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ACIN1 Gene

protein-coding   GIFtS: 66
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)
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Aliases
Apoptotic Chromatin Condensation Inducer 11 2     KIAA06703 5
ACINUS1 2 3     ACN2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include enzyme binding and nucleotide binding.

UniProtKB/Swiss-Prot: ACINU_HUMAN, Q9UKV3
Function: Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at
splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral
nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or
during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent
manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate
specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The
ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis
and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and
probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the
activity is different from the established EJC assembly and function. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for ACIN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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). Component of the heterotrimeric ASAP
(apoptosis- and splicing-associated protein) complexes consisting of RNPS1, SAP18 and different isoforms of
ACIN1; the association of SAP18 seems to require a preformed RNPS1:ACIN1 complex. Interacts with API5. Interacts
with SRPK2 in a phosphorylation-dependent manner
Caution: Structural and functional studies of the ASAP complex have been conducted with a chimeric complex
involving a conserved fragment of Drosophila melanogaster Acinus/hkl (PubMed:22388736)
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: 

  • Phosphorylation on Ser-1180 by SRPK2 up-regulates its stimulatory effect on cyclin A11
  • Undergoes proteolytic cleavage; the processed form is active, contrary to the uncleaved form1
  • Ubiquitination2 at Lys5, Lys103, Lys143, Lys823, Lys831, Lys861
  • Modification sites at PhosphoSitePlus

  • See ACIN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ACIN1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ACIN1

    ACIN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACIN1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for ACIN1  (acinus)
    OriGene Antibodies for ACIN1
    OriGene Custom Antibody Services for ACIN1
    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

    ACIN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ACIN1
    Browse Enzo Life Sciences for kits & assays
    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)
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    3 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR003034 SAP_dom
     IPR000504 RRM_dom

    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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACINU_HUMAN, Q9UKV3
    Function: Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at
    splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral
    nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or
    during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence-independent
    manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate
    specific excision of introns in specific transcription subsets; ACIN1 confers RNA-binding to the complex. The
    ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis
    and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and
    probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the
    activity is different from the established EJC assembly and function. Induces apoptotic chromatin condensation
    after activation by CASP3. Regulates cyclin A1, but not cyclin A2, expression in leukemia cells

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding NAS10490026
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI18951082
    GO:0016887ATPase activity 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: Let us create your new Knockout/Knockin mouse model for ACIN1
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       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
    Products:
        
    miRTarBase miRNAs that target ACIN1:
    hsa-mir-1226-3p (MIRT036443), hsa-mir-106b-5p (MIRT044279), hsa-mir-324-5p (MIRT043129), hsa-mir-340-5p (MIRT019549), hsa-mir-221-3p (MIRT046954), hsa-mir-93-3p (MIRT038741), hsa-mir-93-5p (MIRT027955), hsa-mir-18a-5p (MIRT031335)

    Block miRNA regulation of human, mouse, rat ACIN1 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACIN1
    Predesigned siRNA for gene silencing in human, mouse, rat ACIN1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ACIN1 (see all 29)
    OriGene ORF clones in mouse, rat for ACIN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ACIN1 (NM_001164814)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACIN1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ACIN1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACIN1


    (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 UniProtKB/Swiss-Prot
    ACINU_HUMAN, Q9UKV3: Nucleus. Nucleus speckle. Nucleus, nucleoplasm. Note=Phosphorylation on Ser-1180 by SRPK2
    redistributes it from the nuclear speckles to the nucleoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    ACIN1 for ontologies           About GeneDecksing


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

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Apoptotic execution phase0.74
    2CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    3Spliceosome
    Spliceosome
    4RNA transport
    RNA transport
    5mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for ACIN1
        Apoptotic cleavage of cellular proteins


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


    ACIN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACIN1
    Interactions:

        Search GeneGlobe Interaction Network for ACIN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for ACIN1 (Q9UKV31, 2, 3 ENSP000002627104) via UniProtKB, MINT, STRING, and/or I2D (see all 615)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    API5Q9BZZ51, 2, 3, ENSP000003993414EBI-6976596,EBI-1048422 MINT-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): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process NAS10490026
    GO:0006397mRNA processing IEA--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0008380RNA splicing IEA--

    ACIN1 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)
    About This Section

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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 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,
    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 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
    Selected 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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    Selected qRT-PCR 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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    Clone
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    OriGene ORF clones in mouse, rat for ACIN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ACIN1 (NM_001164814)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACIN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACIN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ACIN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACIN1
      QuantiTect SYBR Green Assays in human, mouse, rat ACIN1
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 360):

    BQ646643 BQ424346 BU580898 AA341173 AI049963 AA283206 F28348 AA406519 
    BM979980 AA443975 BX247975 BF197086 AF124726 AA683324 H80276 AW771830 
    BQ951195 W56290 AA047063 AF124727 BX408228 BU727824 BQ652996 AL041390 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    ACIN1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ACIN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACIN1 Protein Expression

    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

        Custom PCR Arrays for ACIN1
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    In Situ
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    (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 ACIN1 gene from Selected species (see all 14)    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 86.65(n)1
    86.27(a)1
      14 (27.87 cM)5
    562151  NM_023190.31  NP_075679.21 
     546421615 
    lizard
    (Anolis carolinensis)
    Reptilia ACIN16
    apoptotic chromatin condensation inducer 1
    50(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 Acn6
    Acinus
    30(a)
    1 ↔ 1
    2L(19045361-19048633)
    worm
    (Caenorhabditis elegans)
    Secernentea acin-16
    Protein ACIN-1 (acin-1) mRNA, complete cds
    29(a)
    1 ↔ 1
    I(4270646-4273332) WBGene00016601


    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)
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    Paralogs for ACIN1 gene
    1 SIMAP similar gene for ACIN1 using alignment to 5 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), 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 ACIN1 (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--------
    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--------
    rs1837789841,2
    --4524862(+) AATAAA/GAAAAA 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604562    OMIM disorders: --

    Selected diseases for ACIN1 (see all 21):    
    About MalaCards
    breast adenomyoepithelioma    sialolithiasis    tick paralysis    acne
    congenital diaphragmatic hernia    gastric adenocarcinoma    cholestasis    colon adenocarcinoma
    lung adenocarcinoma    adenocarcinoma    breast and colorectal cancer    tonsillitis
    hiv-1    prostatitis    prostate cancer    colorectal cancer
    thyroiditis    leukemia    malaria    cerebritis

    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)
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    PubMed articles for ACIN1 gene, integrated from 10 sources (see all 81):
    (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. (Nature 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. (DNA Res. 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. (EMBO J. 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. (RNA 2005)
    5. ASAP, a novel protein complex involved in RNA processing and apoptosis. (PubMed id 12665594)1, 2, 9 Schwerk C....Reinberg D. (Mol. Cell. Biol. 2003)
    6. The structure of the ASAP core complex reveals the existence of a Pinin-containing PSAP complex. (PubMed id 22388736)1, 2 Murachelli A.G....Conti E. (amp 2012)
    7. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    8. 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. (Proteomics 2007)
    9. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

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

    (According to HUGE)
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    HUGE: KIAA0670

    (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 ACIN1 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 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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