1. Gene
  2. SF1 - splicing factor 1 Gene

SF1 - splicing factor 1 Gene

中文名称:剪接因子 1

种属: Homo sapiens

同用名: BBP; MBBP; ZFM1; ZNF162; D11S636; ZCCHC25

基因 ID: 7536 | 基因类型: protein coding

关于 SF1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,764,606-64,778,542 (from NCBI)

This gene has 21 transcripts (splice variants), 183 orthologues and 4 paralogues. Ubiquitous expression in bone marrow (RPKM 62.1), testis (RPKM 36.4) and 25 other tissues.

功能概要

该基因编码核前 mRNA 剪接因子。编码的蛋白质特异性识别 3' 剪接位点的内含子分支点序列,以及 U2 辅助因子 (U2AF) 的大亚基,并且是剪接体组装早期阶段所必需的。它还在核前体 mRNA 保留和转录抑制中发挥作用。编码的蛋白质包含一个 N 末端 U2AF 配体基序、一个中心 hnRNP K 同源基序和 quaking 2 区域,它结合分支点序列中的一个关键分支位点腺苷、一个锌关节结构域和一个 C 末端富含脯氨酸的结构域.可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 10 月]

This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

SF1 基因产物(12)

mRNA Protein Name
NM_001178030.2 NP_001171501.1 splicing factor 1 isoform 6
NM_001178031.3 NP_001171502.1 splicing factor 1 isoform 5
NM_001346363.2 NP_001333292.1 splicing factor 1 isoform 9
NM_001346364.2 NP_001333293.1 splicing factor 1 isoform 10
NM_001346409.2 NP_001333338.1 splicing factor 1 isoform 7
NM_001346410.2 NP_001333339.1 splicing factor 1 isoform 8
NM_001378956.1 NP_001365885.1 splicing factor 1 isoform 11
NM_001378957.1 NP_001365886.1 splicing factor 1 isoform 12
NM_004630.4 NP_004621.2 splicing factor 1 isoform 1
NM_201995.3 NP_973724.1 splicing factor 1 isoform 2
NM_201997.3 NP_973726.2 splicing factor 1 isoform 4
NM_201998.3 NP_973727.1 splicing factor 1 isoform 3
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 identical protein binding IPI
IPI: 通过物理相互作用推断
22365833 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10449420 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2AF complex IPI
IPI: 通过物理相互作用推断
23273425 GOA
part of spliceosomal complex IDA
IDA: 通过直接分析推断
9731529 GOA
part of spliceosomal complex IPI
IPI: 通过物理相互作用推断
23273425 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

SF1 蛋白结构

KH_1

KH_1: KH domain (151 - 222)

zf-CCHC

zf-CCHC: Zinc knuckle (278 - 293)

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  • 639 a.a.
蛋白主名 其他名称

splicing factor 1

mammalian branch point-binding protein

关联疾病

疾病名称 别名
Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia

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
Felis catus SF1 VGNC VGNC:65051
Macaca mulatta SF1 VGNC VGNC:77225
Canis familiaris SF1 VGNC VGNC:46066
Mus musculus SF1 MGD MGI:1095403
Rattus norvegicus SF1 RGD RGD:620645
Bos taurus SF1 VGNC VGNC:34505
Macaca fascicularis SF1 NCBI NCBI:102136762
Susscrofa domestica SF1 NCBI
Leporidae SF1 NCBI
Others SF1 NCBI