1. Gene
  2. IPO8 - importin 8 Gene

IPO8 - importin 8 Gene

Homo sapiens

Also known as VISS; RANBP8

Gene ID: 10526 | Gene type: protein coding

About IPO8

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:30,628,988-30,695,869 (from NCBI)

This gene has 11 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 11.8), testis (RPKM 10.7) and 25 other tissues.

Summary

The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

IPO8 Products(2)

mRNA Protein Name
NM_001190995.2 NP_001177924.1 importin-8 isoform 2
NM_006390.4 NP_006381.2 importin-8 isoform 1

IPO8 Protein Structure

IBN_N

IBN_N: Importin-beta N-terminal domain (22 - 101)

Cse1

Cse1: Cse1 (201 - 441)

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  • 1037 a.a.
Protein Preferred Names Protein Names

importin-8

RAN binding protein 8

Related Diseases

Diseases Alias
Viss Syndrome

VISS

Vascular Aneurysm, Immune Dysregulation, Skeletal Anomalies, And Skin And Joint Laxity

Aortic Aneurysm

Aortic Rupture

Thoracoabdominal Aortic Aneurysm, Ruptured

Ruptured Aortic Aneurysm

Aortic Aneurysms

Aortic Aneurysm Without Mention Of Rupture Nos

Ruptured Abdominal Aortic Aneurysm

Aortic Aneurysm, Ruptured

Ruptured Thoracic Aortic Aneurysm

Autosomal Recessive Nonsyndromic Deafness 32

Deafness, Autosomal Recessive 32

Autosomal Recessive Deafness 105

Autosomal Recessive Deafness 32

Dfnb32

Hearing Impairment Infertile Male Syndrome

Hiims

Deafness, Autosomal Recessive, Type 32

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta IPO8 VGNC VGNC:73815
Mus musculus IPO8 MGD MGI:2444611
Bos taurus IPO8 VGNC VGNC:30245
Felis catus IPO8 VGNC VGNC:69234
Canis familiaris IPO8 VGNC VGNC:42068
Rattus norvegicus IPO8 RGD RGD:1593688