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Aliases for ACIN1 Gene

Aliases for ACIN1 Gene

  • Apoptotic Chromatin Condensation Inducer 1 2 3
  • Apoptotic Chromatin Condensation Inducer In The Nucleus 2 3
  • Functional Spliceosome-Associated Protein 152 2 3
  • KIAA0670 4 6
  • ACINUS 3 4
  • FSAP152 3
  • ACN 3

External Ids for ACIN1 Gene

Previous Symbols for ACIN1 Gene

  • ACINUS

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 adenomyoepithelioma. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and RNA transport. GO annotations related to this gene include nucleotide binding and enzyme 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

Genomic Location for ACIN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACIN1 Gene

Regulatory Elements 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
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys5, Lys103, Lys143, Lys823, Lys831, and Lys861

No data available for DME Specific Peptides for ACIN1 Gene

Domains for ACIN1 Gene

Protein Domains for ACIN1 Gene

UniProtKB/Swiss-Prot:

ACINU_HUMAN
Domain:
  • Contains 1 SAP domain.:
    • Q9UKV3
genes like me logo Genes that share domains with ACIN1: view

No data available for Gene Families for ACIN1 Gene

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:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding NAS 10490026
GO:0005515 protein binding IPI 18951082
GO:0016887 ATPase activity NAS 10490026
GO:0019899 enzyme binding NAS 10490026
genes like me logo Genes that share ontologies with ACIN1: view

Phenotypes for ACIN1 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 5
cytosol 4
endosome 1

Gene Ontology (GO) - Cellular Components for ACIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10490026
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ACIN1: view

Pathways for ACIN1 Gene

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

Pathways by source for ACIN1 Gene

1 Cell Signaling Technology pathway for ACIN1 Gene
3 KEGG pathways for ACIN1 Gene

Gene Ontology (GO) - Biological Process for ACIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0006200 obsolete ATP catabolic process --
GO:0006397 mRNA processing IEA --
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
genes like me logo Genes that share ontologies with ACIN1: view

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ACIN1: view

Orthologs for ACIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACIN1 36
  • 99.3 (n)
  • 99.25 (a)
ACIN1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACIN1 36
  • 92.05 (n)
  • 92.57 (a)
ACIN1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACIN1 36
  • 90.68 (n)
  • 91.3 (a)
ACIN1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acin1 36
  • 86.65 (n)
  • 86.27 (a)
Acin1 16
Acin1 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACIN1 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACIN1 37
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acin1 36
  • 87.49 (n)
  • 87.27 (a)
lizard
(Anolis carolinensis)
Reptilia ACIN1 37
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acin1 36
  • 65.78 (n)
  • 71.86 (a)
zebrafish
(Danio rerio)
Actinopterygii acin1a 36
  • 62.36 (n)
  • 65.37 (a)
acin1b 37
  • 40 (a)
OneToOne
Dr.12550 36
fruit fly
(Drosophila melanogaster)
Insecta Acn 37
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea acin-1 37
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToMany
CSA.6722 37
  • 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

Selected 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 MAF
rs717984 -- 23,081,678(-) GACTT(G/T)TTTTG intron-variant
rs763610 -- 23,088,193(-) TCTAA(A/G)ATTGT intron-variant
rs941719 - 23,080,170(+) GACAG(C/G)GGGGG missense, reference, nc-transcript-variant
rs1052671 -- 23,064,440(-) GGGCC(A/G)GCCTG reference, missense, nc-transcript-variant, downstream-variant-500B
rs1885097 - 23,080,110(+) CTGAG(A/G)TACTA missense, reference, nc-transcript-variant

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

Relevant External Links for ACIN1 Gene

HapMap Linkage Disequilibrium report
ACIN1

Disorders for ACIN1 Gene

(1) University of Copenhagen DISEASES for ACIN1 Gene

Relevant External Links for ACIN1

Genetic Association Database (GAD)
ACIN1
Human Genome Epidemiology (HuGE) Navigator
ACIN1
genes like me logo Genes that share disorders with ACIN1: view

No data available for UniProtKB/Swiss-Prot 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
  2. ASAP, a novel protein complex involved in RNA processing and apoptosis. (PMID: 12665594) Schwerk C. … Reinberg D. (Mol. Cell. Biol. 2003) 3 4 23
  3. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PMID: 16314458) Tange T.O. … Moore M.J. (RNA 2005) 3 4 23
  4. 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. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4
  5. The antiapoptotic protein AAC-11 interacts with and regulates Acinus- mediated DNA fragmentation. (PMID: 19387494) Rigou P. … Poyet J.-L. (EMBO J. 2009) 3 4 23

Products for ACIN1 Gene

Sources for ACIN1 Gene

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