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ANKRD53 Gene

protein-coding   GIFtS: 49
GCID: GC02P071205

Ankyrin Repeat Domain 53

  Search for ANKRD53
at  

(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
Ankyrin Repeat Domain 531 2
Ankyrin Repeat Domain-Containing Protein 532

External Ids:    HGNC: 256911   Entrez Gene: 799982   Ensembl: ENSG000001440317   UniProtKB: Q8N9V63   

Export aliases for ANKRD53 gene to outside databases

Previous GC identifers: GC02P071059 GC02P070942


(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 ANKRD53 Gene:
ANKRD53 (ankyrin repeat domain 53) is a protein-coding gene.


(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:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD53 gene promoter:
         AhR   FOXO3   MyoD   FOXD1   STAT5A   NF-kappaB   Arnt   Pax-3   FOXO4   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD53 promoter sequence
   Search Chromatin IP Primers for ANKRD53

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD53


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

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13.3

ANKRD53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD53 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P071205:  view genomic region     (about GC identifiers)

Start:
71,205,510 bp from pter      End:
71,212,629 bp from pter
Size:
7,120 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ANR53_HUMAN, Q8N9V6 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 53  
Size: 530 amino acids; 59571 Da
Secondary accessions: Q8IYP8
Alternative splicing: 2 isoforms:  Q8N9V6-1   Q8N9V6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKRD53: NX_Q8N9V6

Explore proteomics data for ANKRD53 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD53 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001108588.1  NP_079209.3  

    ENSEMBL proteins: 
     ENSP00000272421   ENSP00000388883   ENSP00000407004   ENSP00000353796  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8N9V6

    ProtoNet protein and cluster: Q8N9V6

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANR53_HUMAN, Q8N9V6
    Similarity: Contains 3 ANK repeats


    ANKRD53 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ANKRD53 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ANKRD53:
     Decreased viability of wild-ty 

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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKRD53
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD53

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ANKRD53 (Q8N9V63 ENSP000003537964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LZTR1Q8N6533, ENSP000002157394I2D: score=1 STRING: ENSP00000215739
    About this table

    (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 ANKRD53 (ANR53)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANKRD53 gene (2 alternative transcripts): 
    NM_001115116.1  NM_024933.3  

    Unigene Cluster for ANKRD53:

    Ankyrin repeat domain 53
    Hs.512744  [show with all ESTs]
    Unigene Representative Sequence: NM_024933
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272421(uc002shk.4 uc002shl.4) ENST00000441349 ENST00000457410
    ENST00000360589 ENST00000483334 ENST00000496088 ENST00000460927
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      QuantiFast Probe-based Assays in human, mouse, rat ANKRD53

    Additional mRNA sequence: 

    AK093479.1 BC035234.1 

    6 DOTS entries:

    DT.100750007  DT.207400  DT.100750008  DT.40237673  DT.92046962  DT.99944750 

    Selected AceView cDNA sequences (see all 38):

    BQ024442 CR604385 AA907941 BM674087 BI831592 AA020896 AK022118 BM715646 
    AI168635 AU121084 AK093479 BM563169 BX327240 CA448528 BM724292 AL566557 
    AX748154 NM_024933 BX327239 BX398496 BC035234 BX398495 AL536905 AI222155 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD53 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7
    SP1:                    -                                   -                           
    SP2:                    -                                   -           -     -         
    SP3:                    -     -                 -     -     -                           
    SP4:                                                                                    
    SP5:                                      -     -     -     -                           


    ECgene alternative splicing isoforms for ANKRD53

    (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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    ANKRD53 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCTGCGTG
    ANKRD53 Expression
    About this image

    ANKRD53 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD53 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512744
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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 chordates.

    Orthologs for ANKRD53 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd531 , 5 ankyrin repeat domain 531, 5 70.06(n)1
    58.29(a)1
      6 (35.94 cM)5
    753051  NM_029245.31  NP_083521.21 
     837626465 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD536
    ankyrin repeat domain 53
    31(a)
    1 ↔ 1
    GL343540.1(6876-12232)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017329701 ankyrin repeat domain-containing protein 53-like 48.64(n)
    39.37(a)
      101732970  XM_004916428.1  XP_004916485.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5677921 ankyrin repeat domain-containing protein 53-like 48.43(n)
    37.02(a)
      567792  XM_691094.5  XP_696186.2 


    ENSEMBL Gene Tree for ANKRD53 (if available)
    TreeFam Gene Tree for ANKRD53 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD53 gene
    2 SIMAP similar genes for ANKRD53 using alignment to 3 protein entries:     ANR53_HUMAN (see all proteins):
    CDKN2A    ANKRD10

    ANKRD53 for paralogs           About GeneDecksing



    (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 ANKRD53 (see all 254)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420126691,2
    --71203750(+) ATTAGC/TGAACA 2 -- us2k10--------
    rs1463696901,2
    --71203830(+) CACAGA/GTAGTG 2 -- us2k10--------
    rs1396578861,2
    --71203844(+) CTCTGC/TTAGCA 2 -- us2k10--------
    rs1815074651,2
    --71203914(+) TGCTGC/TTGTAG 2 -- us2k10--------
    rs1445121751,2
    C--71204180(+) GTCACA/GTGTCC 2 -- us2k10--------
    rs1858867211,2
    C--71204192(+) CCGGAC/GAGGGG 2 -- us2k10--------
    rs24186531,2
    C,A,H--71204246(+) gggacG/Aggggg 2 -- us2k1 trp32Minor allele frequency- A:0.00NA 4
    rs30697301,2
    C--71204274(+) GAGAG-/AGGACAG 2 -- us2k11Minor allele frequency- AG:0.00NA 2
    rs1897738801,2
    --71204286(+) CTTACC/GCCATT 2 -- us2k10--------
    rs1817905361,2
    --71204435(+) TTAGGC/GCTCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ANKRD53 (71205510 - 71212629 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ANKRD53:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517881CNV Loss19592680
    nsv874253CNV Gain21882294

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    ANKRD53 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ANKRD53

    Export disorders for ANKRD53 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 ANKRD53 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD53)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (Cell 2010)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 79998 HGNC: 25691 AceView: FLJ12056 Ensembl:ENSG00000144031 euGenes: HUgn79998
    ECgene: ANKRD53 H-InvDB: ANKRD53

    (According to HUGE)
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      --

    (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 ANKRD53 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 ANKRD53 gene:
    Search GeneIP for patents involving ANKRD53

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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