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ANKMY1 Gene

protein-coding   GIFtS: 47
GCID: GC02M241438

Ankyrin Repeat And MYND Domain Containing 1

  Search for ANKMY1
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 And MYND Domain Containing 11 2     Ankyrin Repeat And MYND Domain-Containing Protein 12
Testis-Specific Ankyrin-Like Protein 12 3     Testis Specific Ankyrin-Like Protein 12
Zinc Finger MYND Domain-Containing Protein 132 3     TSAL13
ZMYND132 3     

External Ids:    HGNC: 209871   Entrez Gene: 512812   Ensembl: ENSG000001445047   UniProtKB: Q9P2S63   

Export aliases for ANKMY1 gene to outside databases

Previous GC identifers: GC02M241739 GC02M241138 GC02M233174


(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 ANKMY1 Gene:
ANKMY1 (ankyrin repeat and MYND domain containing 1) 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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKMY1 gene promoter:
         COUP-TF1   COUP-TF   COUP   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANKMY1 promoter sequence
   Search Chromatin IP Primers for ANKMY1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKMY1


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

ANKMY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKMY1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M241438:  view genomic region     (about GC identifiers)

Start:
241,418,839 bp from pter      End:
241,508,626 bp from pter
Size:
89,788 bases      Orientation:
minus 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: ANKY1_HUMAN, Q9P2S6 (See protein sequence)
Recommended Name: Ankyrin repeat and MYND domain-containing protein 1  
Size: 941 amino acids; 105516 Da
Secondary accessions: B2RB78 Q4ZFV3 Q8IYX5 Q8NDK5 Q9H0V8 Q9NX10
Alternative splicing: 4 isoforms:  Q9P2S6-1   Q9P2S6-2   Q9P2S6-3   Q9P2S6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKMY1: NX_Q9P2S6

Explore proteomics data for ANKMY1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKMY1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001269700.1  NP_001269709.1  NP_001269710.1  NP_057636.2  NP_060314.2  

    ENSEMBL proteins: 
     ENSP00000362415   ENSP00000384555   ENSP00000272972   ENSP00000355097   ENSP00000383968  
     ENSP00000385887   ENSP00000385267   ENSP00000375848   ENSP00000385635   ENSP00000385145  
     ENSP00000405938   ENSP00000404095   ENSP00000407015   ENSP00000412094   ENSP00000404337  
     ENSP00000375847   ENSP00000362417   ENSP00000444707  

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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:
    ZMYND: Zinc fingers, MYND-type
    ANKRD: Ankyrin repeat domain containing

    4 InterPro protein domains:
     IPR002893 Znf_MYND
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom
     IPR003409 MORN

    Graphical View of Domain Structure for InterPro Entry Q9P2S6

    ProtoNet protein and cluster: Q9P2S6

    1 Blocks protein domain: IPB002893 Zn-finger

    UniProtKB/Swiss-Prot: ANKY1_HUMAN, Q9P2S6
    Similarity: Contains 7 ANK repeats
    Similarity: Contains 3 MORN repeats
    Similarity: Contains 1 MYND-type zinc finger


    Find genes that share domains with ANKMY1           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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ANKMY1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ANKMY1:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKMY1
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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
    cytosol2
    nucleus2

    (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 ANKMY1
    Interactions:

        Search GeneGlobe Interaction Network for ANKMY1

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

    Selected Interacting proteins for ANKMY1 (ENSP000002729724) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOC4ENSP000002538614STRING: ENSP00000253861
    SACM1LENSP000003737134STRING: ENSP00000373713
    TADA3ENSP000003076844STRING: ENSP00000307684
    EXOC6ENSP000002607624STRING: ENSP00000260762
    EXOC6BENSP000002724274STRING: ENSP00000272427
    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 ANKMY1 (ANKY1)



    (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 ANKMY1 gene (5 alternative transcripts): 
    NM_001282771.1  NM_001282780.1  NM_001282781.1  NM_016552.3  NM_017844.3  

    Unigene Cluster for ANKMY1:

    Ankyrin repeat and MYND domain containing 1
    Hs.656615  [show with all ESTs]
    Unigene Representative Sequence: AK126637
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000373318 ENST00000406958(uc002vzb.1) ENST00000272972(uc002vyz.1)
    ENST00000361678(uc002vza.1) ENST00000403283(uc002vzd.1) ENST00000401804
    ENST00000407275 ENST00000489677 ENST00000391988 ENST00000405523 ENST00000405002(uc002vze.3)
    ENST00000480230 ENST00000484526(uc010fze.2) ENST00000459901 ENST00000496300
    ENST00000441168 ENST00000443318 ENST00000462004
    miRNA
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ANKMY1

    Additional mRNA sequence: 

    AB034636.1 AK000506.1 AK056511.2 AK124879.1 AK126637.1 AK225534.1 AK296714.1 AK314534.1 
    AL136618.1 AL833866.1 BC033495.1 BC036111.1 BC073146.1 CR936600.1 CR936759.1 

    13 DOTS entries:

    DT.91678013  DT.40199576  DT.99935140  DT.100705602  DT.100642715  DT.120929792  DT.97822441  DT.100722470 
    DT.102830111  DT.120929821  DT.403695  DT.75101241  DT.91681550 

    2 AceView cDNA sequences:

    NM_017844 NM_016552 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANKMY1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ANKMY1

    (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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    ANKMY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTAGCA
    ANKMY1 Expression
    About this image

    ANKMY1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKMY1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656615
        Custom PCR Arrays for ANKMY1
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    In Situ
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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 ANKMY1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankmy11 ankyrin repeat and MYND domain containing 1 73.58(n)
    68.13(a)
      241158  NM_172850.3  NP_766438.2 
    chicken
    (Gallus gallus)
    Aves ANKMY11 ankyrin repeat and MYND domain containing 1 58.56(n)
    53.32(a)
      417300  XM_004945752.1  XP_004945809.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKMY16
    ankyrin repeat and MYND domain containing 1
    41(a)
    1 ↔ 1
    3(29812882-29867475)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ankmy11 ankyrin repeat and MYND domain containing 1 56.46(n)
    51.25(a)
      100036649  NM_001097207.1  NP_001090676.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ankmy11 ankyrin repeat and MYND domain containing 1 49.5(n)
    41.42(a)
      568987  XM_692348.5  XP_697440.1 


    ENSEMBL Gene Tree for ANKMY1 (if available)
    TreeFam Gene Tree for ANKMY1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKMY1 gene
    3 SIMAP similar genes for ANKMY1 using alignment to 14 protein entries:     ANKY1_HUMAN (see all proteins):
    DKFZp686L21237    MORN2    MORN4

    Find genes that share paralogs with ANKMY1           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 ANKMY1 (see all 1754)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1432619841,2
    --241418339(+) CTGTCA/GTCCTT 2 -- int10--------
    rs1891124961,2
    --241418376(+) CTTCCC/TCTGCC 2 -- int10--------
    rs64373461,2
    C,F,A,H--241418554(+) CCGCAG/AACCCC 2 -- int116Minor allele frequency- A:0.15NA WA CSA EA 519
    rs1482996141,2
    --241418563(+) CCAGTA/GGGAGC 2 -- int10--------
    rs1920416421,2
    --241418611(+) GCTGCC/TGCGGG 2 -- int10--------
    rs116949381,2
    C,F,H--241418613(+) TGCCGC/TGGGCT 2 -- int13Minor allele frequency- T:0.10NA WA 242
    rs731040811,2
    C,F--241418717(+) CGTCCG/ATCAGG 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1137282841,2
    F--241418807(+) CTGGGG/ACTTTG 2 -- int11Minor allele frequency- A:0.50CSA 4
    rs1844499591,2
    --241418893(+) AGACAC/TTGCTA 2 -- ut310--------
    rs40730201,2
    C--241418924(-) GGCATT/GTCTGC 2 -- ut31 ese31Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for ANKMY1 (241418839 - 241508626 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANKMY1 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721934CNV Deletion23290073
    nsv508899CNV Insertion20534489
    esv1184193CNV Insertion17803354
    nsv3239CNV Insertion18451855
    nsv819352CNV Loss19587683
    nsv876116CNV Loss21882294
    nsv438384CNV Loss16468122
    dgv4475n71CNV Loss21882294
    nsv876157CNV Loss21882294
    dgv4471n71CNV Loss21882294

    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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    Find genes that share disorders with ANKMY1           About GenesLikeMe

    Genetic Association Database (GAD): ANKMY1
    Human Genome Epidemiology (HuGE) Navigator: ANKMY1 (2 documents)

    Export disorders for ANKMY1 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 ANKMY1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ANKMY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men. (PubMed id 19141999)4 Giedraitis V....Glaser A. (Dement Geriatr Cogn Disord 2009)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. 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)
    8. 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)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)2 Wiemann S.... Poustka A. (Genome Res. 2001)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51281 HGNC: 20987 AceView: ANKMY1 Ensembl:ENSG00000144504 euGenes: HUgn51281
    ECgene: ANKMY1 H-InvDB: ANKMY1

    (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 ANKMY1 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 ANKMY1 gene:
    Search GeneIP for patents involving ANKMY1

    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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