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    ACIN1 apoptotic chromatin condensation inducer 1 [ Homo sapiens ]

    Gene ID: 22985, updated on 19-May-2012
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    Summary

    Official Symbol
    ACIN1provided by HGNC
    Official Full Name
    apoptotic chromatin condensation inducer 1provided by HGNC
    Primary source
    HGNC:17066
    See related
    Ensembl:ENSG00000100813; HPRD:05191; MIM:604562; Vega:OTTHUMG00000028716
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACN; ACINUS; fSAP152; KIAA0670; DKFZp667N107
    Summary
    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]
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    Genomic context

    Location :
    14q11.2
    Sequence :
    Chromosome: 14; NC_000014.8 (23527773..23564823, complement)
    See ACIN1 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene proteasome (prosome, macropain) subunit, beta type, 11 Neighboring gene cadherin 24, type 2 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene uncharacterized LOC100128908 Neighboring gene CCAAT/enhancer binding protein (C/EBP), epsilon

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. Comparative proteomic analysis identifies a role for SUMO in protein quality control. Tatham MH, et al. Sci Signal, 2011 Jun 21. PMID 21693764.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603.
    5. Global analysis of lysine ubiquitination by ubiquitin remnant immunoaffinity profiling. Xu G, et al. Nat Biotechnol, 2010 Aug. PMID 20639865.

    See all (32) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    2. A critical role for AKT activation in protecting cells from ionizing radiation-induced apoptosis and the regulation of acinus gene expression is reported.
      Title: A critical role for AKT activation in protecting cells from ionizing radiation-induced apoptosis and the regulation of acinus gene expression.
    3. Study shows that transcription corepressor CtBP2 directly binds acinus, which is regulated by nerve growth factor (NGF), inhibiting its stimulatory effect on cyclin A1, but not cyclin A2, expression in leukemia.
      Title: NGF inhibits human leukemia proliferation by downregulating cyclin A1 expression through promoting acinus/CtBP2 association.
    4. identify Acinus-S' as a novel RAR-interacting protein[Acinus-S']
      Title: Acinus-S' represses retinoic acid receptor (RAR)-regulated gene expression through interaction with the B domains of RARs.
    5. The authors report here that AAC-11, a survival protein whose expression prevents apoptosis that occurs on deprivation of growth factors, physiologically binds to Acinus and prevents Acinus-mediated DNA fragmentation.
      Title: The antiapoptotic protein AAC-11 interacts with and regulates Acinus-mediated DNA fragmentation.
    6. Akt phosphorylation of acinus on serine 422 and 573 results in its resistance to caspase cleavage in the nucleus and the inhibition of acinus-dependent chromatin condensation.
      Title: Akt phosphorylates acinus and inhibits its proteolytic cleavage, preventing chromatin condensation.
    7. We found hypermethylation of the ACIN1 gene in early stage lung adenocarcinoma. The role of methylation status in the development and malignant transformation of lung adenocarcinoma requires clarification.
      Title: The ACIN1 gene is hypermethylated in early stage lung adenocarcinoma.
    8. Acinus is not involved in DNA condensation but rather has a role in internucleosomal DNA cleavage during programmed cell death
      Title: Loss of Acinus inhibits oligonucleosomal DNA fragmentation but not chromatin condensation during apoptosis.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UKV3 Q9NUQ8 ABCF3    HPRD  PubMed  
    Q9UKV3 P42330 AKR1C3    HPRD  PubMed  
    Q9UKV3 Q9BSF8 BTBD10    HPRD  PubMed  
    Q9UKV3 P42574 CASP3    HPRD  PubMed  
    Q9UKV3 Q53HC5 KLHL26    HPRD  PubMed  
    Q9UKV3 P68402 PAFAH1B2    HPRD  PubMed  
    Q9UKV3 P61981 YWHAG    HPRD  PubMed  
    BioGRID:116634 BioGRID:120605 ABCF3    BioGRID  PubMed Two-hybrid 
    BioGRID:116634 BioGRID:114342 BANF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116634 BioGRID:111086 PAFAH1B2    BioGRID  PubMed Two-hybrid 
    BioGRID:116634 BioGRID:114952 RBM39    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116634 BioGRID:115573 SAP18    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:116634 BioGRID:115544 SRRM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116634 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:116634 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116634 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116634 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
      Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
    • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
      Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
    • Exon junction complex (EJC), organism-specific biosystem (from KEGG)
      Exon junction complex (EJC), organism-specific biosystemStructural complex; Genetic information processing; RNA processing
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
      mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
    • mRNA surveillance pathway, conserved biosystem (from KEGG)
      mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enzyme binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    nucleic acid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    ATP catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    apoptotic chromosome condensation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    cellular component disassembly involved in apoptosis TAS
    Traceable Author Statement
    more info
    		  
    erythrocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    positive regulation of monocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    apoptotic chromatin condensation inducer in the nucleus
    Names
    apoptotic chromatin condensation inducer in the nucleus
    functional spliceosome-associated protein 152
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030461.1 RefSeqGene

      Range
      5001..42051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164814.1 → NP_001158286.1  apoptotic chromatin condensation inducer in the nucleus isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AF124726, AF124728, AL117258, BC140805
      Consensus CDS
      CCDS55905.1
      UniProtKB/Swiss-Prot
      Q9UKV3
      Related
      ENSP00000451328, OTTHUMP00000246164, ENST00000555053, OTTHUMT00000413653
      Conserved Domains (2) summary
      cl02586
      Location:1015 – 1074
      Blast Score: 101
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02640
      Location:72 – 106
      Blast Score: 106
      SAP; SAP domain

    2. NM_001164815.1 → NP_001158287.1  apoptotic chromatin condensation inducer in the nucleus isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AF124726, AF124728, AK299034, AL117258, BC140805
      Consensus CDS
      CCDS53889.1
      UniProtKB/TrEMBL
      B4DQZ7
      UniProtKB/Swiss-Prot
      Q9UKV3
      Related
      ENSP00000405677, ENST00000457657
      Conserved Domains (2) summary
      cl02586
      Location:988 – 1047
      Blast Score: 101
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02640
      Location:72 – 106
      Blast Score: 106
      SAP; SAP domain

    3. NM_001164816.1 → NP_001158288.1  apoptotic chromatin condensation inducer in the nucleus isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4), also known as ACINUS-S', has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF124728, AL132780
      Consensus CDS
      CCDS53888.1
      UniProtKB/Swiss-Prot
      Q9UKV3
      Related
      ENSP00000345541, OTTHUMP00000164549, ENST00000338631, OTTHUMT00000071709
      Conserved Domains (1) summary
      cl02586
      Location:301 – 360
      Blast Score: 100
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

    4. NM_001164817.1 → NP_001158289.1  apoptotic chromatin condensation inducer in the nucleus isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5), also known as ACINUS-S, has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF124728, AL132780, CX786860
      Consensus CDS
      CCDS53887.1
      UniProtKB/Swiss-Prot
      Q9UKV3
      Related
      ENSP00000350073, OTTHUMP00000164550, ENST00000357481, OTTHUMT00000071710
      Conserved Domains (1) summary
      cl02586
      Location:270 – 329
      Blast Score: 99
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...

    5. NM_014977.3 → NP_055792.1  apoptotic chromatin condensation inducer in the nucleus isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as ACINUS-L.
      Source sequence(s)
      AF124726, AL117258, BC032770
      Consensus CDS
      CCDS9587.1
      UniProtKB/Swiss-Prot
      Q9UKV3
      Related
      ENSP00000262710, OTTHUMP00000164548, ENST00000262710, OTTHUMT00000071707
      Conserved Domains (2) summary
      cl02586
      Location:1028 – 1087
      Blast Score: 101
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      cl02640
      Location:72 – 106
      Blast Score: 106
      SAP; SAP domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      23527773..23564823, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      3644728..3681739, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL117258.4 (149467..156930) None
    genomic AL132780.5 (162362..191945) None
    genomic CH471078.2 EAW66186.1
      EAW66187.1
      EAW66188.1
    mRNA AB014570.2 BAA31645.2
    mRNA AF124726.1 AAD56724.1
    mRNA AF124727.1 AAD56725.1
    mRNA AF124728.1 AAD56726.1
    mRNA AK299034.1 BAG61109.1
    mRNA AL050382.1 CAB43681.2
    mRNA AL833228.1 CAH10608.1
    mRNA BC032770.1 None
    mRNA BC140805.1 AAI40806.1
    mRNA BX247975.1 CAD62309.1
    mRNA CX786860.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69YJ6 GenPept UniProtKB/TrEMBL:Q69YJ6
    Q9UKV3.2 GenPept UniProtKB/Swiss-Prot:Q9UKV3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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