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

ANKDD1A Gene

protein-coding   GIFtS: 41
GCID: GC15P065204

ankyrin repeat and death domain containing 1A
  Search for ANKDD1A
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 Human Malady Compendium 
Biological research products
for ANKDD1A    

Aliases
for ANKDD1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ankyrin Repeat And Death Domain Containing 1A1 2
FLJ258701
Ankyrin Repeat And Death Domain-Containing Protein 1A2

External Ids:    HGNC: 280021   Entrez Gene: 3480942   Ensembl: ENSG000001668397   UniProtKB: Q495B13   

Export aliases for ANKDD1A gene to outside databases

Previous GC identifers: GC15P062995 GC15P042029


Summaries
for ANKDD1A gene

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

Genomic Views
for ANKDD1A 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKDD1A gene promoter:
         USF1   p53   AML1a   MyoD   Tal-1beta   E2F-1   E2F   NRF-2   USF-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ANKDD1A promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKDD1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKDD1A


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

Entrez Gene cytogenetic band: 15q22.31   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.31

ANKDD1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKDD1A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P065204:  view genomic region     (about GC identifiers)

Start:
 65,204,101 bp from pter      End:
 65,251,042 bp from pter
Size:
 46,942 bases      Orientation:
 plus strand

Proteins
for ANKDD1A gene

(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: AKD1A_HUMAN, Q495B1 (See protein sequence)
Recommended Name: Ankyrin repeat and death domain-containing protein 1A  
Size: 522 amino acids; 57550 Da
Sequence caution: Sequence=BAC05399.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Sequence=BAC11532.1; Type=Erroneous translation; Note=Wrong choice of frame;
Secondary accessions: Q495B2 Q495B3 Q8N7A0 Q8NBS5
Alternative splicing: 4 isoforms:  Q495B1-5   Q495B1-2   Q495B1-6   Q495B1-1   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ANKDD1A: NX_Q495B1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q495B1

    • ANKDD1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_874362.3  
    ENSEMBL proteins: 
     ENSP00000369579   ENSP00000420999   ENSP00000427091   ENSP00000423548   ENSP00000379073  
     ENSP00000424692   ENSP00000350329   ENSP00000379070   ENSP00000325895  

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    Uscn Proteins for ANKDD1A


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    Uscn ELISAs and CLIAs for ANKDD1A

    Protein Domains /
    Families
    for ANKDD1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ANKDD1A for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011029 DEATH-like_dom
     IPR000488 Death_domain
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q495B1

    ProtoNet protein and cluster: Q495B1

    1 Blocks protein family: IPB000488 Death domain

    UniProtKB/Swiss-Prot: AKD1A_HUMAN, Q495B1
    Similarity: Contains 11 ANK repeats
    Similarity: Contains 1 death domain


    Function
    for ANKDD1A gene

    (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
    Products:            		 OriGene 3'-UTR Clone: ANKDD1A
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ANKDD1A:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmid: ANKDD1A 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Pathways & Interactions
    for ANKDD1A gene

    (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 ANKDD1A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IEA--


    ANKDD1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for ANKDD1A gene

    (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 ANKDD1A
    Search CenterWatch for drugs/clinical trials and news about ANKDD1A / AKD1A 

    Transcripts
    for ANKDD1A gene

    (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 ANKDD1A gene: 
    NM_182703.3  

    Unigene Cluster for ANKDD1A:

    Ankyrin repeat and death domain containing 1A
    Hs.207157  [show with all ESTs]
    Unigene Representative Sequence: NM_182703
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496480 ENST00000491145(uc002any.3 uc002anz.3 uc002aob.3)
    ENST00000380230(uc002aoa.3 uc010bha.3) ENST00000496660 ENST00000513267
    ENST00000483400 ENST00000395723 ENST00000487867(uc002aoc.3) ENST00000488082
    ENST00000357698 ENST00000395720(uc002anx.1) ENST00000319580

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ANKDD1A:
    hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmid: ANKDD1A 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: ANKDD1A
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    Clone
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    Additional cDNA sequence: 

    AK075298.1 AK092151.1 AK098736.1 AK307698.1 BC027350.1 BC042002.1 BC047571.1 BC047607.2 
    BC101273.1 BC101274.1 BC101275.1 BC101276.1 BC110610.1 BC141931.1 

    10 DOTS entries:

    DT.404921  DT.97836049  DT.108358  DT.100746810  DT.91941545  DT.86843129  DT.409354  DT.99960393 
    DT.86839875  DT.91745509 

    24/67 AceView cDNA sequences (see all 67):

    AA868141 AI819323 AA948454 BF002716 BX116779 BC047607 CB157867 AA970507 
    NM_182703 AI313488 AI123831 BM903530 BC027350 BM920115 BG028897 BQ187254 
    BQ010852 AL120630 AI934730 AI393687 R78829 AI123391 BC042002 AA723904 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANKDD1A (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for ANKDD1A

    Expression
    for ANKDD1A gene

    (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

    ANKDD1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAGCACAA

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

    ANKDD1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Definitive endoderm-like cells (Generation of mesend...)
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ANKDD1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKDD1A

    SOURCE GeneReport for Unigene cluster: Hs.207157
        SABiosciences Custom PCR Arrays for ANKDD1A
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    In Situ
    Assay Products:     
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    Orthologs
    for ANKDD1A gene

    (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 ANKDD1A gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ANKDD1A1 ankyrin repeat and death domain containing 1A 67.23(n)
    65.53(a)    		   415525  XM_413894.3  XP_413894.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ANKDD1A6
    		 --
    		 60(a)
    		 1 ↔ 1
    		 GL343392.1(365990-379502)
    African clawed frog
    (Xenopus laevis)    		 Amphibia CD301326.12   -- 71.06(n)    CD301326.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1005356321 ankyrin repeat and death domain-containing protein more 63.11(n)
    59.06(a)    		   100535632  XM_003198900.1  XP_003198948.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    --
    		 --
    		 23(a)
    22(a)
    		 1 ↔ many
    possible ortholog
    		 Group13.6(145954-151613)
    Group1.51(1138355-1139313)


    ENSEMBL Gene Tree for ANKDD1A (if available)
    TreeFam Gene Tree for ANKDD1A (if available) 

    Paralogs
    for ANKDD1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKDD1A gene
    MIB12  MIB22  ANKDD1B2  ANKRD62  
    18/44 SIMAP similar genes for ANKDD1A using alignment to 6 protein entries:     AKD1A_HUMAN (see all proteins) (see all similar genes):
    CNOT2    C12orf23    IkBa    ANKRD16    ANK3    ANKRD50
    PSMD10    ANKDD1B    DKFZp434B2328    DKFZp761E1322    MTPN    PPP1R12A
    ASB14    KIDINS220    RIPK4    NRARP    ANKHD1    ANKRD17

    ANKDD1A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ANKDD1A
    PGOHUM00000251381


    Genomic Variants
    for ANKDD1A gene

    (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

    10/1161 NCBI SNPs in ANKDD1A are shown (see all 1161)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1887433031,2
    		--65202206(+) AAACAA/GAATAA 1 -- us2k10--------
    rs748330701,2
    		C,F,--65202301(+) TAGTGG/AGATGT 1 -- us2k12Minor allele frequency- A:0.05WA EA 238
    rs1117615901,2
    		C,--65202497(+) GTGTGG/ATGGCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1815702181,2
    		--65202519(+) TCCCAG/TCTACT 1 -- us2k10--------
    rs1854265501,2
    		--65202656(+) AAAAGC/GGGGGG 1 -- us2k10--------
    rs1887229181,2
    		--65202795(+) AAATTA/GTCCAG 1 -- us2k10--------
    rs1807680871,2
    		--65202887(+) CAGTGA/GGCCGA 1 -- us2k10--------
    rs1860999801,2
    		--65202921(+) TGGGCA/GAAAGA 1 -- us2k10--------
    rs124378241,2
    		C,F,A,H,--65202959(+) ATCATA/GTCTTT 1 -- us2k118Minor allele frequency- G:0.21NS EA NA WA 2344
    rs1911014561,2
    		--65203008(+) AGGGGC/TTGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ANKDD1A (65204101 - 65251042 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ANKDD1A: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKDD1A
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKDD1A

    Disorders / Diseases
    for ANKDD1A gene

    (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
    		   --

    Publications
    for ANKDD1A gene

    (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 ANKDD1A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ANKDD1A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1 Gieger C....Soranzo N. (2011)
    3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    External Searches for ANKDD1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing ANKDD1A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 348094 HGNC: 28002 AceView: LOC348094 Ensembl:ENSG00000166839 euGenes: HUgn348094
    ECgene: ANKDD1A H-InvDB: ANKDD1A

    Other Databases showing ANKDD1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ANKDD1A gene

    (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 ANKDD1A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ANKDD1A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ANKDD1A gene:
    Search GeneIP for patents involving ANKDD1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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