1. Gene
  2. RGPD1 - RANBP2 like and GRIP domain containing 1 Gene

RGPD1 - RANBP2 like and GRIP domain containing 1 Gene

Homo sapiens

Also known as RGP1; RGPD2; RanBP2L2; ranBP2L6

Gene ID: 400966 | Gene type: protein coding

About RGPD1

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,913,324-87,013,976 (from NCBI)

This gene has 4 transcripts (splice variants), 21 orthologues and 10 paralogues. Broad expression in testis (RPKM 17.9), liver (RPKM 7.1) and 23 other tissues.

Summary

Predicted to contribute to GTPase activator activity. Predicted to be involved in NLS-bearing protein import into nucleus. Predicted to be part of nuclear pore. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

RGPD1 Products(3)

mRNA Protein Name
NM_001024457.4 NP_001019628.3 RANBP2-like and GRIP domain-containing protein 1 isoform 2
NM_001382344.1 NP_001369273.1 RANBP2-like and GRIP domain-containing protein 1 isoform 1
NM_001410915.1 NP_001397844.1 RANBP2-like and GRIP domain-containing protein 1 isoform 3

RGPD1 Protein Structure

TPR_1

TPR_1: Tetratricopeptide repeat (52 - 82)

Ran_BP1

Ran_BP1: RanBP1 domain (1033 - 1153)

Ran_BP1

Ran_BP1: RanBP1 domain (1330 - 1450)

GRIP

GRIP: GRIP domain (1689 - 1732)

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  • 1748 a.a.
Protein Preferred Names Protein Names

RANBP2-like and GRIP domain-containing protein 1

RANBP2-like and GRIP domain-containing protein 1/2

Related Diseases

Diseases Alias
Myoclonic Cerebellar Dyssynergia

Dyssynergia Cerebellaris Myoclonica

Progressive Cerebellar Tremor

Dentate Cerebellar Ataxia

Dentatorubral Atrophy

Dyssynergia Cerebellaris Progressiva

Myoclonus And Ataxia

Primary Dentatum Atrophy

Progressive Myoclonus Ataxia

Ramsay Hunt Cerebellar Syndrome

Ramsay Hunt Syndrome Type 1

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Mus musculus RGPD1 MGD MGI:894323