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Aliases for ACIN1 Gene

Aliases for ACIN1 Gene

  • Apoptotic Chromatin Condensation Inducer 1 2 3 5
  • Functional Spliceosome-Associated Protein 152 2 3
  • ACINUS 3 4
  • Apoptotic Chromatin Condensation Inducer In The Nucleus 2
  • KIAA0670 4
  • FSAP152 3
  • ACN 3

External Ids for ACIN1 Gene

Previous HGNC Symbols for ACIN1 Gene

  • ACINUS

Previous GeneCards Identifiers for ACIN1 Gene

  • GC14M021518
  • GC14M022597
  • GC14M023527
  • GC14M003644

Summaries for ACIN1 Gene

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 myoepithelial neoplasm and breast adenomyoepithelioma. Among its related pathways are RNA transport and Apoptotic cleavage of cellular proteins. GO annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for ACIN1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACIN1 Gene

Genomics for ACIN1 Gene

Regulatory Elements for ACIN1 Gene

Promoters for ACIN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACIN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACIN1 Gene

Chromosome:
14
Start:
23,058,564 bp from pter
End:
23,095,614 bp from pter
Size:
37,051 bases
Orientation:
Minus strand

Genomic View for ACIN1 Gene

Genes around ACIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACIN1 Gene

Proteins for ACIN1 Gene

  • Protein details for ACIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKV3-ACINU_HUMAN
    Recommended name:
    Apoptotic chromatin condensation inducer in the nucleus
    Protein Accession:
    Q9UKV3
    Secondary Accessions:
    • B2RTT4
    • D3DS45
    • O75158
    • Q9UG91
    • Q9UKV1
    • Q9UKV2

    Protein attributes for ACIN1 Gene

    Size:
    1341 amino acids
    Molecular mass:
    151862 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for ACIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACIN1 Gene

Proteomics data for ACIN1 Gene at MOPED

Post-translational modifications for ACIN1 Gene

  • Phosphorylation on Ser-1180 by SRPK2 up-regulates its stimulatory effect on cyclin A1.
  • Undergoes proteolytic cleavage; the processed form is active, contrary to the uncleaved form.
  • Ubiquitination at Lys 5, Lys 103, Lys 143, Lys 823, and Lys 831
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACIN1 (acinus)

No data available for DME Specific Peptides for ACIN1 Gene

Domains & Families for ACIN1 Gene

Gene Families for ACIN1 Gene

Protein Domains for ACIN1 Gene

Suggested Antigen Peptide Sequences for ACIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKV3

UniProtKB/Swiss-Prot:

ACINU_HUMAN :
  • Contains 1 SAP domain.
Domain:
  • Contains 1 SAP domain.
genes like me logo Genes that share domains with ACIN1: view

Function for ACIN1 Gene

Molecular function for ACIN1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ACIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18951082
GO:0016887 ATPase activity NAS 10490026
genes like me logo Genes that share ontologies with ACIN1: view
genes like me logo Genes that share phenotypes with ACIN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ACIN1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACIN1 Gene

Localization for ACIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACIN1 Gene

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
Jensen Localization Image for ACIN1 Gene COMPARTMENTS Subcellular localization image for ACIN1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for ACIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0061574 ASAP complex IDA 12665594
genes like me logo Genes that share ontologies with ACIN1: view

Pathways & Interactions for ACIN1 Gene

genes like me logo Genes that share pathways with ACIN1: view

Pathways by source for ACIN1 Gene

1 GeneTex pathway for ACIN1 Gene
3 KEGG pathways for ACIN1 Gene

SIGNOR curated interactions for ACIN1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ACIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0012501 programmed cell death TAS --
GO:0030263 apoptotic chromosome condensation IDA 10490026
GO:0045657 positive regulation of monocyte differentiation IEP 12393560
genes like me logo Genes that share ontologies with ACIN1: view

Drugs & Compounds for ACIN1 Gene

No Compound Related Data Available

Transcripts for ACIN1 Gene

Unigene Clusters for ACIN1 Gene

Apoptotic chromatin condensation inducer 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACIN1 Gene

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:
SP6: -
SP7:

Relevant External Links for ACIN1 Gene

GeneLoc Exon Structure for
ACIN1
ECgene alternative splicing isoforms for
ACIN1

Expression for ACIN1 Gene

mRNA expression in normal human tissues for ACIN1 Gene

Protein differential expression in normal tissues from HIPED for ACIN1 Gene

This gene is overexpressed in Nasal epithelium (16.0) and Peripheral blood mononuclear cells (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ACIN1 Gene



SOURCE GeneReport for Unigene cluster for ACIN1 Gene Hs.124490

mRNA Expression by UniProt/SwissProt for ACIN1 Gene

Q9UKV3-ACINU_HUMAN
Tissue specificity: Ubiquitous. The Ser-1180 phosphorylated form (by SRPK2) is highly expressed and phosphorylated in patients with myeloid hematologic malignancies.
genes like me logo Genes that share expression patterns with ACIN1: view

Protein tissue co-expression partners for ACIN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ACIN1 Gene

Orthologs for ACIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACIN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACIN1 35
  • 92.05 (n)
  • 92.57 (a)
ACIN1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACIN1 35
  • 90.68 (n)
  • 91.3 (a)
ACIN1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acin1 35
  • 86.65 (n)
  • 86.27 (a)
Acin1 16
Acin1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACIN1 35
  • 99.3 (n)
  • 99.25 (a)
ACIN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acin1 35
  • 87.49 (n)
  • 87.27 (a)
oppossum
(Monodelphis domestica)
Mammalia ACIN1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACIN1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACIN1 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acin1 35
  • 65.78 (n)
  • 71.86 (a)
zebrafish
(Danio rerio)
Actinopterygii acin1a 35
  • 62.36 (n)
  • 65.37 (a)
Dr.12550 35
acin1b 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Acn 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea acin-1 36
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
CSA.6722 36
  • 47 (a)
OneToMany
Species with no ortholog for ACIN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACIN1 Gene

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

Paralogs for ACIN1 Gene

(1) SIMAP similar genes for ACIN1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ACIN1: view

No data available for Paralogs for ACIN1 Gene

Variants for ACIN1 Gene

Sequence variations from dbSNP and Humsavar for ACIN1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs3811182 - 23,080,576(-) GAGAT(A/G)CCTAG nc-transcript-variant, reference, missense
rs1885097 - 23,080,110(+) CTGAG(A/G)TACTA nc-transcript-variant, reference, missense
rs3751501 - 23,080,076(+) AAGGA(A/G)ACAGG nc-transcript-variant, reference, missense
VAR_035777 A colorectal cancer sample
rs11555803 - 23,080,739(-) TTCCA(A/G)AAACC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ACIN1 Gene

Variant ID Type Subtype PubMed ID
nsv901491 CNV Loss 21882294
esv259929 OTHER Complex 20981092
nsv518632 CNV Loss 19592680

Variation tolerance for ACIN1 Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.11; 98.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACIN1 Gene

HapMap Linkage Disequilibrium report
ACIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACIN1 Gene

Disorders for ACIN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACIN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
breast myoepithelial neoplasm
  • breast myoepithelial carcinoma
breast adenomyoepithelioma
  • adenomyoepithelioma of the breast
- elite association - COSMIC cancer census association via MalaCards
Search ACIN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACIN1

Genetic Association Database (GAD)
ACIN1
Human Genome Epidemiology (HuGE) Navigator
ACIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACIN1
genes like me logo Genes that share disorders with ACIN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ACIN1 Gene

Publications for ACIN1 Gene

  1. Acinus is a caspase-3-activated protein required for apoptotic chromatin condensation. (PMID: 10490026) Sahara S. … Tsujimoto Y. (Nature 1999) 2 3 4 23 67
  2. The antiapoptotic protein AAC-11 interacts with and regulates Acinus- mediated DNA fragmentation. (PMID: 19387494) Rigou P. … Poyet J.-L. (EMBO J. 2009) 3 23
  3. A critical role for AKT activation in protecting cells from ionizing radiation-induced apoptosis and the regulation of acinus gene expression. (PMID: 19615784) Park H.S. … Nam S.Y. (Eur. J. Cell Biol. 2009) 3 23
  4. NGF inhibits human leukemia proliferation by downregulating cyclin A1 expression through promoting acinus/CtBP2 association. (PMID: 19668232) Chan C.B. … Ye K. (Oncogene 2009) 3 23
  5. Loss of Acinus inhibits oligonucleosomal DNA fragmentation but not chromatin condensation during apoptosis. (PMID: 16537548) Joselin A.P. … Schwerk C. (J. Biol. Chem. 2006) 3 23

Products for ACIN1 Gene

Sources for ACIN1 Gene

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