RANBP1 - RAN binding protein 1 Gene

Also Known as HTF9A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5902

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GDP-dissociation inhibitor activity IMP
IMP: Inferred from mutant phenotype
7616957 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
7616957 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
25743254 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RANBP1 Protein Structure

Ran_BP1

Ran_BP1: RanBP1 domain (37 - 161)

  • 0
  • 100
  • 201 a.a.
Protein Preferred Names Protein Names

ran-specific GTPase-activating protein

  • HpaII tiny fragments locus 9A

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11642 RANBP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others RANBP1 NCBI