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

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: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23058564..23095614, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17259183..17296258, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23527773..23564680, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The SRSF3-MBNL1-Acin1 circuit constitutes an emerging axis to lessen DNA fragmentation in colorectal cancer via an alternative splicing mechanism.
Title: The SRSF3-MBNL1-Acin1 circuit constitutes an emerging axis to lessen DNA fragmentation in colorectal cancer via an alternative splicing mechanism.
ACIN1 mRNA was highly expressed in platelets of lung cancer patients
Title: [Expression and Significance of ACIN1 mRNA in Platelets of Lung Cancer].
We conclude that RNPS1 is a key factor for the quality control of mRNAs that is essential for the phenotypes including cell division.
Title: Splicing activator RNPS1 suppresses errors in pre-mRNA splicing: A key factor for mRNA quality control.
Genome-wide identification of RNA targets of Acinus revealed its role in splicing regulation as well as its involvement in other cellular pathways, including cell cycle progression.
Title: The RNA-binding profile of Acinus, a peripheral component of the exon junction complex, reveals its role in splicing regulation.
acinus L was identified as a potential novel mTORC1 target.
Title: Functional Proteomics Identifies Acinus L as a Direct Insulin- and Amino Acid-Dependent Mammalian Target of Rapamycin Complex 1 (mTORC1) Substrate.
Differences in the nuclear localization of Acinus-S' and Acinus-L may suggest that these two isoforms have different functional roles.
Title: The SAP motif and C-terminal RS- and RD/E-rich region influences the sub-nuclear localization of Acinus isoforms.
the ligand-dependent splicing activity of Acinus is related to the retinoic acid-activated retinoic acid receptor
Title: Role of Acinus in regulating retinoic acid-responsive gene pre-mRNA splicing.
An electronegative region on acinusS restricts SRPK2 phosphorylation to a single specific site.
Title: Primary structural features of SR-like protein acinusS govern the phosphorylation mechanism by SRPK2.
Chronic low-dose radiation increases the levels of AKT and acinus proteins via NF-kappaB activation
Title: Chronic low-dose radiation inhibits the cells death by cytotoxic high-dose radiation increasing the level of AKT and acinus proteins via NF-κB activation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_15355-15356:1013456014:1 (e-PCR)
- UniSTS:267824

WI-20153 (e-PCR)
- UniSTS:16489

G35632 (e-PCR)
- UniSTS:10922

D14S791 (e-PCR)
- UniSTS:153528

RH44611 (e-PCR)
- UniSTS:68317

SGC34831 (e-PCR)
- UniSTS:10730

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 more info	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 negative regulation of mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
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
part_of exon-exon junction complex	IDA Inferred from Direct Assay more info	PubMed
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

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Preferred Names: apoptotic chromatin condensation inducer in the nucleus

Names: functional spliceosome-associated protein 152

NCBI Reference Sequences (RefSeq)

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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

NG_030461.2 RefSeqGene

Range

5478..42050

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164814.2 → NP_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
NM_001164815.2 → NP_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
NM_001164816.2 → NP_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:479 → 509

RSB_motif; RNSP1-SAP18 binding (RSB) motif

cd12432
Location:284 → 370

RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
NM_001164817.2 → NP_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:448 → 478

RSB_motif; RNSP1-SAP18 binding (RSB) motif

cd12432
Location:253 → 339

RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
NM_001386863.1 → NP_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:14 → 48

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

PTZ00121
Location:152 → 355

PTZ00121; MAEBL; Provisional

pfam16294
Location:1148 → 1178

RSB_motif; RNSP1-SAP18 binding (RSB) motif

cd12432
Location:953 → 1039

RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
NM_014977.4 → NP_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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

23058564..23095614 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431115.1 → XP_047287071.1 apoptotic chromatin condensation inducer in the nucleus isoform X5
XM_047431113.1 → XP_047287069.1 apoptotic chromatin condensation inducer in the nucleus isoform X3
XM_047431114.1 → XP_047287070.1 apoptotic chromatin condensation inducer in the nucleus isoform X4
XM_005267415.5 → XP_005267472.1 apoptotic chromatin condensation inducer in the nucleus isoform X1

Conserved Domains (3) summary

smart00513
Location:72 → 106

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

cd12432
Location:1010 → 1096

RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins

pfam16294
Location:1164 → 1235

RSB_motif; RNSP1-SAP18 binding (RSB) motif
XM_005267416.5 → XP_005267473.1 apoptotic chromatin condensation inducer in the nucleus isoform X2

Conserved Domains (3) summary

smart00513
Location:72 → 106

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

cd12432
Location:999 → 1085

RRM_ACINU; RNA recognition motif in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins

pfam16294
Location:1153 → 1224

RSB_motif; RNSP1-SAP18 binding (RSB) motif
XM_047431116.1 → XP_047287072.1 apoptotic chromatin condensation inducer in the nucleus isoform X6
XM_005267418.2 → XP_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:448 → 478

RSB_motif; RNSP1-SAP18 binding (RSB) motif

cd12432
Location:253 → 339

RRM_ACINU; RNA recognition motif (RRM) found in apoptotic chromatin condensation inducer in the nucleus (acinus) and similar proteins
XM_047431117.1 → XP_047287073.1 apoptotic chromatin condensation inducer in the nucleus isoform X9
XM_047431120.1 → XP_047287076.1 apoptotic chromatin condensation inducer in the nucleus isoform X13
XM_024449512.2 → XP_024305280.1 apoptotic chromatin condensation inducer in the nucleus isoform X12

Conserved Domains (2) summary

smart00513
Location:72 → 106

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

cl26511
Location:141 → 373

Neuromodulin_N; Gap junction protein N-terminal region
XM_047431119.1 → XP_047287075.1 apoptotic chromatin condensation inducer in the nucleus isoform X11
XM_011536570.4 → XP_011534872.1 apoptotic chromatin condensation inducer in the nucleus isoform X7

Conserved Domains (1) summary

smart00513
Location:72 → 106

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
XM_047431118.1 → XP_047287074.1 apoptotic chromatin condensation inducer in the nucleus isoform X10
XM_006720081.5 → XP_006720144.1 apoptotic chromatin condensation inducer in the nucleus isoform X8

Conserved Domains (1) summary

smart00513
Location:72 → 106

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

17259183..17296258 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375614.1 → XP_054231589.1 apoptotic chromatin condensation inducer in the nucleus isoform X5
XM_054375612.1 → XP_054231587.1 apoptotic chromatin condensation inducer in the nucleus isoform X3
XM_054375613.1 → XP_054231588.1 apoptotic chromatin condensation inducer in the nucleus isoform X4
XM_054375610.1 → XP_054231585.1 apoptotic chromatin condensation inducer in the nucleus isoform X1
XM_054375611.1 → XP_054231586.1 apoptotic chromatin condensation inducer in the nucleus isoform X2
XM_054375622.1 → XP_054231597.1 apoptotic chromatin condensation inducer in the nucleus isoform X14
XM_054375617.1 → XP_054231592.1 apoptotic chromatin condensation inducer in the nucleus isoform X9
XM_054375621.1 → XP_054231596.1 apoptotic chromatin condensation inducer in the nucleus isoform X13
XM_054375620.1 → XP_054231595.1 apoptotic chromatin condensation inducer in the nucleus isoform X12
XM_054375619.1 → XP_054231594.1 apoptotic chromatin condensation inducer in the nucleus isoform X11
XM_054375615.1 → XP_054231590.1 apoptotic chromatin condensation inducer in the nucleus isoform X7
XM_054375618.1 → XP_054231593.1 apoptotic chromatin condensation inducer in the nucleus isoform X10
XM_054375616.1 → XP_054231591.1 apoptotic chromatin condensation inducer in the nucleus isoform X8