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

Gene ID: 22985, updated on 24-Nov-2020

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
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

Genomic context

See ACIN1 in Genome Data Viewer
Location:
14q11.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23058564..23095614, complement)
105 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 cadherin 24 Neighboring gene collagen alpha-2(I) chain-like Neighboring gene uncharacterized LOC107984665 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene leishmanolysin like peptidase 2 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

Homology

Clone Names

  • KIAA0670, DKFZp667N107

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
RNA binding HDA PubMed 
enzyme binding NAS
Non-traceable Author Statement
more info
PubMed 
nucleic acid binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
apoptotic chromosome condensation IDA
Inferred from Direct Assay
more info
PubMed 
erythrocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
positive regulation of monocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
ASAP complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001164814.1NP_001158286.1  apoptotic chromatin condensation inducer in the nucleus isoform 2

    See identical proteins and their annotated locations for NP_001158286.1

    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
    ENSP00000451328.1, ENST00000555053.5
    Conserved Domains (3) summary
    smart00513
    Location:72106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd12432
    Location:9981084
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:11521223
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
  2. NM_001164815.1NP_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/Swiss-Prot
    Q9UKV3
    UniProtKB/TrEMBL
    B4DQZ7
    Related
    ENSP00000405677.1, ENST00000457657.5
    Conserved Domains (3) summary
    smart00513
    Location:72106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd12432
    Location:9711057
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:11251196
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
  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
    cd12432
    Location:284370
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:479509
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
  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/Swiss-Prot
    Q9UKV3
    Related
    ENSP00000350073.2, ENST00000357481.6
    Conserved Domains (2) summary
    cd12432
    Location:253339
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:448478
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
  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
  6. NM_014977.3NP_055792.1  apoptotic chromatin condensation inducer in the nucleus isoform 1

    See identical proteins and their annotated locations for NP_055792.1

    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
    ENSP00000262710.1, ENST00000262710.5
    Conserved Domains (3) summary
    smart00513
    Location:72106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    cd12432
    Location:10111097
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:11651236
    RSB_motif; RNSP1-SAP18 binding (RSB) motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005267415.4XP_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
  2. XM_005267416.4XP_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
  3. XM_005267418.1XP_005267475.1  apoptotic chromatin condensation inducer in the nucleus isoform X6

    See identical proteins and their annotated locations for XP_005267475.1

    UniProtKB/Swiss-Prot
    Q9UKV3
    Related
    ENSP00000380502.3, ENST00000397341.7
    Conserved Domains (2) summary
    cd12432
    Location:253339
    RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
    pfam16294
    Location:448478
    RSB_motif; RNSP1-SAP18 binding (RSB) motif
  4. XM_011536570.3XP_011534872.1  apoptotic chromatin condensation inducer in the nucleus isoform X3

    Conserved Domains (1) summary
    smart00513
    Location:72106
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
  5. XM_024449512.1XP_024305280.1  apoptotic chromatin condensation inducer in the nucleus isoform X5

    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
  6. XM_006720081.4XP_006720144.1  apoptotic chromatin condensation inducer in the nucleus isoform X4

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

RNA

  1. XR_429297.4 RNA Sequence

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