1. Gene
  2. ESRP1 - epithelial splicing regulatory protein 1 Gene

ESRP1 - epithelial splicing regulatory protein 1 Gene

中文名称:上皮剪接调节蛋白 1

种属: Homo sapiens

同用名: RBM35A; RMB35A; DFNB109

基因 ID: 54845 | 基因类型: protein coding

关于 ESRP1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:94,641,174-94,707,466 (from NCBI)

This gene has 12 transcripts (splice variants), 208 orthologues, 8 paralogues and is associated with 1 phenotype. Broad expression in esophagus (RPKM 33.0), skin (RPKM 32.6) and 15 other tissues.

功能概要

ESPR1 是一种上皮细胞类型特异性剪接调节剂 (Warzecha 等人,2009 [PubMed 19285943]) 。[OMIM 提供,2009 年 8 月]

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

ESRP1 基因产物(5)

mRNA Protein Name
NM_001034915.3 NP_001030087.2 epithelial splicing regulatory protein 1 isoform 2
NM_001122825.2 NP_001116297.1 epithelial splicing regulatory protein 1 isoform 4
NM_001122826.2 NP_001116298.1 epithelial splicing regulatory protein 1 isoform 3
NM_001122827.2 NP_001116299.1 epithelial splicing regulatory protein 1 isoform 5
NM_017697.4 NP_060167.2 epithelial splicing regulatory protein 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mRNA binding IDA
IDA: 通过直接分析推断
19285943 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of RNA splicing IDA
IDA: 通过直接分析推断
19285943 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
19285943 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

ESRP1 蛋白结构

(227 - 296)

(328 - 400)

(447 - 519)

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

epithelial splicing regulatory protein 1

RNA-binding motif protein 35A

ESRP1 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 ESRP1 Q6NXG1 KRTAP19-5 Homo sapiens Q3LI72
Y2H Array
32296183
Intra ESRP1 Q6NXG1 KRTAP19-5 Homo sapiens Q3LI72
Y2H Prey Pooling
32296183
Intra ESRP1 Q6NXG1 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
Intra ESRP1 Q6NXG1 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 ATN1 Homo sapiens Q86V38
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 ATN1 Homo sapiens Q86V38
Y2H Array
32814053
Intra ESRP1 Q6NXG1 ATN1 Homo sapiens Q86V38
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 RBPMS2 Homo sapiens Q6ZRY4
Anti Tag CoIP
33961781
Intra ESRP1 Q6NXG1 RBPMS2 Homo sapiens Q6ZRY4
Y2H Prey Pooling
32296183
Intra ESRP1 Q6NXG1 RBPMS2 Homo sapiens Q6ZRY4
Validated Y2H
32296183
Intra ESRP1 Q6NXG1 RBPMS2 Homo sapiens Q6ZRY4
Y2H Array
32296183
Intra ESRP1 Q6NXG1 OXER1 Homo sapiens Q8TDS5
Y2H Prey Pooling
32296183
Intra ESRP1 Q6NXG1 OXER1 Homo sapiens Q8TDS5
Validated Y2H
32296183
Intra ESRP1 Q6NXG1 OXER1 Homo sapiens Q8TDS5
Y2H Array
32296183
Intra ESRP1 Q6NXG1 F13A1 Homo sapiens P00488
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 F13A1 Homo sapiens P00488
Y2H Array
32814053
Intra ESRP1 Q6NXG1 F13A1 Homo sapiens P00488
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 DCTN1 Homo sapiens Q14203-5
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 DCTN1 Homo sapiens Q14203-5
Y2H Array
32814053
Intra ESRP1 Q6NXG1 DCTN1 Homo sapiens Q14203-5
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 q9y649_human Homo sapiens Q9Y649
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 q9y649_human Homo sapiens Q9Y649
Y2H Array
32814053
Intra ESRP1 Q6NXG1 q9y649_human Homo sapiens Q9Y649
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra ESRP1 Q6NXG1 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 HSPB1 Homo sapiens P04792
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 HSPB1 Homo sapiens P04792
Y2H Array
32814053
Intra ESRP1 Q6NXG1 HSPB1 Homo sapiens P04792
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 VIM Homo sapiens P08670
Y2H Array
32814053
Intra ESRP1 Q6NXG1 VIM Homo sapiens P08670
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 VIM Homo sapiens P08670
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 CCT5 Homo sapiens P48643
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 CCT5 Homo sapiens P48643
Y2H Array
32814053
Intra ESRP1 Q6NXG1 CCT5 Homo sapiens P48643
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 MED25 Homo sapiens Q71SY5
Validated Y2H
32296183
Intra ESRP1 Q6NXG1 RNF11 Homo sapiens Q9Y3C5
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 RNF11 Homo sapiens Q9Y3C5
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 RNF11 Homo sapiens Q9Y3C5
Y2H Array
32814053
Intra ESRP1 Q6NXG1 TTR Homo sapiens P02766
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 TTR Homo sapiens P02766
Y2H Array
32814053
Intra ESRP1 Q6NXG1 TTR Homo sapiens P02766
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 PECAM1 Homo sapiens P16284
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 PECAM1 Homo sapiens P16284
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 PECAM1 Homo sapiens P16284
Y2H Array
32814053
Intra ESRP1 Q6NXG1 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra ESRP1 Q6NXG1 WFS1 Homo sapiens O76024
Y2H Array
32814053
Intra ESRP1 Q6NXG1 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
25416956
Intra ESRP1 Q6NXG1 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
32296183
Intra ESRP1 Q6NXG1 ATXN1 Homo sapiens P54253
Y2H Array
25416956
Intra ESRP1 Q6NXG1 ATXN1 Homo sapiens P54253
Y2H Array
32296183
Intra ESRP1 Q6NXG1 KLHDC7B Homo sapiens Q96G42
Validated Y2H
32296183
Intra ESRP1 Q6NXG1 KLHDC7B Homo sapiens Q96G42
Y2H Array
32296183
Intra ESRP1 Q6NXG1 KLHDC7B Homo sapiens Q96G42
Y2H Prey Pooling
32296183
Intra ESRP1 Q6NXG1 ATP1A3 Homo sapiens P13637
Validated Y2H
32814053
Intra ESRP1 Q6NXG1 ATP1A3 Homo sapiens P13637
Y2H Array
32814053
Intra ESRP1 Q6NXG1 ATP1A3 Homo sapiens P13637
Y2H Pooling
32814053
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
Deafness, Autosomal Recessive 109

DFNB109

Autosomal Recessive Nonsyndromic Deafness 109

Autosomal Recessive Deafness 109

Deafness, Autosomal Recessive, 109

Uterine Corpus Endometrial Carcinoma
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

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
Bos taurus ESRP1 VGNC VGNC:28606
Macaca mulatta ESRP1 VGNC VGNC:72358
Mus musculus ESRP1 MGD MGI:1917326
Canis familiaris ESRP1 VGNC VGNC:40478
Felis catus ESRP1 VGNC VGNC:61965
Rattus norvegicus ESRP1 RGD RGD:1560481