1. Gene
  2. ACIN1 - apoptotic chromatin condensation inducer 1 Gene

ACIN1 - apoptotic chromatin condensation inducer 1 Gene

中文名称:凋亡染色质凝聚诱导因子 1

种属: Homo sapiens

同用名: ACN; ACINUS; fSAP152

基因 ID: 22985 | 基因类型: protein coding

关于 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.

功能概要

细胞凋亡由几种形态学核变化定义,包括染色质浓缩和核碎裂。该基因编码一种核蛋白,该蛋白在被 Caspase-3 激活后诱导凋亡染色质浓缩,而不诱导 DNA 片段化。该蛋白质还被证明是剪接依赖性多蛋白外显子连接复合体 (EJC) 的一个组成部分,该复合体沉积在 mRNA 的剪接连接处,这是 pre-mRNA 剪接的结果。因此它可能参与与剪接相关的 mRNA 代谢。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2011 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17332742 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic chromosome condensation IDA
IDA: 通过直接分析推断
10490026 GOA
involved in erythrocyte differentiation IEP
IEP: 通过表达模式推断
11208865 GOA
involved in negative regulation of mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
12665594 GOA
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
12665594 GOA
involved in positive regulation of monocyte differentiation IEP
IEP: 通过表达模式推断
12393560 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ASAP complex IDA
IDA: 通过直接分析推断
12665594 GOA
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
16314458 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
20966198 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10490026 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ACIN1 蛋白结构

SAP

SAP: SAP domain (72 - 106)

RRM_5

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

  • 0
  • 300
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  • 1200
  • 1341 a.a.
蛋白主名 其他名称

apoptotic chromatin condensation inducer in the nucleus

functional spliceosome-associated protein 152

ACIN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra ACIN1 Q9UKV3 SF3A2 Homo sapiens Q15428
Affinity Chrom
17332742
Intra ACIN1 Q9UKV3 PCBD1 Homo sapiens P61457
TAP
20195357
Intra ACIN1 Q9UKV3 PCBD1 Homo sapiens P61457
Display Tech
20195357
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Large Cell Acanthoma
Pilar Sheath Acanthoma

Acanthoma, Pilar Sheath

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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