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ANKDD1A Gene

protein-coding   GIFtS: 42
GCID: GC15P065204

Ankyrin Repeat And Death Domain Containing 1A

  Search for ANKDD1A
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 Death Domain Containing 1A1 2
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


(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 ANKDD1A Gene:
ANKDD1A (ankyrin repeat and death domain containing 1A) is a protein-coding gene. An important paralog of this gene is MIB1.


(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_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 plasmidANKDD1A promoter sequence
   Search Chromatin IP Primers for ANKDD1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(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: 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

Explore proteomics data for ANKDD1A at MOPED


See ANKDD1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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Cloud-Clone Corp. Proteins for ANKDD1A

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LSBio Antibodies in human, mouse, rat for ANKDD1A

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Cloud-Clone Corp. ELISAs for ANKDD1A
Cloud-Clone Corp. CLIAs for ANKDD1A


(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

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

Graphical View of Domain Structure for InterPro Entry Q495B1

ProtoNet protein and cluster: Q495B1

1 Blocks protein domain: IPB000488 Death domain

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


ANKDD1A 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 ----
     
ANKDD1A for ontologies           About GeneDecksing


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKDD1A
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miRNA
Products:
    
Block miRNA regulation of human, mouse, rat ANKDD1A using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate ANKDD1A:
hsa-miR-3658
SwitchGear 3'UTR luciferase reporter plasmidANKDD1A 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ANKDD1A
Predesigned siRNA for gene silencing in human, mouse, rat ANKDD1A

Gene Editing
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Clone
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OriGene clones in human, mouse for ANKDD1A (see all 7)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: ANKDD1A (NM_182703)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKDD1A
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKDD1A

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKDD1A


(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
cytosol1
nucleus1
peroxisome1

(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 ANKDD1A
Interactions:

    Search GeneGlobe Interaction Network for ANKDD1A

Gene Ontology (GO): 1 biological process term:    About this table

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

ANKDD1A for ontologies           About GeneDecksing



(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 ANKDD1A (AKD1A)



(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 ANKDD1A gene: 
NM_182703.4  

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
Products:
     
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1 qRT-PCR Assays for microRNA that regulate ANKDD1A:
hsa-miR-3658
SwitchGear 3'UTR luciferase reporter plasmidANKDD1A 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for ANKDD1A
Predesigned siRNA for gene silencing in human, mouse, rat ANKDD1A
Clone
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GenScript: all cDNA clones in your preferred vector: ANKDD1A (NM_182703)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANKDD1A
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKDD1A
Primer
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OriGene qPCR primer pairs and template standards for ANKDD1A
OriGene qSTAR qPCR primer pairs in human, mouse for ANKDD1A
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ANKDD1A
  QuantiTect SYBR Green Assays in human, mouse, rat ANKDD1A
  QuantiFast Probe-based Assays in human, mouse, rat ANKDD1A

Additional mRNA 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 

Selected AceView cDNA sequences (see all 67):

AI123831 AA948454 CB157867 BX116779 AI313488 AA970507 BF002716 NM_182703 
AI819323 AA868141 BC047607 BG705884 BQ313972 AA723904 BX113743 BM920115 
AW303437 BQ010852 AL120630 CK005777 R78829 AI393687 AW074253 AA962445 

GeneLoc Exon Structure

Selected 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

(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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ANKDD1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TACAGCACAA
ANKDD1A Expression
About this image


ANKDD1A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Primitive Streak (Early Embryonic Tissues)
         Primitive streak-like cells
 
 Endoderm (Gastrulation Derivatives)
         Definitive endoderm-like cells
 
 Spleen (Hematopoietic System)
ANKDD1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ANKDD1A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.207157
    Custom PCR Arrays for ANKDD1A
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QuantiFast Probe-based Assays in human, mouse, rat ANKDD1A
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKDD1A

(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 animals.

Orthologs for ANKDD1A gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ankdd1a5
A730067D02Rik1
ankyrin repeat and death domain containing 1A5
RIKEN cDNA A730067D02 gene1
84.44(n)1
85.12(a)1
  9 (35.35 cM)5
3309631  XM_006511594.11  XP_006511657.11 
chicken
(Gallus gallus)
Aves ANKDD1A1 ankyrin repeat and death domain containing 1A 67.08(n)
64.88(a)
  415525  XM_004943881.1  XP_004943938.1 
lizard
(Anolis carolinensis)
Reptilia ANKDD1A6
ankyrin repeat and death domain containing 1A
61(a)
1 ↔ 1
GL343392.1(365990-379502)
African clawed frog
(Xenopus laevis)
Amphibia CD301326.12   -- 71.06(n)    CD301326.1 
zebrafish
(Danio rerio)
Actinopterygii ankdd1a1 ankyrin repeat and death domain containing 1A 63.04(n)
59.06(a)
  569271  NM_001099248.1  NP_001092718.1 
worm
(Caenorhabditis elegans)
Secernentea mib-16
ikb-16
Protein IKB-1 (ikb-1) mRNA, complete cds
15(a)
15(a)
many ↔ many
many ↔ many
III(11286335-11290699) WBGene00012933
I(9685482-9688648) WBGene00002069


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

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

ANKDD1A for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for ANKDD1A
PGOHUM00000251381


(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 ANKDD1A (see all 1480)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs345420971,2
C--42049436(+) GCGGG-/AT/TA 
        
AGCCA
1 -- int10--------
rs676203581,2
C--45285223(-) ATGGC-/TATCCCG 1 -- int12Minor allele frequency- TA:0.25NA 4
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,F--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--------

HapMap Linkage Disequilibrium report for ANKDD1A (65204101 - 65251042 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for ANKDD1A:    About this table    
Variant IDTypeSubtypePubMed ID
esv2659431CNV Deletion23128226
nsv833041CNV Loss17160897
dgv31n68CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ANKDD1A
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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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  --

(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 ANKDD1A gene integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1 Gieger C....Soranzo N. (Nature 2011)
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 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. (Genome Res. 2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(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: 348094 HGNC: 28002 AceView: LOC348094 Ensembl:ENSG00000166839 euGenes: HUgn348094
ECgene: ANKDD1A H-InvDB: ANKDD1A

(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 ANKDD1A 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 ANKDD1A gene:
Search GeneIP for patents involving ANKDD1A

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(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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 Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ANKDD1A  
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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