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

RGPD1 - RANBP2 like and GRIP domain containing 1 Gene

中文名称:含 RANBP2 样和 GRIP 域 1

种属: Homo sapiens

同用名: RGP1; RGPD2; RanBP2L2; ranBP2L6

基因 ID: 400966 | 基因类型: protein coding

关于 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.

功能概要

预计有助于 GTPase 激活剂活性。预计将参与携带 NLS 的蛋白质输入细胞核。预测为核孔的一部分。预计在细胞质中有活性。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

RANBP2-like and GRIP domain-containing protein 1

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

关联疾病

疾病名称 别名
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

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus RGPD1 MGD MGI:894323