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

AXDND1 Gene

protein-coding   GIFtS: 39
GCID: GC01P179335

axonemal dynein light chain domain containing 1

(Previous name: chromosome 1 open reading frame 125 )
(Previous symbol: C1orf125)
 Explore 3 diseases affiliated with
AXDND1 via our new
 Human Malady Compendium 
Biological research products
for AXDND1
    

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

Aliases
Axonemal Dynein Light Chain Domain Containing 11 2
C1orf1251 2 3
FLJ329401
Chromosome 1 Open Reading Frame 1251
RP11-215I23.22
Axonemal Dynein Light Chain Domain-Containing Protein 12

External Ids:    HGNC: 265641   Entrez Gene: 1268592   Ensembl: ENSG000001627797   UniProtKB: Q5T1B03   

Export aliases for AXDND1 gene to outside databases


(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AXDND1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for AXDND1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AXDND1


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

Entrez Gene cytogenetic band: 1q25.2   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25.2

AXDND1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AXDND1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P179335:  view genomic region     (about GC identifiers)

Start:
179,334,855 bp from pter      End:
179,523,870 bp from pter
Size:
189,016 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: AXDN1_HUMAN, Q5T1B0 (See protein sequence)
Recommended Name: Axonemal dynein light chain domain-containing protein 1  
Size: 1012 amino acids; 118027 Da
Sequence caution: Sequence=CAH10571.1; Type=Frameshift; Positions=655;
Secondary accessions: Q6AWB2 Q96LJ3 Q96M01
Alternative splicing: 3 isoforms:  Q5T1B0-1   Q5T1B0-2   Q5T1B0-3   

Explore the universe of human proteins at neXtProt for AXDND1: NX_Q5T1B0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T1B0

  • AXDND1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653297.3  
    ENSEMBL proteins: 
     ENSP00000425019   ENSP00000356590   ENSP00000427142   ENSP00000422992   ENSP00000424337  
     ENSP00000425198   ENSP00000424373   ENSP00000391716   ENSP00000416712  

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

    AXDND1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019347 Axonemal_dynein_light_chain

    Graphical View of Domain Structure for InterPro Entry Q5T1B0

    ProtoNet protein and cluster: Q5T1B0


    (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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    (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 AXDND1

    (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 AXDND1
    Search CenterWatch for drugs/clinical trials and news about AXDND1 / AXDN1 

    (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,
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    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 AXDND1 gene (2 alternative transcripts): 
    NM_182766.2  NM_144696.5  

    Unigene Cluster for AXDND1:

    Axonemal dynein light chain domain containing 1
    Hs.658505  [show with all ESTs]
    Unigene Representative Sequence: BX647935
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509175 ENST00000367618(uc001gmo.3 uc021pfj.1) ENST00000507383
    ENST00000508229 ENST00000508285 ENST00000511889 ENST00000510593 ENST00000511157(uc009wxg.3 uc009wxh.3)
    ENST00000461179 ENST00000434088 ENST00000484883 ENST00000484455 ENST00000489080(uc001gmr.3)
    ENST00000457238(uc001gmn.2 uc010pnl.2)

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    Additional cDNA sequence: 

    AK058167.1 AK302972.1 AL833914.1 BC146823.1 BX647935.1 NR_073544.1 

    12 DOTS entries:

    DT.100659451  DT.101979466  DT.95305999  DT.95230437  DT.121446580  DT.95086529  DT.121446605  DT.209681 
    DT.70101401  DT.86675012  DT.95322140  DT.121446531 

    24/26 AceView cDNA sequences (see all 26):

    BX647935 AK058167 AW663973 NM_144696 NM_182766 AK057502 AA393293 AW835459 
    BX506303 AA398634 AI688134 BU568958 AL833914 BI520346 AK093460 BI831348 
    BI520711 BP371239 AI015507 AA621738 AA770258 AI243879 AA776793 AA725831 

    GeneLoc Exon Structure


    (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

    AXDND1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCCACCCA

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

    About this image
    See AXDND1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AXDND1

    SOURCE GeneReport for Unigene cluster: Hs.658505
        SABiosciences Custom PCR Arrays for AXDND1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AXDND1

    (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 chordates.

    Orthologs for AXDND1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Axdnd11 , 5 RIKEN cDNA 9430070O13 gene5
    axonemal dynein light chain domain containing 11
    76.31(n)1
    66.07(a)1
      1 (67.71 cM)5
    773521  XM_003688771.11  XP_003688819.11 
     1563235095 
    chicken
    (Gallus gallus)
    Aves AXDND16
    Uncharacterized protein
    44(a)
    1 ↔ 1
    8(6456362-6462148)
    lizard
    (Anolis carolinensis)
    Reptilia AXDND16
    --
    42(a)
    1 ↔ 1
    GL343300.1(958109-1018563)
    zebrafish
    (Danio rerio)
    Actinopterygii axdnd11 axonemal dynein light chain domain containing 1 49.64(n)
    36.82(a)
      557839  NM_001089377.1  NP_001082846.1 


    ENSEMBL Gene Tree for AXDND1 (if available)
    TreeFam Gene Tree for AXDND1 (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

    10/4004 NCBI SNPs in AXDND1 are shown (see all 4004    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs791237801,2
    --150628701(+) CATCCC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs64255361,2
    C,F,A,H,--179333098(+) CGAATT/ATCTCA 1 -- us2k117Minor allele frequency- A:0.11EA NS NA WA 1270
    rs1432001881,2
    --179333135(+) TAGCCA/GTAATT 1 -- us2k10--------
    rs1471261891,2
    --179333154(+) ACAGAA/GGAGAA 1 -- us2k10--------
    rs75420991,2
    C,F,A,H,--179333194(+) GCACTG/CTACTT 1 -- us2k115Minor allele frequency- C:0.10NS EA NA WA CSA 675
    rs1885712821,2
    --179333454(+) CTGGGC/TGTGGT 1 -- us2k10--------
    rs1383157481,2
    --179333489(+) CTAGGA/GAGGCT 1 -- us2k10--------
    rs107986691,2
    C,--179333872(+) GTCAGT/GCTGGT 1 -- us2k13Minor allele frequency- G:0.00NA CSA 5
    rs1492541291,2
    --179333940(+) AGGCGC/TGAGCC 1 -- us2k10--------
    rs1158841461,2
    --179333949(+) CCACCG/TGCCGC 1 -- us2k11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for AXDND1 (179334855 - 179523870 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AXDND1: --

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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

    AXDND1 for disorders           About GeneDecksing

    3 diseases for AXDND1:    About MalaCards
    essential hypertension    multiple sclerosis    hypertension


    Export disorders for AXDND1 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 AXDND1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with AXDND1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (2004)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    4. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    5. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1 Ehret G.B....Chakravarti A. (2009)
    6. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1 Baranzini S.E....Oksenberg J.R. (2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 126859 HGNC: 26564 AceView: DKFZp686H1423 Ensembl:ENSG00000162779 euGenes: HUgn126859
    ECgene: AXDND1 H-InvDB: AXDND1

    (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 AXDND1 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 AXDND1 gene:
    Search GeneIP for patents involving AXDND1

    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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    About This Section

     
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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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    VWF
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    von Willebrand factor
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