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    ACIN1 apoptotic chromatin condensation inducer 1 [ Homo sapiens (human) ]

    Gene ID: 22985, updated on 17-Jun-2024

    Summary

    Official Symbol
    ACIN1provided by HGNC
    Official Full Name
    apoptotic chromatin condensation inducer 1provided by HGNC
    Primary source
    HGNC:HGNC:17066
    See related
    Ensembl:ENSG00000100813 MIM:604562; AllianceGenome:HGNC:17066
    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
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 24.7), spleen (RPKM 23.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ACIN1 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23058564..23095614, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17259183..17296258, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23527773..23564823, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene proteasome subunit beta 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23521379-23521879 Neighboring gene cadherin 24 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5601 Neighboring gene collagen alpha-2(I) chain-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:23530845-23532044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23537671-23538195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8161 Neighboring gene uncharacterized LOC124903288 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23547601-23548800 Neighboring gene hESC enhancers GRCh37_chr14:23564101-23564624 and GRCh37_chr14:23564625-23565148 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene Sharpr-MPRA regulatory region 2207 Neighboring gene ciliated left-right organizer metallopeptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23583091-23583809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 Neighboring gene CCAAT enhancer binding protein epsilon

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, apoptotic chromatin condensation inducer 1 (ACIN1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with ACIN1 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0670, DKFZp667N107

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP hydrolysis activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables enzyme binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables nucleic acid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic chromosome condensation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in erythrocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of monocyte differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ASAP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of ASAP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    apoptotic chromatin condensation inducer in the nucleus
    Names
    functional spliceosome-associated protein 152

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_030461.2 RefSeqGene

      Range
      5478..42050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164814.2NP_001158286.2  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)
      AL117258, AL132780
      Consensus CDS
      CCDS55905.1
      Related
      ENSP00000451328.1, ENST00000555053.5
    2. NM_001164815.2NP_001158287.2  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)
      AL117258, AL132780
      Consensus CDS
      CCDS53889.1
      UniProtKB/TrEMBL
      E7EQT4
      Related
      ENSP00000405677.1, ENST00000457657.5
    3. NM_001164816.2NP_001158288.1  apoptotic chromatin condensation inducer in the nucleus isoform 4

      See identical proteins and their annotated locations for NP_001158288.1

      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
      ENSP00000345541.6, ENST00000338631.10
      Conserved Domains (2) summary
      pfam16294
      Location:479509
      RSB_motif; RNSP1-SAP18 binding (RSB) motif
      cd12432
      Location:284370
      RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    4. NM_001164817.2NP_001158289.1  apoptotic chromatin condensation inducer in the nucleus isoform 5

      See identical proteins and their annotated locations for NP_001158289.1

      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/TrEMBL
      G3V3B0
      Related
      ENSP00000350073.2, ENST00000357481.6
      Conserved Domains (2) summary
      pfam16294
      Location:448478
      RSB_motif; RNSP1-SAP18 binding (RSB) motif
      cd12432
      Location:253339
      RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    5. NM_001386863.1NP_001373792.1  apoptotic chromatin condensation inducer in the nucleus isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses a downstream transcription start site and a downstream in-frame translation start site, compared to variant 1. The encoded isoform (6) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL117258, AL132780
      Consensus CDS
      CCDS91850.1
      UniProtKB/TrEMBL
      S4R3H4
      Related
      ENSP00000474349.1, ENST00000605057.6
      Conserved Domains (4) summary
      smart00513
      Location:1448
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      PTZ00121
      Location:152355
      PTZ00121; MAEBL; Provisional
      pfam16294
      Location:11481178
      RSB_motif; RNSP1-SAP18 binding (RSB) motif
      cd12432
      Location:9531039
      RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    6. NM_014977.4NP_055792.2  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)
      AL117258, AL132780
      Consensus CDS
      CCDS9587.1
      UniProtKB/Swiss-Prot
      B2RTT4, D3DS45, O75158, Q9UG91, Q9UKV1, Q9UKV2, Q9UKV3
      Related
      ENSP00000262710.1, ENST00000262710.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23058564..23095614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431115.1XP_047287071.1  apoptotic chromatin condensation inducer in the nucleus isoform X5

    2. XM_047431113.1XP_047287069.1  apoptotic chromatin condensation inducer in the nucleus isoform X3

    3. XM_047431114.1XP_047287070.1  apoptotic chromatin condensation inducer in the nucleus isoform X4

    4. XM_005267415.5XP_005267472.1  apoptotic chromatin condensation inducer in the nucleus isoform X1

      Conserved Domains (3) summary
      smart00513
      Location:72106
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      cd12432
      Location:10101096
      RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
      pfam16294
      Location:11641235
      RSB_motif; RNSP1-SAP18 binding (RSB) motif
    5. XM_005267416.5XP_005267473.1  apoptotic chromatin condensation inducer in the nucleus isoform X2

      Conserved Domains (3) summary
      smart00513
      Location:72106
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      cd12432
      Location:9991085
      RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
      pfam16294
      Location:11531224
      RSB_motif; RNSP1-SAP18 binding (RSB) motif
    6. XM_047431116.1XP_047287072.1  apoptotic chromatin condensation inducer in the nucleus isoform X6

    7. XM_005267418.2XP_005267475.1  apoptotic chromatin condensation inducer in the nucleus isoform X14

      See identical proteins and their annotated locations for XP_005267475.1

      UniProtKB/TrEMBL
      G3V3B0
      Related
      ENSP00000380502.3, ENST00000397341.7
      Conserved Domains (2) summary
      pfam16294
      Location:448478
      RSB_motif; RNSP1-SAP18 binding (RSB) motif
      cd12432
      Location:253339
      RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    8. XM_047431117.1XP_047287073.1  apoptotic chromatin condensation inducer in the nucleus isoform X9

    9. XM_047431120.1XP_047287076.1  apoptotic chromatin condensation inducer in the nucleus isoform X13

    10. XM_024449512.2XP_024305280.1  apoptotic chromatin condensation inducer in the nucleus isoform X12

      Conserved Domains (2) summary
      smart00513
      Location:72106
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      cl26511
      Location:141373
      Neuromodulin_N; Gap junction protein N-terminal region
    11. XM_047431119.1XP_047287075.1  apoptotic chromatin condensation inducer in the nucleus isoform X11

    12. XM_011536570.4XP_011534872.1  apoptotic chromatin condensation inducer in the nucleus isoform X7

      Conserved Domains (1) summary
      smart00513
      Location:72106
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    13. XM_047431118.1XP_047287074.1  apoptotic chromatin condensation inducer in the nucleus isoform X10

    14. XM_006720081.5XP_006720144.1  apoptotic chromatin condensation inducer in the nucleus isoform X8

      Conserved Domains (1) summary
      smart00513
      Location:72106
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17259183..17296258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375614.1XP_054231589.1  apoptotic chromatin condensation inducer in the nucleus isoform X5

    2. XM_054375612.1XP_054231587.1  apoptotic chromatin condensation inducer in the nucleus isoform X3

    3. XM_054375613.1XP_054231588.1  apoptotic chromatin condensation inducer in the nucleus isoform X4

    4. XM_054375610.1XP_054231585.1  apoptotic chromatin condensation inducer in the nucleus isoform X1

    5. XM_054375611.1XP_054231586.1  apoptotic chromatin condensation inducer in the nucleus isoform X2

    6. XM_054375622.1XP_054231597.1  apoptotic chromatin condensation inducer in the nucleus isoform X14

      UniProtKB/TrEMBL
      G3V3B0
    7. XM_054375617.1XP_054231592.1  apoptotic chromatin condensation inducer in the nucleus isoform X9

    8. XM_054375621.1XP_054231596.1  apoptotic chromatin condensation inducer in the nucleus isoform X13

    9. XM_054375620.1XP_054231595.1  apoptotic chromatin condensation inducer in the nucleus isoform X12

    10. XM_054375619.1XP_054231594.1  apoptotic chromatin condensation inducer in the nucleus isoform X11

    11. XM_054375615.1XP_054231590.1  apoptotic chromatin condensation inducer in the nucleus isoform X7

    12. XM_054375618.1XP_054231593.1  apoptotic chromatin condensation inducer in the nucleus isoform X10

    13. XM_054375616.1XP_054231591.1  apoptotic chromatin condensation inducer in the nucleus isoform X8