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

Summary

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 node. 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, Apr 2022]
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

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_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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Variation

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Alleles

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

Spontaneous (2) 1 citation
Targeted (4) 1 citation
Chemically induced (ENU) (11) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

D6Rck362 (e-PCR), detects polymorphism
- UniSTS:142628

NoName (e-PCR)
- UniSTS:225253

Dnahc11 (e-PCR), detects polymorphism
- UniSTS:259327

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
involved_in protein localization to motile cilium	ISO Inferred from Sequence Orthology more info
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
located_in 9+2 motile cilium	ISO Inferred from Sequence Orthology more info
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
located_in proximal portion of axoneme	ISO Inferred from Sequence Orthology more info

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)

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

NC_000078.7 Reference GRCm39 C57BL/6J

Range

117841717..118162778 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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