2. Gene
  3. REPS1 - RALBP1 associated Eps domain containing 1 Gene

REPS1 - RALBP1 associated Eps domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 RALBP1 相关的 Eps 域 1

种属: Homo sapiens

同用名: NBIA7; RALBP1

基因 ID: 85021 | 基因类型: protein coding

关于 REPS1

Cytogenetic location: 6q24.1 Genomic coordinates (GRCh38): 6:138,903,493-138,988,253 (from NCBI)

This gene has 21 transcripts (splice variants), 226 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 17.4), skin (RPKM 9.2) and 25 other tissues.

功能概要

该基因编码具有两个 EH 结构域的信号转导蛋白，该蛋白与参与信号转导、内吞作用和细胞骨架变化的蛋白质相互作用。当 intersectin 1 从网格蛋白涂层的坑中分离出来时，已发现编码的蛋白质与 intersectin 1 和 Src 同源 3 域生长因子受体结合 2 样 (内皮素) 相互作用蛋白 1 有关。编码的蛋白质也被证明与 amphiphysin 相互作用，amphiphysin 是突触小泡表面的一种细胞质蛋白。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2014 年 3 月]

This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

REPS1 基因产物(4)

mRNA Protein Name
NM_001128617.3 NP_001122089.1 ralBP1-associated Eps domain-containing protein 1 isoform b
NM_001286611.2 NP_001273540.1 ralBP1-associated Eps domain-containing protein 1 isoform c
NM_001286612.2 NP_001273541.1 ralBP1-associated Eps domain-containing protein 1 isoform d
NM_031922.5 NP_114128.3 ralBP1-associated Eps domain-containing protein 1 isoform a
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SH3 domain binding IPI
IPI: 通过物理相互作用推断
20946875 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20946875 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated pit IDA
IDA: 通过直接分析推断
20946875 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20946875 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

REPS1 蛋白结构

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (282 - 370)

  • 0
  • 200
  • 400
  • 600
  • 796 a.a.
蛋白主名 其他名称

ralBP1-associated Eps domain-containing protein 1

ralBP1-interacting protein 1

REPS1 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 REPS1 Q96D71 RALBP1 Homo sapiens Q15311
Anti Tag CoIP
33961781
Intra REPS1 Q96D71 RALBP1 Homo sapiens Q15311
Y2H Fragment Pooling
23414517
Cross REPS1 Q96D71 Numb Mus musculus Q9QZS3-1
Pull Down
23211419
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
Neurodegeneration With Brain Iron Accumulation 7

NBIA7
Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation
Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome

Woodhouse Sakati Syndrome

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome

WDSKS

Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia

Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome

Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia

Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome

Neuroectodermal Endocrine Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities

Wss
Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B

Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related

Neuroaxonal Dystrophy, Atypical

Karak Syndrome

Atypical Neuroaxonal Dystrophy

Neurodegeneration With Brain Iron Accumulation Pla2g6-Related

Neurodegeneration, With Brain Iron Accumulation, Type 2b

Neurodegeneration With Brain Iron Accumulation 2
Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11845 REPS1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus REPS1 MGD MGI:1196373
Felis catus REPS1 VGNC VGNC:64573
Rattus norvegicus REPS1 RGD RGD:1307131
Canis familiaris REPS1 VGNC VGNC:53759
Bos taurus REPS1 VGNC VGNC:33869
Macaca mulatta REPS1 VGNC VGNC:76738
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