1. Gene
  2. AGFG1 - ArfGAP with FG repeats 1 Gene

AGFG1 - ArfGAP with FG repeats 1 Gene

中文名称:ArfGAP 与 FG 重复 1

种属: Homo sapiens

同用名: HRB; RAB; RIP

基因 ID: 3267 | 基因类型: protein coding

关于 AGFG1

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:227,472,156-227,561,217 (from NCBI)

This gene has 8 transcripts (splice variants), 281 orthologues and 28 paralogues. Broad expression in bone marrow (RPKM 27.1), testis (RPKM 16.3) and 24 other tissues.

功能概要

由该基因编码的蛋白质与核孔蛋白有关,核孔蛋白是一类介导核质转运的蛋白质。当 Rev 组装到其 RNA 靶标上时,编码的蛋白质结合人类免疫缺陷病毒 Rev 蛋白的激活域,并且是 Rev 定向 RNA 的核输出所必需的。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 9 月]

The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

AGFG1 基因产物(4)

mRNA Protein Name
NM_001135187.2 NP_001128659.1 arf-GAP domain and FG repeat-containing protein 1 isoform 1
NM_001135188.2 NP_001128660.1 arf-GAP domain and FG repeat-containing protein 1 isoform 3
NM_001135189.2 NP_001128661.1 arf-GAP domain and FG repeat-containing protein 1 isoform 4
NM_004504.5 NP_004495.2 arf-GAP domain and FG repeat-containing protein 1 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11545741 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AGFG1 蛋白结构

ArfGap

ArfGap: Putative GTPase activating protein for Arf (16 - 127)

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  • 562 a.a.
蛋白主名 其他名称

arf-GAP domain and FG repeat-containing protein 1

HIV-1 Rev-binding protein

AGFG1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra AGFG1 P52594 NYAP2 Homo sapiens Q9P242
Y2H Prey Pooling
25416956
Intra AGFG1 P52594 NYAP2 Homo sapiens Q9P242
Validated Y2H
25416956
Intra AGFG1 P52594 NYAP2 Homo sapiens Q9P242
Y2H Array
25416956
Intra AGFG1 P52594 VAMP7 Homo sapiens P51809
Y2H
18775314
Intra AGFG1 P52594 VAMP7 Homo sapiens P51809
Pull Down
18775314
Intra AGFG1 P52594 POLE2 Homo sapiens P56282
Y2H Prey Pooling
25416956
Intra AGFG1 P52594 POLE2 Homo sapiens P56282
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Spermatogenic Failure 9

Male Infertility Due To Globozoospermia

SPGF9

Male Infertility Due To Round-Headed Spermatozoa

Globozoospermia, Complete

Globozoospermia, Total

Globozoospermia

Globozoospermia Syndrome

Round-Headed Sperm Syndrome

Globozoospermia Complete

Globozoospermia Total

Chronic Meningitis
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Hypotrichosis 3

HYPT3

Hypotrichosis Simplex Of The Scalp 2

Htss2

Hypotrichosis, Type 3

Testicular Leukemia
Retinal Degeneration

Degeneration Of Retina

Intellectual Developmental Disorder, Autosomal Dominant 5

MRD5

Autosomal Dominant Non-Syndromic Intellectual Disability 5

Intellectual Disability, Autosomal Dominant 5

Mental Retardation, Autosomal Dominant 5

Autosomal Dominant Intellectual Developmental Disorder 5

Syngap1-Related Non-Syndromic Intellectual Disability

Autosomal Dominant Intellectual Disability 5

Syngap1 Syndrome

Syngap1-Related Nsid

Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism

Autoimmune Disease Of Peripheral Nervous System
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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
Macaca mulatta AGFG1 VGNC VGNC:69816
Rattus norvegicus AGFG1 RGD RGD:1560041
Felis catus AGFG1 VGNC VGNC:67645
Mus musculus AGFG1 MGD MGI:1333754
Canis familiaris AGFG1 VGNC VGNC:37700
Bos taurus AGFG1 VGNC VGNC:25725