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

AKNAD1 Gene

protein-coding   GIFtS: 39
GCID: GC01M109359

AKNA domain containing 1

(Previous name: chromosome 1 open reading frame 62 )
(Previous symbol: C1orf62)
  Search for AKNAD1
in our new
 Human Malady Compendium 
Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
AKNA Domain Containing 11 2
C1orf621 2 3
MGC269891
Chromosome 1 Open Reading Frame 621
Protein AKNAD12

External Ids:    HGNC: 283981   Entrez Gene: 2542682   Ensembl: ENSG000001626417   UniProtKB: Q5T1N13   

Export aliases for AKNAD1 gene to outside databases

Previous GC identifers: GC01M109161 GC01M107251


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

Entrez Gene summary for AKNAD1:
This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, May 2012)




(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AKNAD1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for AKNAD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKNAD1


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

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13.3

AKNAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKNAD1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M109359:  view genomic region     (about GC identifiers)

Start:
109,358,520 bp from pter      End:
109,506,106 bp from pter
Size:
147,587 bases      Orientation:
minus strand

(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: AKND1_HUMAN, Q5T1N1 (See protein sequence)
Recommended Name: Protein AKNAD1  
Size: 836 amino acids; 92864 Da
Secondary accessions: B9EK62 Q5T1N0 Q8N990 Q8NCN9
Alternative splicing: 4 isoforms:  Q5T1N1-1   Q5T1N1-2   Q5T1N1-3   Q5T1N1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKNAD1: NX_Q5T1N1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T1N1

  • AKNAD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689976.2  
    ENSEMBL proteins: 
     ENSP00000359018   ENSP00000436835   ENSP00000359011   ENSP00000359012   ENSP00000433889  
     ENSP00000432262   ENSP00000349968  

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    Uscn Proteins for AKNAD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--


    AKNAD1 for ontologies           About GeneDecksing



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

    AKNAD1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR022150 TF_AT-hook

    Graphical View of Domain Structure for InterPro Entry Q5T1N1

    ProtoNet protein and cluster: Q5T1N1

    UniProtKB/Swiss-Prot: AKND1_HUMAN, Q5T1N1
    Similarity: Belongs to the AKNA family


    (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
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    Inhib. RNA
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    (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 AKNAD1

    (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 AKNAD1
    Search CenterWatch for drugs/clinical trials and news about AKNAD1 / AKND1 

    (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,
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    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 AKNAD1 gene: 
    NM_152763.4  

    Unigene Cluster for AKNAD1:

    AKNA domain containing 1
    Hs.729441  [show with all ESTs]
    Unigene Representative Sequence: AL832216
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466413 ENST00000370001(uc001dwa.3) ENST00000474186(uc001dwb.3)
    ENST00000477908 ENST00000369994 ENST00000369995 ENST00000461774 ENST00000472781
    ENST00000357393(uc010ovb.2)

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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKNAD1
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    Additional cDNA sequence: 

    AK095517.1 AK313772.1 AL832216.1 BC030647.2 BC150642.1 NR_049760.1 

    7 DOTS entries:

    DT.91827827  DT.412167  DT.99999462  DT.99936986  DT.40214060  DT.86850931  DT.75160811 

    17 AceView cDNA sequences:

    BX117233 AK095517 AW263562 AI199179 NM_152763 BX119529 BC030647 BG211366 
    AL832216 AW183257 BI459450 BX099864 AI651223 AA527539 BG211908 AI825653 
    BG722609 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AKNAD1 (see all 6)    About this scheme

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

    ExUns: 17b ^ 18
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for AKNAD1

    (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

    AKNAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See AKNAD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKNAD1

    SOURCE GeneReport for Unigene cluster: Hs.729441
        SABiosciences Custom PCR Arrays for AKNAD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKNAD1

    (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 chordates.

    Orthologs for AKNAD1 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aknad11 , 5 AKNA domain containing 11, 5 70.64(n)1
    54.93(a)1
      3 (47.64 cM)5
    3297381  NM_177859.31  NP_808527.21 
     1087396585 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    57(a)
    31(a)
    many → 1
    many → 1
    GL343211.1(2156464-2158073)
    GL343211.1(2151839-2156106)


    ENSEMBL Gene Tree for AKNAD1 (if available)
    TreeFam Gene Tree for AKNAD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/946 NCBI SNPs in AKNAD1 are shown (see all 946    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006802391,2
    C--107251590(-) CAAAAA/GANNNN 2 -- nc-transcript-variantut310--------
    rs1118980011,2
    F--107252790(+) ACCGCC/AGCTGG 2 -- int12Minor allele frequency- A:0.50CSA 4
    rs763673861,2
    --107252842(+) CTCCCA/GGAATT 2 -- int10--------
    rs16149121,2
    H--107253451(+) TCTCTC/ATCAGG 2 -- int15Minor allele frequency- A:0.00MN NS EA 604
    rs2020764531,2
    C--107254753(+) AAGAAA/CTTTTT 2 -- int10--------
    rs115889351,2
    H--107255259(+) ggcggA/Gaggat 2 -- int10--------
    rs96630651,2
    C,F,A--107255373(+) acagcC/Aaaaaa 2 -- int1 trp35Minor allele frequency- A:0.50NA WA 10
    rs786397171,2
    C,F,--107255461(+) TGTACG/AGTCTG 2 -- int11Minor allele frequency- A:0.03WA 118
    rs120977111,2
    --107256787(+) taatcA/Ccagct 2 -- int10--------
    rs595913011,2
    C--107256918(+) AACAAAA/-CAAAA 2 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for AKNAD1 (109358520 - 109506106 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for AKNAD1
         7 CNVs: 48076 37398 64556 48075 60868 34675 9889

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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.)
    About This Section

    AKNAD1 for disorders           About MalaCards

    AKNAD1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: AKNAD1 (1 document)

    Export disorders for AKNAD1 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)
    About This Section

    PubMed articles for AKNAD1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with AKNAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    8. 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)
    9. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 254268 HGNC: 28398 AceView: MGC26989 Ensembl:ENSG00000162641 euGenes: HUgn254268
    ECgene: AKNAD1 H-InvDB: AKNAD1

    (According to HUGE)
    About This Section
      --

    (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 AKNAD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AKNAD1 gene:
    Search GeneIP for patents involving AKNAD1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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