Q8NCM8 · DYHC2_HUMAN

  • Protein
    Cytoplasmic dynein 2 heavy chain 1
  • Gene
    DYNC2H1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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).

Features

Showing features for binding site.

143075001,0001,5002,0002,5003,0003,5004,000
TypeIDPosition(s)Description
Binding site145-152ATP (UniProtKB | ChEBI)
Binding site1689-1696ATP (UniProtKB | ChEBI)
Binding site1979-1986ATP (UniProtKB | ChEBI)
Binding site2291-2298ATP (UniProtKB | ChEBI)
Binding site2655-2662ATP (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular Component9+2 motile cilium
Cellular Componentapical part of cell
Cellular Componentaxoneme
Cellular Componentciliary tip
Cellular Componentcilium
Cellular Componentcytoplasmic dynein complex
Cellular Componentextracellular exosome
Cellular ComponentGolgi apparatus
Cellular Componentmicrotubule
Cellular Componentplasma membrane
Molecular FunctionATP binding
Molecular FunctionATP hydrolysis activity
Molecular Functioncytoskeletal motor activity
Molecular Functiondynein intermediate chain binding
Molecular Functiondynein light intermediate chain binding
Molecular Functionminus-end-directed microtubule motor activity
Biological Processcilium movement involved in cell motility
Biological Processcoronary vasculature development
Biological Processdetermination of left/right symmetry
Biological Processdorsal/ventral pattern formation
Biological Processembryonic limb morphogenesis
Biological Processforebrain development
Biological ProcessGolgi organization
Biological Processintraciliary retrograde transport
Biological Processkidney development
Biological Processnon-motile cilium assembly
Biological Processpositive regulation of smoothened signaling pathway
Biological Processprotein localization to cilium
Biological Processprotein processing
Biological Processspinal cord motor neuron differentiation

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Cytoplasmic dynein 2 heavy chain 1
  • Alternative names
    • Cytoplasmic dynein 2 heavy chain
    • Dynein cytoplasmic heavy chain 2
    • Dynein heavy chain 11 (hDHC11)
    • Dynein heavy chain isotype 1B

Gene names

    • Name
      DYNC2H1
    • Synonyms
      DHC1B, DHC2, DNCH2, DYH1B, KIAA1997

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q8NCM8
  • Secondary accessions
    • O00432
    • Q16693
    • Q3C1U8
    • Q4AC93
    • Q6ZMX7

Proteomes

Organism-specific databases

Subcellular Location

Cell membrane
; Peripheral membrane protein
Cytoplasm
Note: Localizes to the apical cytoplasm (By similarity).
According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668).

Keywords

Disease & Variants

Involvement in disease

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)

  • Note
    • The disease is caused by variants 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)
  • Description
    A 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
    MIM:613091
Natural variants in SRTD3
Variant IDPosition(s)ChangeDescription
VAR_063242209F>Iin SRTD3; dbSNP:rs771511132
VAR_069591330R>Cin SRTD3; dbSNP:rs397514637
VAR_069592338R>Gin SRTD3; dbSNP:rs1322077043
VAR_069593430R>Cin SRTD3; dbSNP:rs374073337
VAR_069594495K>Rin SRTD3; dbSNP:rs202233363
VAR_063243587R>Cin SRTD3; dbSNP:rs137853030
VAR_069595871L>Pin SRTD3
VAR_0695961228L>Iin SRTD3; uncertain significance; dbSNP:rs189806840
VAR_0632441240I>Tin SRTD3; dbSNP:rs137853028
VAR_0695971379M>Vin SRTD3
VAR_0695981423R>Cin SRTD3; dbSNP:rs745870321
VAR_0695991442G>Din SRTD3; dbSNP:rs763571787
VAR_0632451537Q>Rin SRTD3; dbSNP:rs137853033
VAR_0632461987T>Ain SRTD3; dbSNP:rs137853035
VAR_0696001991M>Kin SRTD3; dbSNP:rs1202784860
VAR_0632471991M>Lin SRTD3; dbSNP:rs137853025
VAR_0632482205R>Hin SRTD3; dbSNP:rs137853031
VAR_0696012227M>Vin SRTD3; dbSNP:rs750249486
VAR_0696022304A>Tin SRTD3; dbSNP:rs747348765
VAR_0696032362N>Sin SRTD3; dbSNP:rs1862122773
VAR_0632492461G>Vin SRTD3; dbSNP:rs137853034
VAR_0696042481R>Qin SRTD3; dbSNP:rs781326398
VAR_0696052496P>Sin SRTD3; dbSNP:rs397514636
VAR_0696062532R>Win SRTD3; dbSNP:rs1350329646
VAR_0696072555V>Min SRTD3; dbSNP:rs746195428
VAR_0696082573Y>Cin SRTD3; dbSNP:rs1278825521
VAR_0696092640I>Tin SRTD3; dbSNP:rs1265669915
VAR_0696102662R>Qin SRTD3; dbSNP:rs397514635
VAR_0696112819I>Min SRTD3; dbSNP:rs1060501431
VAR_0632503015D>Gin SRTD3; dbSNP:rs137853027
VAR_0696123381P>Lin SRTD3; dbSNP:rs368631447
VAR_0632513762L>Vin SRTD3
VAR_0696133806R>Cin SRTD3; dbSNP:rs754753584
VAR_0696143847W>Gin SRTD3; dbSNP:rs752554582
VAR_0696164232L>Rin SRTD3; dbSNP:rs1945272232

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_063242209in SRTD3; dbSNP:rs771511132
Natural variantVAR_038862302in dbSNP:rs12803695
Natural variantVAR_038863304in dbSNP:rs12146610
Natural variantVAR_069591330in SRTD3; dbSNP:rs397514637
Natural variantVAR_069592338in SRTD3; dbSNP:rs1322077043
Natural variantVAR_038864341in dbSNP:rs17301182
Natural variantVAR_069593430in SRTD3; dbSNP:rs374073337
Natural variantVAR_038865456in dbSNP:rs17099969
Natural variantVAR_069594495in SRTD3; dbSNP:rs202233363
Natural variantVAR_063243587in SRTD3; dbSNP:rs137853030
Natural variantVAR_038866789in dbSNP:rs7358374
Natural variantVAR_069595871in SRTD3
Natural variantVAR_0388671221in dbSNP:rs12794914
Natural variantVAR_0695961228in SRTD3; uncertain significance; dbSNP:rs189806840
Natural variantVAR_0632441240in SRTD3; dbSNP:rs137853028
Natural variantVAR_0388681288in dbSNP:rs17301750
Natural variantVAR_0695971379in SRTD3
Natural variantVAR_0388691413in dbSNP:rs688906
Natural variantVAR_0695981423in SRTD3; dbSNP:rs745870321
Natural variantVAR_0695991442in SRTD3; dbSNP:rs763571787
Natural variantVAR_0632451537in SRTD3; dbSNP:rs137853033
Natural variantVAR_0632461987in SRTD3; dbSNP:rs137853035
Natural variantVAR_0696001991in SRTD3; dbSNP:rs1202784860
Natural variantVAR_0632471991in SRTD3; dbSNP:rs137853025
Natural variantVAR_0632482205in SRTD3; dbSNP:rs137853031
Natural variantVAR_0696012227in SRTD3; dbSNP:rs750249486
Natural variantVAR_0696022304in SRTD3; dbSNP:rs747348765
Natural variantVAR_0696032362in SRTD3; dbSNP:rs1862122773
Natural variantVAR_0632492461in SRTD3; dbSNP:rs137853034
Natural variantVAR_0696042481in SRTD3; dbSNP:rs781326398
Natural variantVAR_0696052496in SRTD3; dbSNP:rs397514636
Natural variantVAR_0696062532in SRTD3; dbSNP:rs1350329646
Natural variantVAR_0696072555in SRTD3; dbSNP:rs746195428
Natural variantVAR_0696082573in SRTD3; dbSNP:rs1278825521
Natural variantVAR_0696092640in SRTD3; dbSNP:rs1265669915
Natural variantVAR_0696102662in SRTD3; dbSNP:rs397514635
Natural variantVAR_0696112819in SRTD3; dbSNP:rs1060501431
Natural variantVAR_0388702871in dbSNP:rs589623
Natural variantVAR_0632503015in SRTD3; dbSNP:rs137853027
Natural variantVAR_0696123381in SRTD3; dbSNP:rs368631447
Natural variantVAR_0388713680in dbSNP:rs10895391
Natural variantVAR_0632513762in SRTD3
Natural variantVAR_0696133806in SRTD3; dbSNP:rs754753584
Natural variantVAR_0696143847in SRTD3; dbSNP:rs752554582
Natural variantVAR_0696153909found in short rib-polydactyly syndrome 3/6; uncertain significance; digenic inheritance; the patient also carries a mutation in NEK1; dbSNP:rs201479015
Natural variantVAR_0388723976in dbSNP:rs4754914
Natural variantVAR_0388734139in dbSNP:rs1793493
Natural variantVAR_0696164232in SRTD3; dbSNP:rs1945272232

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 5,467 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain.

TypeIDPosition(s)Description
ChainPRO_00003187431-4307Cytoplasmic dynein 2 heavy chain 1

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Subunit

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

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for region, coiled coil.

TypeIDPosition(s)Description
Region1-1650Stem
Coiled coil1074-1103
Region1651-1875AAA 1
Region1938-2161AAA 2
Region2251-2505AAA 3
Region2617-2863AAA 4
Region2881-3169Stalk
Coiled coil2897-2982
Coiled coil3109-3200
Region3244-3473AAA 5
Coiled coil3408-3442
Region3690-3905AAA 6

Sequence similarities

Belongs to the dynein heavy chain family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (3)
  • Sequence status
    Complete

This entry describes 3 isoforms produced by Alternative splicing.

Q8NCM8-1

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.

  • Length
    4,307
  • Mass (Da)
    492,622
  • Last updated
    2010-11-02 v4
  • Checksum
    54B60DEE419B7E9D

Q8NCM8-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Q8NCM8-3

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 4 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
H0YEX1H0YEX1_HUMANDYNC2H1224
H0YDE0H0YDE0_HUMANDYNC2H1378
A0A3B3ISP9A0A3B3ISP9_HUMANDYNC2H11255
A0A3B3IT36A0A3B3IT36_HUMANDYNC2H1751

Sequence caution

The sequence BAB13905.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAC04578.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAD18598.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.

Features

Showing features for sequence conflict, alternative sequence.

TypeIDPosition(s)Description
Sequence conflict174in Ref. 1; BAE17138
Sequence conflict178in Ref. 1; BAE17138
Sequence conflict594in Ref. 1; BAE17138
Alternative sequenceVSP_031282736-4122in isoform 3
Sequence conflict1120in Ref. 4; AAB09728
Sequence conflict1168in Ref. 4; AAB09728
Sequence conflict1784in Ref. 6; CAB06054
Sequence conflict1864in Ref. 6; CAB06054
Sequence conflict1866-1867in Ref. 6; CAB06054
Sequence conflict1930in Ref. 1; BAE46899
Sequence conflict3095in Ref. 7; CAD98012
Alternative sequenceVSP_0312833273in isoform 2
Sequence conflict3665in Ref. 7; CAD98012
Sequence conflict4258in Ref. 3; BAB13905

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AB231765
EMBL· GenBank· DDBJ
BAE46899.1
EMBL· GenBank· DDBJ
mRNA
AB231766
EMBL· GenBank· DDBJ
BAE17138.1
EMBL· GenBank· DDBJ
mRNA
AP000817
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AP001486
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AP002829
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AP002961
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AP003382
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AP003461
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AK021818
EMBL· GenBank· DDBJ
BAB13905.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK095579
EMBL· GenBank· DDBJ
BAC04578.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK125524
EMBL· GenBank· DDBJ
BAC86194.1
EMBL· GenBank· DDBJ
mRNA
AK131453
EMBL· GenBank· DDBJ
BAD18598.1
EMBL· GenBank· DDBJ
mRNA Different initiation
U53531
EMBL· GenBank· DDBJ
AAB09728.1
EMBL· GenBank· DDBJ
mRNA
U20552
EMBL· GenBank· DDBJ
AAB50020.1
EMBL· GenBank· DDBJ
mRNA
Z83800
EMBL· GenBank· DDBJ
CAB06054.1
EMBL· GenBank· DDBJ
mRNA
BX538093
EMBL· GenBank· DDBJ
CAD98012.1
EMBL· GenBank· DDBJ
mRNA
AB082528
EMBL· GenBank· DDBJ
BAC02706.2
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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