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DNAH1 Gene

protein-coding   GIFtS: 52
GCID: GC03P052350

Dynein, Axonemal, Heavy Chain 1

(Previous names: dynein, axonemal, heavy polypeptide 1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dynein, Axonemal, Heavy Chain 11 2     XLHSRF-12
DNAHC12 3 5     DNAH1 Variant Protein2
Dynein, Axonemal, Heavy Polypeptide 11 2     Dynein Heavy Chain 1, Axonemal2
Axonemal Beta Dynein Heavy Chain 12 3     Heat Shock Regulated 12
Ciliary Dynein Heavy Chain 12 3     DHC73
Heat Shock Regulated Protein 12 3     KIAA14103
HSRF-12 3     hDHC73
HDHC72 5     EC 1.1.1.2058
HL112 5     EC 2.5.1.88
HL-112     

External Ids:    HGNC: 29401   Entrez Gene: 259812   Ensembl: ENSG000001148417   OMIM: 6033325   UniProtKB: Q9P2D73   

Export aliases for DNAH1 gene to outside databases

Previous GC identifers: GC03U990024 GC03P052244 GC07P021439 GC07P021384 GC03P052325


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DNAH1 Gene:
DNAH1 (dynein, axonemal, heavy chain 1) is a protein-coding gene. GO annotations related to this gene include microtubule motor activity and ATPase activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot: DYH1_HUMAN, Q9P2D7
Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.
Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in
sperm motility; implicated in sperm flagellar assembly (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNAH1 gene promoter:
         ER-alpha   Elk-1   SREBP-1c   Tal-1beta   SREBP-1b   E47   AREB6   Ik-2   SREBP-1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAH1 promoter sequence
   Search Chromatin IP Primers for DNAH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNAH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21-p14

DNAH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAH1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P052350:  view genomic region     (about GC identifiers)

Start:
52,350,335 bp from pter      End:
52,434,513 bp from pter
Size:
84,179 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DYH1_HUMAN, Q9P2D7 (See protein sequence)
Recommended Name: Dynein heavy chain 1, axonemal  
Size: 4330 amino acids; 493953 Da
Subunit: Consists of at least two heavy chains and a number of intermediate and light chains
Sequence caution: Sequence=BAA92648.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB14671.1; Type=Frameshift; Positions=4190; Sequence=BAB84956.2; Type=Miscellaneous discrepancy;
Note=Wrong choice of CDS; Sequence=CAB06058.1; Type=Frameshift; Positions=1595;
Secondary accessions: B0I1R6 O00436 O15435 O95491 Q6ZU48 Q86YK7 Q8TEJ4 Q92863 Q9H8E6 Q9UFW6
Q9Y4Z7
Alternative splicing: 5 isoforms:  Q9P2D7-1   Q9P2D7-2   Q9P2D7-3   Q9P2D7-4   Q9P2D7-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAH1: NX_Q9P2D7

Explore proteomics data for DNAH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for DNAH1 (Q9P2D7)
     GPTGTGK  EVRRVKK 


    See DNAH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056327.4  
    ENSEMBL proteins: 
     ENSP00000401514   ENSP00000419071   ENSP00000418688  

    DNAH1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DNAH1

     
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    DNAH1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Search eBioscience for ELISAs for DNAH1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DN: Axonemal dyneins

    Selected InterPro protein domains (see all 8):
     IPR004273 Dynein_heavy_dom
     IPR024317 Dynein_heavy_chain_D4_dom
     IPR026975 DNAH1
     IPR024743 Dynein_HC_stalk
     IPR011704 ATPase_dyneun-rel_AAA

    Graphical View of Domain Structure for InterPro Entry Q9P2D7

    ProtoNet protein and cluster: Q9P2D7

    2 Blocks protein domains:
    IPB004273 Dynein heavy chain
    IPB011704 ATPase associated with various cellular activities


    UniProtKB/Swiss-Prot: DYH1_HUMAN, Q9P2D7
    Domain: Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other
    dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head,
    which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and
    AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not
    clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two
    non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes
    ATP, the others may serve a regulatory function (By similarity)
    Similarity: Belongs to the dynein heavy chain family


    Find genes that share domains with DNAH1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYH1_HUMAN, Q9P2D7
    Function: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules.
    Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in
    sperm motility; implicated in sperm flagellar assembly (By similarity)

         Genatlas biochemistry entry for DNAH1:
    dynein,axonemal,motor protein interacting with microtubules,heavy chain 1,inner arm,expressed in testis,involved
    in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with
    ATPase activity

         Enzyme Numbers (IUBMB): EC 2.5.1.82 EC 1.1.1.2052

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity NAS9373155
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity IEA--
         
    Find genes that share ontologies with DNAH1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dnahc1):
     reproductive system  respiratory system 

    Find genes that share phenotypes with DNAH1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dnah1tm1Ihgg for DNAH1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNAH1
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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DYH1_HUMAN, Q9P2D7: Cytoplasm, cytoskeleton, cilium axoneme (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005858axonemal dynein complex NAS9373155
    GO:0005874microtubule IEA--
    GO:0030286dynein complex NAS8812413

    Find genes that share ontologies with DNAH1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DNAH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45
    2Cytoplasmic microtubules
    Cytoplasmic microtubules0.32


    Find genes that share SuperPaths with DNAH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for DNAH1):
        Huntington's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNAH1
    Interactions:

        Search GeneGlobe Interaction Network for DNAH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DNAH1 (Q9P2D73 ENSP000004015144) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    DNAH17ENSP000003744904STRING: ENSP00000374490
    DNAH2ENSP000003738254STRING: ENSP00000373825
    DNAH7ENSP000003112734STRING: ENSP00000311273
    DNAH8ENSP000003523124STRING: ENSP00000352312
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001539cilium or flagellum-dependent cell motility NAS9373155
    GO:0007018microtubule-based movement IEA--
    GO:0008152metabolic process NAS9373155
    GO:0009612response to mechanical stimulus NAS8812413

    Find genes that share ontologies with DNAH1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNAH1 (DYH1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DNAH1 gene: 
    NM_015512.4  

    Unigene Cluster for DNAH1:

    Dynein, axonemal, heavy chain 1
    Hs.655469  [show with all ESTs]
    Unigene Representative Sequence: AB290163
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486752(uc003ddv.3) ENST00000420323(uc011bef.2) ENST00000497875(uc003ddt.1)
    ENST00000466628 ENST00000488988 ENST00000490713 ENST00000480649 ENST00000487254

    miRNA
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    Block miRNA regulation of human, mouse, rat DNAH1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DNAH1:
    hsa-miR-1288
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional mRNA sequence: 

    AB037831.3 AB290163.1 AJ132083.1 AK023766.1 AK074130.2 AK093347.1 AK125990.1 AL117428.1 
    AL832045.1 AY221994.1 HQ013243.1 U61738.1 Z83804.1 

    7 DOTS entries:

    DT.209675  DT.97858397  DT.95164600  DT.95217463  DT.91667380  DT.99927595  DT.91667381 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DNAH1 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
    SP1:        -     -     -                                                                                                                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a · 46b ^
    SP1:  -                                                                                                                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55a · 55b ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b ^ 61a · 61b ^ 62 ^ 63a · 63b ^ 64a · 64b ^ 65 ^ 66a · 66b ^
    SP1:                                                                                                                    -                                       
    SP2:                                                                                                                    -                                       
    SP3:                                                                                                                    -                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                    -                                       

    ExUns: 67a · 67b ^ 68 ^ 69a · 69b ^ 70 ^ 71 ^ 72a · 72b ^ 73 ^ 74a · 74b ^ 75 ^ 76 ^ 77a · 77b ^ 78 ^ 79a · 79b · 79c ^ 80a · 80b · 80c ^
    SP1:                                      -                                                                             -                     
    SP2:                                      -                                                                             -     -               
    SP3:                                      -                                                                             -     -               
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for DNAH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DNAH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTATTCCT
    DNAH1 Expression
    About this image

    DNAH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNAH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655469

    UniProtKB/Swiss-Prot: DYH1_HUMAN, Q9P2D7
    Tissue specificity: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also
    expressed in brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DNAH1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnahc15
    Dnah11
    dynein, axonemal, heavy chain 11, 5 86.63(n)1
    90.15(a)1
      14 (19.10 cM)5
    1100841  NM_001033668.11  NP_001028840.11 
     312603755 
    chicken
    (Gallus gallus)
    Aves DNAH11 dynein, axonemal, heavy chain 1 72.63(n)
    73.57(a)
      415943  XM_414287.4  XP_414287.4 
    lizard
    (Anolis carolinensis)
    Reptilia DNAH16
    dynein, axonemal, heavy chain 1
    81(a)
    1 ↔ 1
    GL343474.1(158317-312129)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dnah11 dynein, axonemal, heavy chain 1 69.16(n)
    74.98(a)
      100036734  XM_002935629.2  XP_002935675.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dnah11 dynein, axonemal, heavy chain 1 71.22(n)
    76.49(a)
      100317899  XM_002663794.4  XP_002663840.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dhc62B6
    Dynein heavy chain at 62B
    36(a)
    many ↔ many
    3L(1759172-1771758)


    ENSEMBL Gene Tree for DNAH1 (if available)
    TreeFam Gene Tree for DNAH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNAH1 gene
    DNAH52  DNAH22  DYNC1H12  DNAH82  DYNC2H12  DNAH92  DNAH32  DNAH112  
    DNAH72  DNAH62  DNAH102  DNAH172  
    17 SIMAP similar genes for DNAH1 using alignment to 3 protein entries:     DYH1_HUMAN (see all proteins):
    Dnahc11    Dnahc9    Dnahc3    Dnchc1    DNAH5    DNAH2
    DNAH10    DNAH12    DNAH3    DNAH7    DNAH11    DNAH14
    DNAH6    DNAH9    DNAH17    DYNC2H1    DNAH8

    Find genes that share paralogs with DNAH1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DNAH1 (see all 2102)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7300501,2
    C,F,A,H--52348364(+) TCCCCA/C/GCCTTG 1 -- us2k1 trp319NS EA NA CSA WA 2035
    rs775891631,2
    C,F--52348373(+) TGGGCC/TGCTGC 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1835447401,2
    --52348579(+) ACTGAC/TGCATG 1 -- us2k10--------
    rs1867660941,2
    --52349127(+) ATGTCA/GGGGAG 1 -- us2k10--------
    rs38520631,2
    C,F--52349204(+) CTGCAA/GCTCAC 1 -- us2k1 tfbs37Minor allele frequency- G:0.38NA EA 250
    rs1926681841,2
    --52349239(+) CCAGGC/TCTAGA 1 -- us2k10--------
    rs38520641,2
    C,F,A,H--52349412(+) AGCCAG/TTGAAG 1 -- us2k130Minor allele frequency- T:0.31NS EA NA CSA WA 3158
    rs1123734871,2
    C,F--52349438(+) AGCCAG/TCAAGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs747218061,2
    C,F--52349457(+) GGGAGG/AGGGTG 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1849083161,2
    --52349634(+) ACCTAA/GTCCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAH1 (52350335 - 52434513 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for DNAH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3818CNV Insertion18451855
    dgv5137n71CNV Loss21882294
    nsv834695CNV Loss17160897
    nsv834696CNV Loss17160897
    nsv876789CNV Loss21882294
    nsv834697CNV Loss17160897
    dgv5136n71CNV Gain21882294
    nsv519445CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603332    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for DNAH1:
    Primary ciliary dyskinesia     Situs inversus

    Find genes that share disorders with DNAH1           About GenesLikeMe


    Export disorders for DNAH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DNAH1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with DNAH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PubMed id 9256245)1, 2, 3 Chapelin C....Amselem S. (FEBS Lett. 1997)
    2. Multiple mouse chromosomal loci for dynein-based motility. (PubMed id 8812413)1, 2, 3 Vaughan K.T....Vallee R.B. (Genomics 1996)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    5. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PubMed id 9373155)1, 2 Neesen J.... Schmid M. (Gene 1997)
    6. Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella. (PubMed id 24360805)1 Ben Khelifa M....Ray P.F. (Am. J. Hum. Genet. 2014)
    7. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    8. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    9. SNX4 in complex with clathrin and dynein: implications for endosome movement. (PubMed id 19529763)1 SkAYnland S.S....Sandvig K. (PLoS ONE 2009)
    10. Intracellular transport of human immunodeficiency virus type 1 genomic RNA and viral production are dependent on dynein motor function and late endosome positioning. (PubMed id 19286658)1 Lehmann M....Mouland A.J. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25981 HGNC: 2940 Ensembl:ENSG00000114841 euGenes: HUgn25981 ECgene: DNAH1 Kegg: 25981
    H-InvDB: DNAH1

    (According to HUGE)
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    HUGE: KIAA1410

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DNAH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNAH1 gene:
    Search GeneIP for patents involving DNAH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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