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

AHDC1 Gene

protein-coding   GIFtS: 43
GCID: GC01M027860

AT hook, DNA binding motif, containing 1

 Explore 1 disease affiliated with
AHDC1 via our new
 Human Malady Compendium 
Biological research products
for AHDC1
    

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

Aliases
AT Hook, DNA Binding Motif, Containing 11 2
DJ159A19.31 2
RP1-159A19.11 2
CL239452
A.T Hook DNA-Binding Motif-Containing Protein 12
AT-Hook DNA-Binding Motif-Containing Protein 12

External Ids:    HGNC: 252301   Entrez Gene: 272452   Ensembl: ENSG000001267057   UniProtKB: Q5TGY33   

Export aliases for AHDC1 gene to outside databases

Previous GC identifers: GC01M027546 GC01M027733 GC01M026116


(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_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AHDC1 gene promoter:
         NRSF form 1   LUN-1   Nkx5-1   NRSF form 2   c-Ets-1   GATA-2   RORalpha1   AREB6   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAHDC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AHDC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AHDC1


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.13

AHDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AHDC1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M027860:  view genomic region     (about GC identifiers)

Start:
27,860,546 bp from pter      End:
27,930,942 bp from pter
Size:
70,397 bases      Orientation:
minus 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: AHDC1_HUMAN, Q5TGY3 (See protein sequence)
Recommended Name: AT-hook DNA-binding motif-containing protein 1  
Size: 1603 amino acids; 168349 Da
Sequence caution: Sequence=AAB50205.1; Type=Frameshift; Positions=1331; Sequence=BAC86163.1; Type=Erroneous initiation;
Sequence=CAI19618.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5TGY4 Q6PJK1 Q6ZUQ6 Q99769 Q9NUF5

Explore the universe of human proteins at neXtProt for AHDC1: NX_Q5TGY3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5TGY3

  • AHDC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001025053.1  
    ENSEMBL proteins: 
     ENSP00000247087   ENSP00000384021   ENSP00000363123  

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    Uscn Proteins for AHDC1


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

    AHDC1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR017956 AT_hook_DNA-bd_motif

    Graphical View of Domain Structure for InterPro Entry Q5TGY3

    ProtoNet protein and cluster: Q5TGY3

    UniProtKB/Swiss-Prot: AHDC1_HUMAN, Q5TGY3
    Similarity: Contains 2 A.T hook DNA-binding domains


    (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-300 hsa-miR-765 hsa-miR-374a hsa-miR-507 hsa-miR-29b-1* hsa-miR-548l hsa-miR-374c hsa-miR-9
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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:0003677DNA binding IEA--


    AHDC1 for ontologies           About GeneDecksing



    (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 AHDC1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for AHDC1 (Q5TGY32, 3 ENSP000002470874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2872173 MINT-2872154 I2D: score=3 STRING: ENSP00000244769
    ITSN2ENSP000003472444STRING: ENSP00000347244
    CBX5ENSP000002098754STRING: ENSP00000209875
    CBX6ENSP000003844904STRING: ENSP00000384490
    About this table

    (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 AHDC1
    Search CenterWatch for drugs/clinical trials and news about AHDC1 

    (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 AHDC1 gene: 
    NM_001029882.2  

    Unigene Cluster for AHDC1:

    AT hook, DNA binding motif, containing 1
    Hs.469280  [show with all ESTs]
    Unigene Representative Sequence: NM_001029882
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247087 ENST00000482400(uc001boh.1) ENST00000407475 ENST00000487743
    ENST00000490295 ENST00000479753 ENST00000480033 ENST00000374011(uc009vsy.3 uc009vsz.1)


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    hsa-miR-300 hsa-miR-765 hsa-miR-374a hsa-miR-507 hsa-miR-29b-1* hsa-miR-548l hsa-miR-374c hsa-miR-9
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    OriGene siRNA: AHDC1
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AHDC1
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    Additional cDNA sequence: 

    AK125431.1 BC002677.2 BC014394.1 BC064935.1 U79259.1 

    6 DOTS entries:

    DT.442557  DT.99947564  DT.102823003  DT.210044  DT.100746075  DT.40195032 

    24/121 AceView cDNA sequences (see all 121):

    AW628710 BF434367 BU949869 CA393712 AW069028 BX114728 AK125431 AI521992 
    AA688390 AI017655 AI971666 AA856845 AW166358 BF933000 BC014394 AA927142 
    BC064935 BG055913 CD675468 AA514886 BC002677 AI933793 AI754203 T60121 

    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

    AHDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGGGGGGA

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

    About this image
    See AHDC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AHDC1

    SOURCE GeneReport for Unigene cluster: Hs.469280
        SABiosciences Custom PCR Arrays for AHDC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHDC1

    (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 AHDC1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ahdc11 , 5 AT hook, DNA binding motif, containing 11, 5 88.18(n)1
    95.36(a)1
      4 (66.18 cM)5
    2307931  NM_146155.31  NP_666267.31 
     1330112605 
    chicken
    (Gallus gallus)
    Aves LOC1008590231 AT-hook DNA-binding motif-containing protein 1-like less 75.75(n)
    74.29(a)
      100859023  XM_003643517.1  XP_003643565.1 
    lizard
    (Anolis carolinensis)
    Reptilia AHDC16
    --
    64(a)
    1 ↔ 1
    GL343464.1(439490-443980)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.146962 Xenopus laevis transcribed sequence with weak similarity to protein refNP_056514.1 (H.sapiens) hypothetical protein DJ159A19.3 [Homo sapiens] less 78.13(n)    BJ057778.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ahdc16
    AT hook, DNA binding motif, containing 1
    35(a)
    1 ↔ 1
    19(45083353-45144251)


    ENSEMBL Gene Tree for AHDC1 (if available)
    TreeFam Gene Tree for AHDC1 (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

    10/955 NCBI SNPs in AHDC1 are shown (see all 955    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1501169271,2
    --27860499(+) AGAATC/TCCTGG 1 -- int10--------
    rs1385650981,2
    --27860519(+) TGAACG/TCATGA 1 -- int10--------
    rs1417734191,2
    --27860544(+) GTCCTC/TGGCAG 1 -- int10--------
    rs1862368891,2
    --27860704(+) CCAGCA/GGTGTC 1 -- int10--------
    rs1135771901,2
    C--27860772(+) TTTTTG/TTTTTT 1 -- ut310--------
    rs1898659171,2
    --27860842(+) GTGTCC/TTGCCA 1 -- ut310--------
    rs1825017311,2
    --27860867(+) CAACAA/GCAACA 1 -- ut310--------
    rs1380121321,2
    --27860948(+) CCCCCC/GACCAT 1 -- ut310--------
    rs1883620461,2
    --27861076(+) TGTAGA/TTAAAT 1 -- ut310--------
    rs1427070551,2
    --27861130(+) CGCTCA/GCAACC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for AHDC1 (27860546 - 27930942 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for AHDC1
         1 CNV: 53092
         2 Indels: 63345 59924

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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

    AHDC1 for disorders           About GeneDecksing

    1 disease for AHDC1:    About MalaCards
    ataxia


    Export disorders for AHDC1 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 AHDC1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with AHDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2, 3 Yu W.... Gibbs R.A. (1997)
    2. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    3. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    7. Human POGZ modulates dissociation of HP1alpha from mi totic chromosome arms through Aurora B activation. (PubMed id 20562864)1 Nozawa R.S....Obuse C. (2010)
    8. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)

    (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: 27245 HGNC: 25230 AceView: DJ159A19.3 Ensembl:ENSG00000126705 euGenes: HUgn27245
    ECgene: AHDC1 H-InvDB: AHDC1

    (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 AHDC1 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 AHDC1 gene:
    Search GeneIP for patents involving AHDC1

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    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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