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  2. SFSWAP - splicing factor SWAP Gene

SFSWAP - splicing factor SWAP Gene

中文名称:剪接因子交换

种属: Homo sapiens

同用名: SWAP; SFRS8

基因 ID: 6433 | 基因类型: protein coding

关于 SFSWAP

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:131,711,090-131,799,738 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 11.1), spleen (RPKM 9.4) and 25 other tissues.

功能概要

该基因编码果蝇剪接调节蛋白的人类同系物。该基因通过控制其前两个内含子的剪接来自动调节其表达。此外,它还调节纤连蛋白和 CD45 基因的剪接。已经鉴定出编码不同亚型的两种转录物变体。[RefSeq 提供,2012 年 5 月]

This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

SFSWAP 基因产物(2)

mRNA Protein Name
NM_001261411.2 NP_001248340.1 splicing factor, suppressor of white-apricot homolog isoform 1
NM_004592.4 NP_004583.2 splicing factor, suppressor of white-apricot homolog 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
26420826 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

SFSWAP 蛋白结构

DRY_EERY

DRY_EERY: Alternative splicing regulator (34 - 157)

Surp

Surp: Surp module (209 - 259)

Surp

Surp: Surp module (458 - 504)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 951 a.a.
蛋白主名 其他名称

splicing factor, suppressor of white-apricot homolog

splicing factor SWAP homolog

SFSWAP 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
种属内
SFSWAP Q12872 CFAP20 Homo sapiens Q9Y6A4 33961781
种属内
SFSWAP Q12872 SF1 Homo sapiens Q15637 26420826
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 Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis

Congenital Infundibular Stenosis

Infundibular Pulmonic Stenosis

Infundibular Pulmonic Stenosis, Congenital

Subvalvular Pulmonic Stenosis

Meninges Sarcoma

Meningeal Sarcoma

Sarcoma Of Meninges

Meningothelial Sarcoma

Leptomeningeal Sarcoma

Deafness, Autosomal Dominant 27

DFNA27

Autosomal Dominant Nonsyndromic Deafness 27

Autosomal Dominant Deafness 27

Deafness, Autosomal Dominant, 27

Supraglottis Neoplasm

Neoplasm Of Supraglottis

Supraglottic Tumor

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 SFSWAP VGNC VGNC:77188
Mus musculus SFSWAP MGD MGI:101760
Bos taurus SFSWAP VGNC VGNC:34524
Rattus norvegicus SFSWAP RGD RGD:1305004
Felis catus SFSWAP VGNC VGNC:65065
Canis familiaris SFSWAP VGNC VGNC:46084
Others SFSWAP NCBI