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AAED1 Gene

protein-coding   GIFtS: 36
GCID: GC09M099404

AhpC/TSA Antioxidant Enzyme Domain Containing 1

(Previous name: chromosome 9 open reading frame 21)
(Previous symbol: C9orf21)
  Search for AAED1
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
AhpC/TSA Antioxidant Enzyme Domain Containing 11 2
C9orf211 2 3
AhpC/TSA Antioxidant Enzyme Domain-Containing Protein 12 3
Chromosome 9 Open Reading Frame 211
Thioredoxin-Like Protein AAED12
UPF0308 Protein C9orf212

External Ids:    HGNC: 168811   Entrez Gene: 1958272   Ensembl: ENSG000001581227   UniProtKB: Q7RTV53   

Export aliases for AAED1 gene to outside databases


(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 AAED1 Gene:
AAED1 (AhpC/TSA antioxidant enzyme 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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for AAED1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AAED1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AAED1


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

Entrez Gene cytogenetic band: 9q22.32   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22.32

AAED1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AAED1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M099404:  view genomic region     (about GC identifiers)

Start:
99,401,859 bp from pter      End:
99,417,599 bp from pter
Size:
15,741 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AAED1_HUMAN, Q7RTV5 (See protein sequence)
Recommended Name: Thioredoxin-like protein AAED1  
Size: 226 amino acids; 24857 Da
Secondary accessions: B2RMW4 Q5JU02

Explore the universe of human proteins at neXtProt for AAED1: NX_Q7RTV5

Explore proteomics data for AAED1 at MOPED


See AAED1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_714542.1  
ENSEMBL proteins: 
 ENSP00000412378   ENSP00000364382   ENSP00000398933  

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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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1 InterPro protein domain:
 IPR012336 Thioredoxin-like_fold

Graphical View of Domain Structure for InterPro Entry Q7RTV5

ProtoNet protein and cluster: Q7RTV5

UniProtKB/Swiss-Prot: AAED1_HUMAN, Q7RTV5
Similarity: Belongs to the AAED1 family


AAED1 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): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016209antioxidant activity ----
GO:0016491oxidoreductase activity ----
     
AAED1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for AAED1:
 G0/1 arrest  Increased G1 DNA content 

Animal Models:
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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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(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 AAED1
Interactions:

    Search GeneGlobe Interaction Network for AAED1

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

1 Interacting protein for AAED1 (ENSP000003643824) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ELAVL1ENSP000003852694STRING: ENSP00000385269
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0055114oxidation-reduction process ----

AAED1 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 AAED1



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for AAED1 gene: 
NM_153698.1  

Unigene Cluster for AAED1:

AhpC/TSA antioxidant enzyme domain containing 1
Hs.44640  [show with all ESTs]
Unigene Representative Sequence: NM_153698
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000411939 ENST00000375234(uc004awm.3) ENST00000446045 ENST00000464512

miRNA
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Additional mRNA sequence: 

BC136501.1 BC136503.1 

6 DOTS entries:

DT.413946  DT.100810778  DT.100810777  DT.100018439  DT.91744085  DT.91744087 

Selected AceView cDNA sequences (see all 83):

AW779132 AI568733 BG219878 BM843088 BK000255 AW207511 CA413692 CA412848 
AW207287 AA974101 AI914117 AI394211 AI140317 AI251742 BE467790 AA253265 
BG201014 AW590923 BM310469 AW517509 CA419879 CA438799 BM843533 BE218052 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for AAED1    About this scheme

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


ECgene alternative splicing isoforms for AAED1

(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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AAED1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGGGAAGCA
AAED1 Expression
About this image

AAED1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AAED1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.44640
    Custom PCR Arrays for AAED1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAED1

(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 eukaryotes.

Orthologs for AAED1 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Aaed11 , 5 RIKEN cDNA 1110018J18 gene5
AhpC/TSA antioxidant enzyme domain containing 11
86.79(n)1
90.09(a)1
  13 (33.26 cM)5
661291  NM_025370.21  NP_079646.11 
 642918365 
chicken
(Gallus gallus)
Aves C9ORF211 chromosome Z open reading frame, human C9orf21 73.05(n)
75(a)
  427472  XM_003643010.2  XP_003643058.1 
lizard
(Anolis carolinensis)
Reptilia AAED16
AhpC/TSA antioxidant enzyme domain containing 1
63(a)
1 ↔ 1
2(39875707-39885559)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.46552 Transcribed sequence with weak similarity to protein more 75.69(n)    CF223750.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.167122 Transcribed sequence with weak similarity to protein more 77.08(n)    BI980704.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G372401 AT2G37240 45.34(n)
32.26(a)
  818301  NM_129280.2  NP_030274.1 
rice
(Oryza sativa)
Liliopsida Os03g02846001 Os03g0284600 42.56(n)
31.28(a)
  4332468  NM_001056298.1  NP_001049763.1 


ENSEMBL Gene Tree for AAED1 (if available)
TreeFam Gene Tree for AAED1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for AAED1 gene
1 SIMAP similar gene for AAED1 using alignment to 3 protein entries:     AAED1_HUMAN (see all proteins):
C9orf21

AAED1 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for AAED1
PGOHUM00000241356


(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 AAED1 (see all 367)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1932491501,2
--99403046(+) GAGGCA/GGAACT 1 -- ds50010--------
rs1857124651,2
--99403146(+) AGTTCC/TCTTTC 1 -- ds50010--------
rs70460551,2
C,F,A,H--99403182(+) AATACA/GTATCT 1 -- ds5001 ese318Minor allele frequency- G:0.25NS EA NA WA CSA 1873
rs1892754131,2
--99403249(+) TGAAAC/TGGATA 1 -- ds50010--------
rs1809607361,2
--99403274(+) TGAGAA/GGGTGC 1 -- ds50010--------
rs1381067291,2
C--99403295(+) GGCTAC/TATGTG 1 -- ds50010--------
rs1167361471,2
C,F--99403396(+) TTGTTA/GTGTGG 1 -- ds50011Minor allele frequency- G:0.03WA 118
rs736569161,2
C,F--99403415(+) TGTCCT/AATAAT 1 -- ds50012Minor allele frequency- A:0.21WA 120
rs11295171,2
C,H--99403554(+) TTTGGT/GGTTTA 1 -- ut312Minor allele frequency- G:0.01NS NA 182
rs1855710171,2
--99403637(+) ATTTGA/TTATTT 1 -- ut310--------

HapMap Linkage Disequilibrium report for AAED1 (99401859 - 99417599 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for AAED1: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AAED1
DNA2.0 Custom Variant and Variant Library Synthesis for AAED1

(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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(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 AAED1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with AAED1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  2. Fugu and human sequence comparison identifies novel human genes and conserved non-coding sequences. (PubMed id 12234665)1, 2 Gilligan P.... Venkatesh B. (Gene 2002)
  3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
  4. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
  5. Reconsidering the evolution of eukaryotic selenoproteins: a novel nonmammalian family with scattered phylogenetic distribution. (PubMed id 14710190)1 Castellano S....GuigA^ R. (EMBO Rep. 2004)
  6. 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)
  7. 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: 195827 HGNC: 16881 AceView: C9orf21 Ensembl:ENSG00000158122 euGenes: HUgn195827
ECgene: AAED1 H-InvDB: AAED1

(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 AAED1 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 AAED1 gene:
Search GeneIP for patents involving AAED1

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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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.



 Browse ESI BIO Cell Lines and PureStem Progenitors for AAED1
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAED1
 SwitchGear 3'UTR luciferase reporter plasmids for AAED1
 Browse SwitchGear Promoter luciferase reporter plasmids for AAED1
 Search ThermoFisher Antibodies for AAED1
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AAED1
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AAED1
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AAED1
 Search LSBio for Antibodies for AAED1
Customized transgenic rodents for:
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 Tissue-specific gene expresssion
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 Browse compounds at ApexBio
       
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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