2. Gene
  3. RANBP1 - RAN binding protein 1 Gene

RANBP1 - RAN binding protein 1 Gene

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

中文名称：RAN 结合蛋白 1

种属: Homo sapiens

同用名: HTF9A

基因 ID: 5902 | 基因类型: protein coding

关于 RANBP1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,116,104-20,127,355 (from NCBI)

This gene has 14 transcripts (splice variants), 135 orthologues and 10 paralogues. Ubiquitous expression in testis (RPKM 15.4), lymph node (RPKM 10.2) and 25 other tissues.

功能概要

该基因编码的蛋白质与 Ras 相关的核蛋白 (Ran) 形成复合物并代谢三磷酸鸟苷 (GTP) 。该复合物通过控制蛋白质和核酸向细胞核的转运参与细胞周期的调节。该基因在 9 号、12 号、17 号和 X 号染色体上有多个假基因。可变剪接导致多个转录变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RANBP1 基因产物(4)

mRNA Protein Name
NM_001278639.2 NP_001265568.1 ran-specific GTPase-activating protein isoform 1
NM_001278640.2 NP_001265569.1 ran-specific GTPase-activating protein isoform 3
NM_001278641.2 NP_001265570.1 ran-specific GTPase-activating protein isoform 4
NM_002882.4 NP_002873.1 ran-specific GTPase-activating protein isoform 2
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 GDP-dissociation inhibitor activity IMP
IMP: 通过突变表型推断
7616957 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
7616957 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25743254 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

RANBP1 蛋白结构

Ran_BP1

Ran_BP1: RanBP1 domain (37 - 161)

  • 0
  • 100
  • 201 a.a.
蛋白主名 其他名称

ran-specific GTPase-activating protein

HpaII tiny fragments locus 9A

关联疾病

疾病名称 别名
Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome
Ichthyosis, Congenital, Autosomal Recessive 9

Autosomal Recessive Congenital Ichthyosis 9

ARCI9

Ichthyosis, Congenital, Autosomal Recessive, Type 9
Valproate Embryopathy

Fetal Valproate Syndrome

Fetal Valproic Acid Syndrome

Fvs

Valproic Acid Embryopathy

Fetal Valproate Spectrum Disorder

Valproate Embryopathy, Susceptibility To

Foetal Valproate Syndrome

Foetal Valproic Acid Syndrome

Susceptibility To Valproate Embryopathy

Valproic Acid Antenatal Infection
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal
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-RS11642 RANBP1 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 RANBP1 VGNC VGNC:80476
Macaca mulatta RANBP1 VGNC VGNC:76654
Rattus norvegicus RANBP1 RGD RGD:1310521
Bos taurus RANBP1 VGNC VGNC:106890
Canis familiaris RANBP1 VGNC VGNC:52960
Mus musculus RANBP1 MGD MGI:96269
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