1. Gene
  2. NCAPH - non-SMC condensin I complex subunit H Gene

NCAPH - non-SMC condensin I complex subunit H Gene

中文名称:非 SMC 凝聚素 I 复合亚基 H

种属: Homo sapiens

同用名: CAPH; BRRN1; CAP-H; MCPH23

基因 ID: 23397 | 基因类型: protein coding

关于 NCAPH

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:96,335,766-96,377,091 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 8.6), bone marrow (RPKM 4.4) and 11 other tissues.

功能概要

该基因编码 barr 基因家族的一个成员和凝缩蛋白复合物的一个调节亚基。该复合物是将间期染色质转化为浓缩染色体所必需的。由该基因编码的蛋白质与有丝分裂染色体有关,但在染色体浓缩的早期阶段除外。在间期,蛋白质具有明显的点状核仁定位。已经描述了编码不同蛋白质的可变剪接转录物变体。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

NCAPH 基因产物(4)

mRNA Protein Name
NM_001281710.2 NP_001268639.1 condensin complex subunit 2 isoform 2
NM_001281711.2 NP_001268640.1 condensin complex subunit 2 isoform 3
NM_001281712.2 NP_001268641.1 condensin complex subunit 2 isoform 4
NM_015341.5 NP_056156.2 condensin complex subunit 2 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
17268547 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic chromosome condensation IDA
IDA: 通过直接分析推断
11136719 GOA
involved in mitotic chromosome condensation IMP
IMP: 通过突变表型推断
27737959 GOA
involved in positive regulation of chromosome condensation IDA
IDA: 通过直接分析推断
17268547 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of condensin complex IDA
IDA: 通过直接分析推断
11136719 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

NCAPH 蛋白结构

Cnd2

Cnd2: Condensin complex subunit 2 (41 - 739)

  • 0
  • 200
  • 400
  • 600
  • 741 a.a.
蛋白主名 其他名称

condensin complex subunit 2

barren homolog 1

NCAPH 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
种属内
NCAPH Q15003 NCAPD2 Homo sapiens Q15021 35271311
种属内
NCAPH Q15003 NCAPD2 Homo sapiens Q15021 17268547
种属内
NCAPH Q15003 NCAPD2 Homo sapiens Q15021 17268547
种属内
NCAPH Q15003 NCAPD2 Homo sapiens Q15021 26496610
种属内
NCAPH Q15003 SMC2 Homo sapiens O95347 35271311
种属内
NCAPH Q15003 SMC2 Homo sapiens O95347 17268547
种属内
NCAPH Q15003 SMC2 Homo sapiens O95347 21633354
种属内
NCAPH Q15003 SMC2 Homo sapiens O95347 26496610
种属内
NCAPH Q15003 SMC2 Homo sapiens O95347 17268547
种属内
NCAPH Q15003 SMC4 Homo sapiens Q9NTJ3 17268547
种属内
NCAPH Q15003 SMC4 Homo sapiens Q9NTJ3 35271311
种属内
NCAPH Q15003 SMC4 Homo sapiens Q9NTJ3 26496610
种属内
NCAPH Q15003 SMC4 Homo sapiens Q9NTJ3 17268547
种属内
NCAPH Q15003 NCAPG Homo sapiens Q9BPX3 17268547
种属内
NCAPH Q15003 NCAPG Homo sapiens Q9BPX3 26496610
种属内
NCAPH Q15003 NCAPG Homo sapiens Q9BPX3 35271311
种属内
NCAPH Q15003 NCAPG Homo sapiens Q9BPX3 17268547
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
Microcephaly 23, Primary, Autosomal Recessive

MCPH23

Ovary Serous Adenocarcinoma

Malignant Ovarian Serous Tumor

Serous Carcinoma Of Ovary

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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
Felis catus NCAPH VGNC VGNC:63734
Rattus norvegicus NCAPH RGD RGD:1596799
Canis familiaris NCAPH VGNC VGNC:43643
Bos taurus NCAPH VGNC VGNC:31905
Mus musculus NCAPH MGD MGI:2444777
Macaca mulatta NCAPH VGNC VGNC:108147