2. Gene
  3. F8A1 - coagulation factor VIII associated 1 Gene

F8A1 - coagulation factor VIII associated 1 Gene

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

中文名称：凝血因子 VIII 相关 1

种属: Homo sapiens

同用名: F8A; HAP40; DXS522E

基因 ID: 8263 | 基因类型: protein coding

关于 F8A1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,886,355-154,888,061 (from NCBI)

This gene has 1 transcript (splice variant), 181 orthologues and 2 paralogues.

功能概要

该基因完全包含在因子 VIII 基因的内含子 22 中；跨度小于 2 kb，转录方向与因子 VIII 相反。包含 F8A 的内含子 22 (int22h) 的一部分在靠近 Xq 端粒的地方重复两次。虽然其功能未知，但观察到该基因在小鼠中是保守的，这表明它具有某些功能。与因子 VIII 不同，该基因在多种细胞类型中大量转录。[RefSeq 提供，2008 年 7 月]

This gene is contained entirely within intron 22 of the Factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of Factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike Factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]

F8A1 基因产物(1)

mRNA Protein Name
NM_012151.4 NP_036283.2 40-kDa huntingtin-associated protein
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
29466333 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
27815841 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IDA
IDA: 通过直接分析推断
16476778 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
蛋白主名 其他名称

40-kDa huntingtin-associated protein

coagulation factor VIII-associated (intronic transcript) 1

关联疾病

疾病名称 别名
Hemophilia A

Factor Viii Deficiency

Haemophilia A

Mild Hemophilia A

HEMA

Hemophilia, Classic

Classic Hemophilia

Factor 8 Deficiency

Severe Hemophilia A

Classical Hemophilia

Hem A

Hemophilia A, Congenital

Mild Congenital F8 Deficiency

Mild Congenital Factor Viii Deficiency

Severe Congenital F8 Deficiency

Severe Congenital Factor Viii Deficiency

Moderate Hemophilia A

Moderate Congenital F8 Deficiency

Moderate Congenital Factor Viii Deficiency

Bleeding Disorder In Hemophilia A Carriers

Congenital F8 Deficiency

Congenital Fviii Deficiency

Congenital Factor Viii Deficiency

Mild Hereditary Factor Viii Deficiency Disease

Severe Hereditary Factor Viii Deficiency Disease

Ahg - [Antihaemophilic Globulin] Deficiency

Ahg - [Antihaemophilic Globulin] Deficiency Disease

Congenital Factor Viii Disorder

Sex-Linked Factor Viii Deficiency

Antihaemophilic Globulin Deficiency

Classic Haemophilia

Familial Haemophilia

Haemophilia

Hereditary Haemophilia

Subhaemophilia

Haemophilia Nos
Factor Viii Deficiency

Autosomal Hemophilia A

Hemophilia A

Autosomal Factor Viii Deficiency

Classic Hemophilia A

Congenital Factor Viii Disorder

Subhemophilia

Factor 8 Deficiency, Congenital

Factor Viii
X-Linked Nephrogenic Diabetes Insipidus

Nephrogenic Diabetes Insipidus Type 1

Doid:0081060
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-RS04647 F8A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus F8A1 MGD MGI:95474
Rattus norvegicus F8A1 RGD RGD:1566014
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