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  2. NCAPD3 - non-SMC condensin II complex subunit D3 Gene

NCAPD3 - non-SMC condensin II complex subunit D3 Gene

中文名称:非 SMC 凝聚素 II 复合亚基 D3

种属: Homo sapiens

同用名: CAPD3; hcp-6; CAP-D3; MCPH22; hHCP-6; hCAP-D3

基因 ID: 23310 | 基因类型: protein coding

关于 NCAPD3

Cytogenetic location: 11q25 Genomic coordinates (GRCh38): 11:134,150,113-134,225,461 (from NCBI)

This gene has 29 transcripts (splice variants), 193 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in prostate (RPKM 42.0), bone marrow (RPKM 7.1) and 20 other tissues.

功能概要

凝缩蛋白复合物 I 和 II 在有丝分裂染色体组装和分离中起重要作用。两种凝缩蛋白均包含 2 个不变的染色体结构维护 (SMC) 亚基 SMC2 (MIM 605576) 和 SMC4 (MIM 605575) ,但它们包含不同组的非 SMC 亚基。 NCAPD3 是定义凝缩蛋白 II 的 3 个非 SMC 亚基之一 (Ono 等人,2003 [PubMed 14532007]) 。[OMIM 提供,2008 年 3 月]

Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]

NCAPD3 基因产物(5)

mRNA Protein Name
NM_001372065.1 NP_001358994.1 condensin-2 complex subunit D3 isoform 3
NM_001372068.1 NP_001358997.1 condensin-2 complex subunit D3 isoform 2
NM_001372069.1 NP_001358998.1 condensin-2 complex subunit D3 isoform 4
NM_001372070.1 NP_001358999.1 condensin-2 complex subunit D3 isoform 4
NM_015261.3 NP_056076.1 condensin-2 complex subunit D3 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 methylated histone binding IDA
IDA: 通过直接分析推断
20622854 GOA
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
14532007 GOA
involved in mitotic chromosome condensation IMP
IMP: 通过突变表型推断
27737959 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
14532007 GOA
located in pericentric heterochromatin IDA
IDA: 通过直接分析推断
20551165 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

NCAPD3 蛋白结构

Cohesin_HEAT

Cohesin_HEAT: HEAT repeat associated with sister chromatid cohesion (542 - 565)

Cnd1

Cnd1: non-SMC mitotic condensation complex subunit 1 (955 - 1152)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1498 a.a.
蛋白主名 其他名称

condensin-2 complex subunit D3

NCAPD3 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 NCAPD3 P42695 NCAPH2 Homo sapiens Q6IBW4
Anti Tag CoIP
26496610
Intra NCAPD3 P42695 NCAPH2 Homo sapiens Q6IBW4
Anti Bait CoIP
17268547
Intra NCAPD3 P42695 GAPDH Homo sapiens P04406
Anti Bait CoIP
29028794
Intra NCAPD3 P42695 EPRS1 Homo sapiens P07814
Anti Bait CoIP
29028794
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 22, Primary, Autosomal Recessive

MCPH22

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Microcephaly 19, Primary, Autosomal Recessive

MCPH19

Primary Autosomal Recessive Microcephaly 19

Microcephaly, Type 19, Primary, Autosomal Recessive

Glanders

Farcy Pipes

Infection Due To Pseudomonas Mallei

Burkholderia Mallei

Burkholderia Mallei Infection

Equina

Equine Glanders

Farcy

Farcy Buds

Farcy Cords

Infection Due To Actinobacillus Mallei

Infection Due To Malleomyces Mallei

Maliasmus

Malleus

Farce

Actinobacillosis

Actinobacillus Infection

Currarino Syndrome

Currarino Triad

Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation

CURRAS

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus NCAPD3 MGD MGI:2142989
Macaca mulatta NCAPD3 VGNC VGNC:75037
Felis catus NCAPD3 VGNC VGNC:63731
Bos taurus NCAPD3 VGNC VGNC:31902
Rattus norvegicus NCAPD3 RGD RGD:1562176
Canis familiaris NCAPD3 VGNC VGNC:43640