RANBP1 - RAN binding protein 1 Gene

Homo sapiens

Also known as HTF9A

Gene ID: 5902 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11642	RANBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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