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DNAH11 dynein axonemal heavy chain 11 [ Homo sapiens (human) ]

Gene ID: 8701, updated on 15-Jun-2019

Summary

Official Symbol
DNAH11provided by HGNC
Official Full Name
dynein axonemal heavy chain 11provided by HGNC
Primary source
HGNC:HGNC:2942
See related
Ensembl:ENSG00000105877 MIM:603339
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CILD7; DNHBL; DPL11; DNAHBL; DNAHC11
Summary
This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
Expression
Broad expression in thyroid (RPKM 1.1), lung (RPKM 1.1) and 25 other tissues See more
Orthologs

Genomic context

See DNAH11 in Genome Data Viewer
Location:
7p15.3
Exon count:
82
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (21543215..21901568)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (21582833..21941451)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 15, pseudogene Neighboring gene Sp4 transcription factor Neighboring gene microRNA 1183 Neighboring gene uncharacterized LOC105375183 Neighboring gene VISTA enhancer hs294 Neighboring gene uncharacterized LOC107986775 Neighboring gene cell division cycle associated 7 like Neighboring gene VISTA enhancer hs807 Neighboring gene uncharacterized LOC102724143

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 7
MedGen: C2678473 OMIM: 611884 GeneReviews: Primary Ciliary Dyskinesia
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NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
NHGRI GWA Catalog
Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.
NHGRI GWA Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA Catalog

Pathways from BioSystems

  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30095, FLJ37699

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity, minus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cardiac septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
determination of heart left/right asymmetry IEA
Inferred from Electronic Annotation
more info
 
determination of left/right asymmetry in nervous system IEA
Inferred from Electronic Annotation
more info
 
determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cilium movement involved in determination of left/right asymmetry IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cilium beat frequency IMP
Inferred from Mutant Phenotype
more info
PubMed 
sperm flagellum movement involved in flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
9+0 motile cilium IEA
Inferred from Electronic Annotation
more info
 
9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
9+2 motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
proximal portion of axoneme IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dynein heavy chain 11, axonemal
Names
axonemal beta dynein heavy chain 11
axonemal dynein heavy chain 11
ciliary dynein heavy chain 11
dynein, axonemal, heavy polypeptide 11
dynein, ciliary, heavy chain 11

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012886.2 RefSeqGene

    Range
    5001..363354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001277115.2NP_001264044.1  dynein heavy chain 11, axonemal

    See identical proteins and their annotated locations for NP_001264044.1

    Status: REVIEWED

    Source sequence(s)
    AC004002, AC004595, AC005078, AC073102, AC099653, AC102952, AJ320497, AK054657, JQ247523, JQ247524
    Consensus CDS
    CCDS64602.1
    UniProtKB/Swiss-Prot
    Q96DT5
    UniProtKB/TrEMBL
    H9NAJ7, H9NAJ8, Q96NT7
    Related
    ENSP00000475939.1, ENST00000409508.8
    Conserved Domains (6) summary
    pfam03028
    Location:38204506
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:239812
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13191722
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:30973441
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:34683680
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:24712741
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    21543039..21901839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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