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

ACIN1 Gene

protein-coding   GIFtS: 65
GCID: GC14M023527

Apoptotic Chromatin Condensation Inducer 1

(Previous name: apoptotic chromatin condensation inducer in the nucleus)
(Previous symbol: ACINUS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Apoptotic Chromatin Condensation Inducer 11 2     ACN2 5
ACINUS1 2 3     KIAA06703 5
Apoptotic Chromatin Condensation Inducer In The Nucleus1 2     fSAP1522
Functional Spliceosome-Associated Protein 1521 2     Acinus3

External Ids:    HGNC: 170661   Entrez Gene: 229852   Ensembl: ENSG000001008137   OMIM: 6045625   UniProtKB: Q9UKV33   

Export aliases for ACIN1 gene to outside databases

Previous GC identifers: GC14M021518 GC14M022597 GC14M003644


(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 ACIN1 Gene:
Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear
fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation
by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a
splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a
consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing.
Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
(provided by RefSeq, Oct 2011)

GeneCards Summary for ACIN1 Gene: 
ACIN1 (apoptotic chromatin condensation inducer 1) is a protein-coding gene. Diseases associated with ACIN1 include breast adenomyoepithelioma, and sialolithiasis, and among its related super-pathways are Apoptotic execution phase and Regulation of Apoptosis. GO annotations related to this gene include enzyme binding and nucleotide binding.

UniProtKB/Swiss-Prot: ACINU_HUMAN, Q9UKV3
Function: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction
on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear
and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
subsequent mRNA metabolism. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin
A1, but not cyclin A2, expression in leukemia cells

Gene Wiki entry for ACIN1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACIN1 gene promoter:
         SRF   AP-1   SRF (504 AA)   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ACIN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACIN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACIN1


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

ACIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACIN1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023527:  view genomic region     (about GC identifiers)

Start:
23,527,773 bp from pter      End:
23,564,823 bp from pter
Size:
37,051 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACINU_HUMAN, Q9UKV3 (See protein sequence)
Recommended Name: Apoptotic chromatin condensation inducer in the nucleus  
Size: 1341 amino acids; 151862 Da
Subunit: Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3,
EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Forms heterodimers with RNPS1. Found in a
heterotrimeric complex with ACIN1, RNPS1 and SAP18. Interacts with API5. Interacts with SRPK2 in a
phosphorylation-dependent manner
Subcellular location: Nucleus. Nucleus speckle. Nucleus, nucleoplasm. Note=Phosphorylation on Ser-1180 by SRPK2
redistributes it from the nuclear speckles to the nucleoplasm
Secondary accessions: B2RTT4 D3DS45 O75158 Q9UG91 Q9UKV1 Q9UKV2
Alternative splicing: 4 isoforms:  Q9UKV3-1   Q9UKV3-2   Q9UKV3-3   Q9UKV3-5   

Explore the universe of human proteins at neXtProt for ACIN1: NX_Q9UKV3

Explore proteomics data for ACIN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-1180 by SRPK2 up-regulates its stimulatory effect on cyclin A1
  • UniProtKB: Undergoes proteolytic cleavage; the processed form is active, contrary to the uncleaved form
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKV3

  • ACIN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACIN1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001158286.1  NP_001158287.1  NP_001158288.1  NP_001158289.1  NP_055792.1  

    ENSEMBL proteins: 
     ENSP00000451138   ENSP00000345541   ENSP00000350073   ENSP00000474349   ENSP00000262710  
     ENSP00000380502   ENSP00000451328   ENSP00000451410   ENSP00000405677  
    Reactome Protein details: Q9UKV3
    Human Recombinant Protein Products for ACIN1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACIN1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016607nuclear speck IEA--

    ACIN1 for ontologies           About GeneDecksing



    ACIN1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACIN1
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    Novus Biologicals ACIN1 Antibodies
    Abcam antibodies for ACIN1
    Cloud-Clone Corp. Antibodies for ACIN1 
    ThermoFisher Antibodies for ACIN1
    LSBio Antibodies in human, mouse, rat for ACIN1 

    Assay Products for ACIN1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ACIN1 
    Cloud-Clone Corp. CLIAs for ACIN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR003034 SAP_dom
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q9UKV3

    ProtoNet protein and cluster: Q9UKV3

    1 Blocks protein domain: IPB003034 DNA-binding SAP

    UniProtKB/Swiss-Prot: ACINU_HUMAN, Q9UKV3
    Similarity: Contains 1 SAP domain


    ACIN1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACINU_HUMAN, Q9UKV3
    Function: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction
    on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear
    and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during
    subsequent mRNA metabolism. Induces apoptotic chromatin condensation after activation by CASP3. Regulates cyclin
    A1, but not cyclin A2, expression in leukemia cells

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding NAS10490026
    GO:0005515protein binding IPI18951082
    GO:0016887ATPase activity NAS10490026
    GO:0019899enzyme binding NAS10490026
         
    ACIN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACIN1:
     Decreased homologous recombina  G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACIN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACIN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACIN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACIN1 

    miRNA
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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate ACIN1 (see all 18):
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    SwitchGear 3'UTR luciferase reporter plasmidACIN1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACIN1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACIN1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Apoptotic execution phase0.73
    2CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.39
    3mRNA Splicing - Major Pathway
    Spliceosome0.31
    4mRNA surveillance pathway
    mRNA surveillance pathway
    5Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ACIN1
        Apoptosis and Autophagy

    3        Reactome Pathways for ACIN1
        Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Apoptosis


    3         Kegg Pathways  (Kegg details for ACIN1):
        RNA transport
    mRNA surveillance pathway
    Spliceosome


    ACIN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/616 Interacting proteins for ACIN1 (Q9UKV31, 2, 3 ENSP000002627104) via UniProtKB, MINT, STRING, and/or I2D (see all 616)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    API5Q9BZZ52, 3, ENSP000003993414MINT-7289283 MINT-7289297 MINT-7945693 MINT-7289318 MINT-7289249 MINT-7289353 I2D: score=1 STRING: ENSP00000399341
    ABCF3Q9NUQ82, 3MINT-7945693 MINT-65164 I2D: score=5 
    AKR1C3P423302, 3, ENSP000003699274MINT-63742 I2D: score=4 STRING: ENSP00000369927
    YWHAGP619812, 3, ENSP000003063304MINT-50826 I2D: score=3 STRING: ENSP00000306330
    YWHABP319462, 3, ENSP000003001614MINT-50956 I2D: score=2 STRING: ENSP00000300161
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process NAS10490026
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0030218erythrocyte differentiation IEP11208865
    GO:0030263apoptotic chromosome condensation IDA10490026

    ACIN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 ACIN1 (ACINU)

    Search CenterWatch for drugs/clinical trials and news about ACIN1 / ACINU

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACIN1 gene (5 alternative transcripts): 
    NM_001164814.1  NM_001164815.1  NM_001164816.1  NM_001164817.1  NM_014977.3  

    Unigene Cluster for ACIN1:

    Apoptotic chromatin condensation inducer 1
    Hs.124490  [show with all ESTs]
    Unigene Representative Sequence: NM_014977
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000557515(uc001wip.4) ENST00000473758(uc001wio.4) ENST00000338631
    ENST00000357481(uc001wiq.4 uc001wir.4) ENST00000605057 ENST00000262710(uc001wit.4 uc010akg.3)
    ENST00000397341 ENST00000555053 ENST00000555478 ENST00000555395 ENST00000554680
    ENST00000553790 ENST00000556052 ENST00000555566 ENST00000557039 ENST00000555807
    ENST00000553721 ENST00000557432
    miRNA
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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate ACIN1 (see all 18):
    hsa-miR-142-5p hsa-miR-3130-5p hsa-miR-509-5p hsa-miR-340 hsa-miR-1205 hsa-miR-10b* hsa-miR-548a-3p hsa-miR-3165
    SwitchGear 3'UTR luciferase reporter plasmidACIN1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACIN1
    Sirion Biotech Customized lentivirus for stable overexpression of ACIN1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACIN1

    Additional mRNA sequence: 

    AB014570.2 AF124726.1 AF124727.1 AF124728.1 AK299034.1 AL050382.1 AL833228.1 BC032770.1 
    BC140805.1 BX247975.1 

    24/37 DOTS entries (see all 37):

    DT.100828728  DT.100703400  DT.100828733  DT.100828730  DT.441873  DT.99952589  DT.91757510  DT.91828716 
    DT.95178277  DT.120788380  DT.91716345  DT.101969332  DT.91939335  DT.100807424  DT.120788322  DT.120788320 
    DT.92068352  DT.100828734  DT.40213840  DT.91640659  DT.95256792  DT.95259771  DT.100029093  DT.100770311 

    24/360 AceView cDNA sequences (see all 360):

    BM985412 BM682134 AA283206 CA421729 AA341173 BQ937799 BM695548 AL050382 
    AA250772 AI580963 BQ424346 AA406519 AI061268 BM903869 NM_014977 AL121100 
    AA514456 BX461507 BM726886 AI888536 AA485368 AA369024 BU580898 AA813331 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ACIN1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for ACIN1

    (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

    ACIN1 expression in normal human tissues (normalized intensities)      ACIN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTAAAGAA
    ACIN1 Expression
    About this image


    ACIN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Breast
             breast ; myoepithelial cells   
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   

    See ACIN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACIN1

    SOURCE GeneReport for Unigene cluster: Hs.124490

    UniProtKB/Swiss-Prot: ACINU_HUMAN, Q9UKV3
    Tissue specificity: Ubiquitous. The Ser-1180 phosphorylated form (by SRPK2) is highly expressed and phosphorylated
    in patients with myeloid hematologic malignancies

        SABiosciences Custom PCR Arrays for ACIN1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACIN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACIN1

    (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 ACIN1 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acin11 , 5 apoptotic chromatin condensation inducer 11, 5 86.95(n)1
    86.87(a)1
      14 (27.87 cM)5
    562151  NM_023190.31  NP_075679.21 
     546421615 
    lizard
    (Anolis carolinensis)
    Reptilia ACIN16
    Uncharacterized protein
    51(a)
    1 ↔ 1
    GL343776.1(88829-121408)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480156322   -- 76.28(n)    48015632 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.125502 Danio rerio, clone IMAGE2601128, mRNA 74.14(n)    BC045312.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Acn1 Acinus 43.01(n)
    34.07(a)
      35173  NM_165273.1  NP_724153.1 
    worm
    (Caenorhabditis elegans)
    Secernentea acin-11 Protein ACIN-1 41.7(n)
    30.43(a)
      172030  NM_058943.4  NP_491344.1 


    ENSEMBL Gene Tree for ACIN1 (if available)
    TreeFam Gene Tree for ACIN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACIN1 gene
    1 SIMAP similar gene for ACIN1 using alignment to 4 protein entries:     ACINU_HUMAN (see all proteins):
    DKFZp667N107

    ACIN1 for paralogs           About GeneDecksing



    (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) 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

    10/1068 SNPs in ACIN1 are shown (see all 1068)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357774
    A colorectal cancer sample4--see VAR_0357772 R Q mis40--------
    VAR_0615474
    ----see VAR_0615472 A P mis40--------
    rs1825455791,2
    --4524367(+) AGGCAC/TGACAT 5 -- ds50010--------
    rs1427791481,2
    --4524407(+) CCCTTC/TTTGGG 5 -- ds50010--------
    rs1470117891,2
    --4524496(+) CAGGTA/GACCAA 5 -- ds50010--------
    rs1403347531,2
    C--4524530(+) GACCA-/GGAACC 5 -- ds50010--------
    rs1865236091,2
    --4524587(+) ACAGGC/TTGCTC 5 -- ds50010--------
    rs37514991,2
    C,H--4524699(+) TAAAGG/CAACAC 5 -- ds50014Minor allele frequency- C:0.00NS EA 418
    rs1914064631,2
    --4524701(+) AAGGAA/GCACAT 5 -- ds50010--------
    rs1397877691,2
    C--4524827(+) TTTTA-/TTTTTT 5 -- ut310--------

    HapMap Linkage Disequilibrium report for ACIN1 (23527773 - 23564823 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACIN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv901491CNV Loss21882294
    nsv518632CNV Loss19592680
    esv259929OTHER Complex20981092

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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.)
    About This Section
    OMIM gene information: 604562    OMIM disorders: --

    15 diseases for ACIN1:    About MalaCards
    breast adenomyoepithelioma    sialolithiasis    tick paralysis    acne
    congenital diaphragmatic hernia    hernia    gastric adenocarcinoma    paralysis
    cholestasis    lung adenocarcinoma    colon adenocarcinoma    adenocarcinoma
    prostate cancer    prostatitis    leukemia

    1 disease from the University of Copenhagen DISEASES database for ACIN1:
    Breast adenomyoepithelioma

    ACIN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACIN1
    Human Genome Epidemiology (HuGE) Navigator: ACIN1 (1 document)

    Export disorders for ACIN1 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 ACIN1 gene, integrated from 9 sources (see all 76):
    (articles sorted by number of sources associating them with ACIN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Acinus is a caspase-3-activated protein required for apoptotic chromatin condensation. (PubMed id 10490026)1, 2, 3, 9 Sahara S.... Tsujimoto Y. (1999)
    2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
    3. The antiapoptotic protein AAC-11 interacts with and regulates Acinus- mediated DNA fragmentation. (PubMed id 19387494)1, 2, 9 Rigou P....Poyet J.-L. (2009)
    4. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PubMed id 16314458)1, 2, 9 Tange T.O.... Moore M.J. (2005)
    5. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    6. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (2007)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. Loss of Acinus inhibits oligonucleosomal DNA fragmentation but not chromatin condensation during apoptosis. (PubMed id 16537548)1, 9 Joselin A.P....Schwerk C. (2006)
    10. A critical role for AKT activation in protecting cell s from ionizing radiation-induced apoptosis and the regulation of acinus gene e xpression. (PubMed id 19615784)1, 9 Park H.S....Nam S.Y. (2009)

    (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: 22985 HGNC: 17066 AceView: ACIN1 Ensembl:ENSG00000100813 euGenes: HUgn22985
    ECgene: ACIN1 Kegg: 22985 H-InvDB: ACIN1

    (According to HUGE)
    About This Section
    HUGE: KIAA0670

    (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 ACIN1 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 ACIN1 gene:
    Search GeneIP for patents involving ACIN1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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