HPAiHPA039015
HPA039016
MalaCardsiDYNC2H1
MIMi603297 gene
613091 phenotype
neXtProtiNX_Q8NCM8
OpenTargetsiENSG00000187240
Orphaneti474 Jeune syndrome
93269 Short rib-polydactyly syndrome, Majewski type
93270 Short rib-polydactyly syndrome, Saldino-Noonan type
93271 Short rib-polydactyly syndrome, Verma-Naumoff type

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
GeneTreeiENSGT00940000154620
HOVERGENiHBG107832
InParanoidiQ8NCM8
KOiK10414
OMAiANAHRAW
OrthoDBi926106at2759
PhylomeDBiQ8NCM8
TreeFamiTF315251

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Miscellaneous databases

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

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ChiTaRSi
DYNC2H1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DYNC2H1

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

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GenomeRNAii
79659

Protein Ontology

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PROi
PR:Q8NCM8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000187240 Expressed in 178 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ8NCM8 baseline and differential
GenevisibleiQ8NCM8 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR035699 AAA_6
IPR035706 AAA_9
IPR026983 DHC_fam
IPR026815 DYNC2H1
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
PANTHERiPTHR10676 PTHR10676, 1 hit
PTHR10676:SF352 PTHR10676:SF352, 1 hit
PfamiView protein in Pfam
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF08385 DHC_N1, 1 hit
PF08393 DHC_N2, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 3 hits
SUPFAMiSSF52540 SSF52540, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiDYHC2_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: Q8NCM8
Secondary accession number(s): O00432
, Q16693, Q3C1U8, Q4AC93, Q6ZMX7, Q6ZUM6, Q7Z363, Q8N977, Q92815, Q9HAE4
<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: February 26, 2008
Last sequence update: November 2, 2010
Last modified: February 13, 2019
This is version 139 of the entry and version 4 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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