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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNHD1 Gene

protein-coding   GIFtS: 46
GCID: GC11P006543

dynein heavy chain domain 1

(Previous names: chromosome 11 open reading frame 47, dynein heavy chain...)
(Previous symbols: DHCD1, C11orf47, DNHD1L, CCDC35)
 Explore 3 diseases affiliated with
DNHD1 via our new
 Human Malady Compendium 
Biological research products
for DNHD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dynein Heavy Chain Domain 11 2     FLJ327521
C11orf471 2 3     FLJ357091
CCDC351 2 3     FLJ461841
DHCD11 2 3     Chromosome 11 Open Reading Frame 471
DNHD1L1 2 3     Dynein Heavy Chain Domain 1-Like1
Coiled-Coil Domain Containing 351 2     DNHD1 Variant Protein2
Dynein Heavy Chain Domain 1-Like Protein2 3     Dynein Heavy Chain Domain-Containing Protein 12
DKFZp686J07961     Protein CCDC353

External Ids:    HGNC: 265321   Entrez Gene: 1441322   Ensembl: ENSG000001795327   UniProtKB: Q96M863   

Export aliases for DNHD1 gene to outside databases

Previous GC identifer: GC11P006178


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNHD1 gene promoter:
         AREB6   GR   PPAR-gamma1   Pax-6   Pax-2   GR-alpha   PPAR-gamma2   TGIF   Hlf   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNHD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNHD1


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

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

DNHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNHD1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P006543:  view genomic region     (about GC identifiers)

Start:
6,518,490 bp from pter      End:
6,614,988 bp from pter
Size:
96,499 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DNHD1_HUMAN, Q96M86 (See protein sequence)
Recommended Name: Dynein heavy chain domain-containing protein 1  
Size: 4753 amino acids; 533644 Da
Sequence caution: Sequence=AAQ89130.1; Type=Frameshift; Positions=637; Sequence=BAB85004.1; Type=Miscellaneous
discrepancy; Note=Intron retention; Sequence=CAB70845.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Sequence=EAW68692.1; Type=Erroneous gene model prediction;
Secondary accessions: Q2NKK8 Q6UWI9 Q8NAA2 Q8TEE6 Q9NSZ9
Alternative splicing: 3 isoforms:  Q96M86-3   Q96M86-4   Q96M86-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNHD1: NX_Q96M86

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96M86

  • DNHD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_653267.2  NP_775860.3  

    ENSEMBL proteins: 
     ENSP00000464390   ENSP00000346716   ENSP00000436180   ENSP00000435493   ENSP00000433105  
     ENSP00000462936   ENSP00000464173   ENSP00000254579  

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    Uscn Proteins for DNHD1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030286dynein complex IEA--


    DNHD1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DNHD1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR004273 Dynein_heavy_dom
     IPR013602 Dynein_heavy_dom-2
     IPR024743 Dynein_HC_stalk
     IPR026983 DHC_fam

    Graphical View of Domain Structure for InterPro Entry Q96M86

    ProtoNet protein and cluster: Q96M86

    UniProtKB/Swiss-Prot: DNHD1_HUMAN, Q96M86
    Similarity: Belongs to the dynein heavy chain family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-3920 hsa-miR-29a*
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IEA--


    DNHD1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DNHD1:
     Decreased viability with pacli  Synthetic lethal with c-Myc af 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNHD1

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

    5/37 Interacting proteins for DNHD1 (Q96M863 ENSP000002545794) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    PLK1ENSP000003000934STRING: ENSP00000300093
    DCTN1ENSP000003547914STRING: ENSP00000354791
    DCTN2ENSP000004089104STRING: ENSP00000408910
    DNAH1ENSP000004015144STRING: ENSP00000401514
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement IEA--


    DNHD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNHD1
    Search CenterWatch for drugs/clinical trials and news about DNHD1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNHD1 gene (2 alternative transcripts): 
    NM_144666.2  NM_173589.3  

    Unigene Cluster for DNHD1:

    Dynein heavy chain domain 1
    Hs.720080  [show with all ESTs]
    Unigene Representative Sequence: NM_144666
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000473019 ENST00000496802 ENST00000354685(uc001mdp.3) ENST00000477562
    ENST00000527990(uc001mds.1 uc001mdu.2) ENST00000472080(uc001mdq.3)
    ENST00000534210 ENST00000532027 ENST00000533649 ENST00000531903 ENST00000524401(uc001mdy.1)
    ENST00000526027(uc001mdx.1) ENST00000529821(uc001mea.4) ENST00000533635
    ENST00000525883(uc001meb.3 uc001mec.3 uc010rao.2) ENST00000530197
    ENST00000525080 ENST00000532467(uc009yfg.3)

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    Additional cDNA sequence: 

    AB231767.1 AB231768.1 AB231769.1 AB231770.1 AB231771.1 AB231772.1 AB231773.1 AB231774.1 
    AB231775.1 AB231776.1 AB231777.1 AB231778.1 AB290171.1 AK057314.1 AK074178.1 AK093028.1 
    AK096944.1 AK125885.1 AK128064.1 AL137619.1 AL137690.1 AL834222.1 AY358770.1 BC067363.1 
    BC082757.1 BC111765.1 BC117301.1 BC117303.1 BC143910.1 BX647806.1 BX648742.1 

    24/26 DOTS entries (see all 26):

    DT.70102532  DT.310037  DT.101981441  DT.101970375  DT.207691  DT.100020417  DT.120709546  DT.100748450 
    DT.120709512  DT.75167293  DT.91662421  DT.91995560  DT.99978241  DT.100704265  DT.91747672  DT.120709348 
    DT.99930453  DT.40108717  DT.91806687  DT.92026607  DT.95216789  DT.100648397  DT.100874303  DT.120709322 

    24/48 AceView cDNA sequences (see all 48):

    AL043670 AI678878 BC067363 AA736854 AL040892 BM727306 BC082757 AA737595 
    AL046528 AL046459 AA868982 AK128064 AL834222 BU557288 BX280814 AK057314 
    BM681684 NM_144666 AY358770 CD637123 AL137690 AL041887 AA954370 BG165349 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DNHD1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                        -                                                   
    SP2:                                                                                                            
    SP3:                    -     -     -                                                                           
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for DNHD1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCCGGCCGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DNHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNHD1

    SOURCE GeneReport for Unigene cluster: Hs.720080
        SABiosciences Custom PCR Arrays for DNHD1
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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DNHD1 gene from 3/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    DNHD16
    --
    40(a)
    27(a)
    possible ortholog
    possible ortholog
    GL343952.1(58739-69336)
    GL343952.1(39427-42769)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-11m19.56
    si:dkey-11m19.5
    17(a)
    1 ↔ 1
    11(12954936-12983628)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG146516
    --
    6(a)
    1 ↔ 1
    3R(306534-309943)


    ENSEMBL Gene Tree for DNHD1 (if available)
    TreeFam Gene Tree for DNHD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1396 NCBI SNPs in DNHD1 are shown (see all 1396    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401520591,2
    --6516604(+) ATTCTC/GTTTAG 2 -- us2k10--------
    rs1887182781,2
    --6516646(+) GTGAGA/GATGAT 2 -- us2k10--------
    rs27236551,2
    C,F,A,H,--6516755(-) TTGACT/GGAGCT 2 -- us2k111Minor allele frequency- G:0.48NA WA CSA EA 372
    rs1469577021,2
    --6516790(+) CAGCCA/GGGCAT 2 -- us2k10--------
    rs1931751821,2
    --6516803(+) TAGCTC/TGCGCC 2 -- us2k10--------
    rs1849822761,2
    --6516804(+) AGCTCA/GCGCCT 2 -- us2k10--------
    rs1882990301,2
    --6516806(+) CTCGCA/GCCTGT 2 -- us2k10--------
    rs1918497991,2
    --6516810(+) CGCCTA/GTAATC 2 -- us2k10--------
    rs1839692781,2
    --6516885(+) ACATAC/GTGAGA 2 -- us2k10--------
    rs1882530061,2
    --6516995(+) TGGGGG/TTATGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNHD1 (6518490 - 6614988 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for DNHD1
         1 CNV: 48869
         1 Indel: 71272

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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.)
    About This Section

    DNHD1 for disorders           About GeneDecksing

    3 diseases for DNHD1:    About MalaCards
    fanconi's anemia    anemia    malaria

    Human Genome Epidemiology (HuGE) Navigator: DNHD1 (1 document)

    Export disorders for DNHD1 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)
    About This Section

    PubMed articles for DNHD1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with DNHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)1, 2 Jikuya H....Ohara O. (2003)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. Polo-like kinase1 is required for recruitment of dyne in to kinetochores during mitosis. (PubMed id 21507953)1 Bader J.R....Vaughan K.T. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (2009)
    9. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)1 Matsuoka S.... Elledge S.J. (2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

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

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 144132 HGNC: 26532 AceView: FLJ32752 Ensembl:ENSG00000179532 euGenes: HUgn144132
    ECgene: DNHD1 H-InvDB: DNHD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNHD1 gene:
    Search GeneIP for patents involving DNHD1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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