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

    Gene ID: 8701, updated on 11-Apr-2024

    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; AllianceGenome:HGNC:2942
    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
    NEW
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    Genomic context

    See DNAH11 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    82
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (21543039..21901839)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (21679184..22038139)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (21582657..21941457)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17996 Neighboring gene RNA, U1 small nuclear 15, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5184 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:21520156-21520779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:21581979-21582480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17997 Neighboring gene NANOG hESC enhancer GRCh37_chr7:21584813-21585779 Neighboring gene microRNA 1183 Neighboring gene uncharacterized LOC105375183 Neighboring gene Sp4 transcription factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:21639662-21640861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25700 Neighboring gene NANOG hESC enhancer GRCh37_chr7:21804820-21805335 Neighboring gene VISTA enhancer hs294 Neighboring gene uncharacterized LOC124901599 Neighboring gene uncharacterized LOC107986775 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:21937780-21938979 Neighboring gene NANOG hESC enhancer GRCh37_chr7:21981192-21981812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:21985471-21986181 Neighboring gene cell division cycle associated 7 like Neighboring gene VISTA enhancer hs807 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22097966 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22118756 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22119917 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22117733 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22121421 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22123422 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:22141595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17999 Neighboring gene NANOG hESC enhancer GRCh37_chr7:22218362-22218864 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:22224198-22225096 Neighboring gene Rap guanine nucleotide exchange factor 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:22281835-22282335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:22369304-22369804 Neighboring gene RNA, 5S ribosomal pseudogene 227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18002 Neighboring gene HNF4 motif-containing MPRA enhancer 142 Neighboring gene GATA motif-containing MPRA enhancer 55/56 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:22517166-22517666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:22517667-22518167 Neighboring gene STEAP family member 1B

    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
    Primary ciliary dyskinesia 7
    MedGen: C2678473 OMIM: 611884 GeneReviews: Primary Ciliary Dyskinesia
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30095, FLJ37699

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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
     
    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 
    part_of dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    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)

    NEW Try the new Transcript table

    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, Q9UJ82
      UniProtKB/TrEMBL
      C0JYZ1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      21679184..22038139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)