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  2. ACIN1 - apoptotic chromatin condensation inducer 1 Gene

ACIN1 - apoptotic chromatin condensation inducer 1 Gene

Homo sapiens

Also known as ACN; ACINUS; fSAP152

Gene ID: 22985 | Gene type: protein coding

About ACIN1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,058,564-23,095,614 (from NCBI)

This gene has 23 transcripts (splice variants) and 263 orthologues. Ubiquitous expression in bone marrow (RPKM 24.7), spleen (RPKM 23.3) and 25 other tissues.

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]

ACIN1 Products(6)

mRNA Protein Name
NM_001164814.1 NP_001158286.1 apoptotic chromatin condensation inducer in the nucleus isoform 2
NM_001164815.1 NP_001158287.1 apoptotic chromatin condensation inducer in the nucleus isoform 3
NM_001164816.2 NP_001158288.1 apoptotic chromatin condensation inducer in the nucleus isoform 4
NM_001164817.2 NP_001158289.1 apoptotic chromatin condensation inducer in the nucleus isoform 5
NM_001386863.1 NP_001373792.1 apoptotic chromatin condensation inducer in the nucleus isoform 6
NM_014977.3 NP_055792.1 apoptotic chromatin condensation inducer in the nucleus isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17332742 GOA
Biological Process GO Annotation Evidence Reference Source
involved in apoptotic chromosome condensation IDA
IDA: Inferred from direct assay
10490026 GOA
involved in erythrocyte differentiation IEP
IEP: Inferred from expression pattern
11208865 GOA
involved in negative regulation of mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
12665594 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
12665594 GOA
involved in positive regulation of monocyte differentiation IEP
IEP: Inferred from expression pattern
12393560 GOA
Cellular Component GO Annotation Evidence Reference Source
part of ASAP complex IDA
IDA: Inferred from direct assay
12665594 GOA
part of exon-exon junction complex IDA
IDA: Inferred from direct assay
16314458 GOA
located in nuclear speck IDA
IDA: Inferred from direct assay
20966198 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10490026 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACIN1 Protein Structure

SAP

SAP: SAP domain (72 - 106)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (1028 - 1078)

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  • 1341 a.a.
Protein Preferred Names Protein Names

apoptotic chromatin condensation inducer in the nucleus

functional spliceosome-associated protein 152

Related Diseases

Diseases Alias
Large Cell Acanthoma
Pilar Sheath Acanthoma

Acanthoma, Pilar Sheath

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ACIN1 VGNC VGNC:37507
Macaca mulatta ACIN1 VGNC VGNC:69437
Rattus norvegicus ACIN1 RGD RGD:1311945
Mus musculus ACIN1 MGD MGI:1891824
Bos taurus ACIN1 VGNC VGNC:25539
Felis catus ACIN1 VGNC VGNC:59509