2. Gene
  3. FAAP100 - FA core complex associated protein 100 Gene

FAAP100 - FA core complex associated protein 100 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：FA 核心复合物相关蛋白 100

种属: Homo sapiens

同用名: C17orf70

基因 ID: 80233 | 基因类型: protein coding

关于 FAAP100

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,539,891-81,553,133 (from NCBI)

This gene has 7 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in spleen (RPKM 8.4), prostate (RPKM 5.1) and 25 other tissues.

功能概要

FAAP100 是 Fanconi 贫血 (FA; MIM 277650) 核心复合体的一个组成部分，是核心复合体稳定性和 FANCD2 (参见 MIM 227646) 单泛素化所必需的 (Ling 等人，2007 [PubMed 17396147]) 。[OMIM 提供，3 月 2008]

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]

FAAP100 基因产物(1)

mRNA Protein Name
NM_025161.6 NP_079437.5 Fanconi anemia core complex-associated protein 100 isoform b
基因本体论
  • 分子功能
  • 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
17396147 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
22343915 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

FAAP100 蛋白结构

FANCAA

FANCAA: Fanconi anemia-associated (449 - 881)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 881 a.a.
蛋白主名 其他名称

Fanconi anemia core complex-associated protein 100

Fanconi anemia associated protein 100 kDa subunit

FAAP100 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 FAAP100 Q0VG06 FANCB Homo sapiens Q8NB91
Anti Bait CoIP
17396147
Intra FAAP100 Q0VG06 FANCB Homo sapiens Q8NB91
Protein 3 Hybrid
17396147
Intra FAAP100 Q0VG06 FANCB Homo sapiens Q8NB91
Y2H
17396147
Intra FAAP100 Q0VG06 CFTR Homo sapiens P13569
Ub Reconstruction
35156780
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
Fanconi Anemia, Complementation Group O

Fanconi Anemia Complementation Group O

FANCO
Fanconi Anemia, Complementation Group Q

Fanconi Anemia Complementation Group Q

FANCQ
Fanconi Anemia, Complementation Group T

Fanconi Anemia Complementation Group T

FANCT
Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04654 FAAP100 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus FAAP100 VGNC VGNC:62032
Rattus norvegicus FAAP100 RGD RGD:1306926
Canis familiaris FAAP100 VGNC VGNC:40556
Bos taurus FAAP100 VGNC VGNC:28693
Macaca mulatta FAAP100 VGNC VGNC:72363
Mus musculus FAAP100 MGD MGI:1919135
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