2. Gene
  3. FAAP24 - FA core complex associated protein 24 Gene

FAAP24 - FA core complex associated protein 24 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 24

种属: Homo sapiens

同用名: C19orf40

基因 ID: 91442 | 基因类型: protein coding

关于 FAAP24

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,972,242-32,978,229 (from NCBI)

This gene has 9 transcripts (splice variants) and 213 orthologues. Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.3) and 23 other tissues.

功能概要

FAAP24 是范可尼贫血 (FA) 核心复合体的一个组成部分 (参见 MIM 227650) ，它在 DNA 损伤反应中起着至关重要的作用 (Ciccia 等人，2007 [PubMed 17289582]) 。[OMIM 提供，2008 年 3 月]

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

FAAP24 基因产物(2)

mRNA Protein Name
NM_001300978.2 NP_001287907.1 Fanconi anemia core complex-associated protein 24 isoform 2
NM_152266.5 NP_689479.1 Fanconi anemia core complex-associated protein 24 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 chromatin binding IDA
IDA: 通过直接分析推断
20347429 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17289582 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in interstrand cross-link repair IDA
IDA: 通过直接分析推断
20347429 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of FANCM-MHF complex IPI
IPI: 通过物理相互作用推断
20347429 GOA
part of Fanconi anaemia nuclear complex IDA
IDA: 通过直接分析推断
20347428 GOA
located in chromatin IDA
IDA: 通过直接分析推断
20347429 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

FAAP24 蛋白结构

HHH_2

HHH_2: Helix-hairpin-helix motif (166 - 214)

  • 0
  • 100
  • 200
  • 215 a.a.
蛋白主名 其他名称

Fanconi anemia core complex-associated protein 24

Fanconi anemia core complex associated protein 24

FAAP24 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
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Pull Down
17289582
种属内
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Gal4 VP16 Complement
17289582
种属内
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Anti Bait CoIP
17289582
种属内
FAAP24 Q9BTP7 FANCM Homo sapiens Q8IYD8
Anti Tag CoIP
33961781
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 T

Fanconi Anemia Complementation Group T

FANCT
Fanconi Anemia, Complementation Group Q

Fanconi Anemia Complementation Group Q

FANCQ
Fanconi Anemia, Complementation Group R

Fanconi Anemia Complementation Group R

FANCR
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
Fanconi Anemia, Complementation Group I

Fanconi Anemia Complementation Group I

FANCI
Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Interstitial Nephritis, Karyomegalic

Karyomegalic Interstitial Nephritis

KMIN

Kin

Systemic Karyomegaly

Karyomegalic Tubulointerstitial Nephritis

Ktn
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
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04655 FAAP24 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21125 Faap24 Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus FAAP24 VGNC VGNC:62033
Mus musculus FAAP24 MGD MGI:2142208
Canis familiaris FAAP24 VGNC VGNC:40557
Rattus norvegicus FAAP24 RGD RGD:1564719
Bos taurus FAAP24 VGNC VGNC:28694
Macaca mulatta FAAP24 VGNC VGNC:72388
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