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

Gene ID: 8701, updated on 9-Jul-2021

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
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Genomic context

See DNAH11 in Genome Data Viewer
Location:
7p15.3
Exon count:
82
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (21543039..21901839)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (21582657..21941457)

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Ciliary dyskinesia, primary, 7
MedGen: C2678473 OMIM: 611884 GeneReviews: Primary Ciliary Dyskinesia
Compare labs
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
GeneReviews: Not available
Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.
GeneReviews: Not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
GeneReviews: Not available

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in 9+0 motile cilium IEA
Inferred from Electronic Annotation
more info
 
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in proximal portion of axoneme IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

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.

Genomic

  1. NG_012886.2 RefSeqGene

    Range
    4825..363625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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 Updated Annotation Release 109.20210514

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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