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Dnah11 dynein, axonemal, heavy chain 11 [ Mus musculus (house mouse) ]

Gene ID: 13411, updated on 27-Nov-2024

Summary

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Official Symbol
Dnah11provided by MGI
Official Full Name
dynein, axonemal, heavy chain 11provided by MGI
Primary source
MGI:MGI:1100864
See related
Ensembl:ENSMUSG00000018581 AllianceGenome:MGI:1100864
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
iv; lrd; avc4; Dnahc11; b2b598Clo; b2b1203Clo; b2b1279Clo; b2b1289Clo; b2b1727Clo
Summary
Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including cardiac septum morphogenesis; determination of left/right symmetry; and flagellated sperm motility. Located in 9+0 motile cilium; 9+2 motile cilium; and proximal portion of axoneme. Is expressed in several structures, including future brain; metanephros; node; oviduct; and secondary heart field. Used to study Kartagener syndrome; atrioventricular septal defect; primary ciliary dyskinesia 7; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Kartagener syndrome and primary ciliary dyskinesia 7. Orthologous to human DNAH11 (dynein axonemal heavy chain 11). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in frontal lobe adult (RPKM 1.1), cerebellum adult (RPKM 1.0) and 20 other tissues See more
Orthologs
human all
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Genomic context

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See Dnah11 in Genome Data Viewer
Location:
12 F2; 12 63.25 cM
Exon count:
86
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (117841717..118162778, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (117877982..118199043, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene Rap guanine nucleotide exchange factor (GEF) 5 Neighboring gene STARR-positive B cell enhancer mm9_chr12:119003289-119003590 Neighboring gene heterogeneous nuclear ribonucleoprotein A2/B1 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr12:119058566-119058867 Neighboring gene STARR-seq mESC enhancer starr_33427 Neighboring gene 60S acidic ribosomal protein P2 pseudogene Neighboring gene cell division cycle associated 7 like Neighboring gene STARR-seq mESC enhancer starr_33429 Neighboring gene STARR-positive B cell enhancer mm9_chr12:119539914-119540215 Neighboring gene STARR-positive B cell enhancer mm9_chr12:119540362-119540663 Neighboring gene trans-acting transcription factor 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:119611733-119611916 Neighboring gene STARR-seq mESC enhancer starr_33430 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:119615690-119615886 Neighboring gene predicted gene, 25577

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Random determination of a developmental process: reversal of normal visceral asymmetry in the mouse. Layton WM Jr. J Hered, 1976 Nov-Dec. PMID 1021593
  2. Abnormal laterality and congenital cardiac anomalies. Relations of visceral and cardiac morphologies in the iv/iv mouse. Seo JW, et al. Circulation, 1992 Aug. PMID 1638728
  3. Establishment of left-right asymmetry in vertebrates: genetically distinct steps are involved. Brueckner M, et al. Ciba Found Symp, 1991. PMID 1802643
  4. Origin and course of the coronary arteries in normal mice and in iv/iv mice. Icardo JM, et al. J Anat, 2001 Oct. PMID 11693308, Free PMC Article
  5. The development of asymmetry: the sidedness of drug-induced limb abnormalities is reversed in situs inversus mice. Brown NA, et al. Development, 1989 Nov. PMID 2612382

See all (89) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans
    Title: Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
  2. These data unveil a previously unrecognized role for the dynein-dynactin motor complex in osteoclast formation and function.
    Title: Disruption of the dynein-dynactin complex unveils motor-specific functions in osteoclast formation and bone resorption.
  3. iv functions to establish asymmetric expression of nodal in a gene-dosage-sensitive manner
    Title: Gene-dosage-sensitive genetic interactions between inversus viscerum (iv), nodal, and activin type IIB receptor (ActRIIB) genes in asymmetrical patterning of the visceral organs along the left-right axis.
  4. work supports the claim that LRD functions in a mechanism for selective chromatid segregation
    Title: Left-right dynein motor implicated in selective chromatid segregation in mouse cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cardiac septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cilium movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within determination of left/right asymmetry in nervous system IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within determination of left/right symmetry ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within learning or memory IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cilium beat frequency ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in 9+0 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axoneme ISO
Inferred from Sequence Orthology
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in motile cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in motile cilium ISO
Inferred from Sequence Orthology
more info
  
located_in proximal portion of axoneme IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dynein axonemal heavy chain 11
Names
dynein, axon, heavy chain 11
situs inversus viscerum

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010060.3 → NP_034190.3  dynein axonemal heavy chain 11

    Status: VALIDATED

    Source sequence(s)
    AC139993, AC163032, AC163278, AC163688, AC167979
    Consensus CDS
    CCDS36578.1
    UniProtKB/TrEMBL
    E9Q7N9, Q9QZH1
    Related
    ENSMUSP00000081867.7, ENSMUST00000084806.7
    Conserved Domains (2) summary
    COG5245
    Location:1524 → 4138
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam12777
    Location:3069 → 3413
    MT; Microtubule-binding stalk of dynein motor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    117841717..118162778 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017314946.3 → XP_017170435.1  dynein axonemal heavy chain 11 isoform X1

    Conserved Domains (6) summary
    COG5245
    Location:154 → 2727
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam12777
    Location:1699 → 2043
    MT; Microtubule-binding stalk of dynein motor
    pfam08393
    Location:3 → 332
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:466 → 792
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam12780
    Location:1427 → 1686
    AAA_8; P-loop containing dynein motor region D4
    pfam18199
    Location:2780 → 3075
    Dynein_C; Dynein heavy chain C-terminal domain

  2. XM_017314947.3 → XP_017170436.1  dynein axonemal heavy chain 11 isoform X2

    Conserved Domains (6) summary
    COG5245
    Location:154 → 2710
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam12777
    Location:1641 → 1985
    MT; Microtubule-binding stalk of dynein motor
    pfam08393
    Location:3 → 332
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:466 → 792
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam12780
    Location:1369 → 1628
    AAA_8; P-loop containing dynein motor region D4
    pfam18199
    Location:2763 → 3058
    Dynein_C; Dynein heavy chain C-terminal domain

  3. XM_006515463.5 → XP_006515526.1  dynein axonemal heavy chain 11 isoform X3

    Conserved Domains (5) summary
    COG5245
    Location:5 → 1935
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam12777
    Location:866 → 1210
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:594 → 853
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:1237 → 1450
    AAA_9; ATP-binding dynein motor region D5
    pfam18199
    Location:1988 → 2283
    Dynein_C; Dynein heavy chain C-terminal domain

  4. XM_006515464.4 → XP_006515527.1  dynein axonemal heavy chain 11 isoform X5

    Conserved Domains (8) summary
    pfam12777
    Location:487 → 831
    MT; Microtubule-binding stalk of dynein motor
    pfam03028
    Location:1326 → 1442
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam12780
    Location:215 → 474
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:858 → 1071
    AAA_9; ATP-binding dynein motor region D5
    pfam17857
    Location:72 → 169
    AAA_lid_1; AAA+ lid domain
    pfam18198
    Location:1444 → 1603
    AAA_lid_11; Dynein heavy chain AAA lid domain
    pfam18199
    Location:1609 → 1904
    Dynein_C; Dynein heavy chain C-terminal domain
    cl38985
    Location:1 → 39
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. XM_006515466.5 → XP_006515529.1  dynein axonemal heavy chain 11 isoform X6

    Conserved Domains (6) summary
    pfam12777
    Location:53 → 397
    MT; Microtubule-binding stalk of dynein motor
    pfam03028
    Location:892 → 1008
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam12781
    Location:424 → 637
    AAA_9; ATP-binding dynein motor region D5
    pfam18198
    Location:1010 → 1169
    AAA_lid_11; Dynein heavy chain AAA lid domain
    pfam18199
    Location:1175 → 1470
    Dynein_C; Dynein heavy chain C-terminal domain
    cl38985
    Location:1 → 40
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. XM_006515468.3 → XP_006515531.1  dynein axonemal heavy chain 11 isoform X8

    Conserved Domains (4) summary
    pfam03028
    Location:448 → 564
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam12781
    Location:35 → 193
    AAA_9; ATP-binding dynein motor region D5
    pfam18198
    Location:566 → 725
    AAA_lid_11; Dynein heavy chain AAA lid domain
    pfam18199
    Location:731 → 1026
    Dynein_C; Dynein heavy chain C-terminal domain

  7. XM_006515467.3 → XP_006515530.1  dynein axonemal heavy chain 11 isoform X7

    Conserved Domains (4) summary
    pfam03028
    Location:541 → 657
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam12781
    Location:73 → 286
    AAA_9; ATP-binding dynein motor region D5
    pfam18198
    Location:659 → 818
    AAA_lid_11; Dynein heavy chain AAA lid domain
    pfam18199
    Location:824 → 1119
    Dynein_C; Dynein heavy chain C-terminal domain

  8. XM_017314949.1 → XP_017170438.1  dynein axonemal heavy chain 11 isoform X4

    Conserved Domains (9) summary
    pfam12777
    Location:1699 → 2043
    MT; Microtubule-binding stalk of dynein motor
    pfam08393
    Location:3 → 332
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:466 → 792
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam12775
    Location:1073 → 1251
    AAA_7; P-loop containing dynein motor region D3
    pfam12780
    Location:1427 → 1686
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:2070 → 2234
    AAA_9; ATP-binding dynein motor region D5
    pfam17852
    Location:951 → 1068
    Dynein_AAA_lid; Dynein heavy chain AAA lid domain
    pfam17857
    Location:1284 → 1381
    AAA_lid_1; AAA+ lid domain
    cl38936
    Location:780 → 915
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
Nucleotide Protein Strain
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