SON - SON DNA and RNA binding protein Gene

中文名称：SON DNA 和 RNA 结合蛋白

种属: Homo sapiens

同用名: SON3; BASS1; DBP-5; NREBP; TOKIMS; C21orf50

基因 ID: 6651 | 基因类型: protein coding

关于 SON

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,543,038-33,577,481 (from NCBI)

This gene has 22 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 43.7), lymph node (RPKM 33.4) and 25 other tissues.

功能概要

该基因编码的蛋白质包含多个简单重复序列。编码的蛋白质结合 RNA 并促进 pre-mRNA 剪接，特别是剪接位点较差的转录本。该蛋白还识别在人类乙型肝炎病毒 (HBV) 中发现的特定 DNA 序列，并抑制 HBV 核心启动子活性。该基因在 1 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SON 基因产物(6)

mRNA	Protein	Name
NM_001291411.2	NP_001278340.2	protein SON isoform E
NM_001291412.3	NP_001278341.1	protein SON isoform H
NM_001412132.1	NP_001399061.1	protein SON isoform I
NM_001412133.1	NP_001399062.1	protein SON isoform J
NM_032195.3	NP_115571.3	protein SON isoform B
NM_138927.4	NP_620305.3	protein SON isoform F

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 RNA binding	IDA IDA: 通过直接分析推断	21504830	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21504830	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mRNA processing	IDA IDA: 通过直接分析推断	21504830	GOA
acts upstream of microtubule cytoskeleton organization	IMP IMP: 通过突变表型推断	21504830	GOA
acts upstream of mitotic cytokinesis	IMP IMP: 通过突变表型推断	21504830	GOA
involved in negative regulation of apoptotic process	IDA IDA: 通过直接分析推断	10509013	GOA
involved in regulation of RNA splicing	IMP IMP: 通过突变表型推断	27545680	GOA
acts upstream of regulation of cell cycle	IMP IMP: 通过突变表型推断	21504830	GOA
involved in regulation of mRNA splicing, via spliceosome	IDA IDA: 通过直接分析推断	21504830	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nuclear speck	IDA IDA: 通过直接分析推断	21504830	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

SON 蛋白结构

G-patch

DND1_DSRM

0
400
800
1200
1600
2000
2426 a.a.

蛋白主名

其他名称

protein SON

Bax antagonist selected in Saccharomyces 1

关联疾病

疾病名称

别名

Zttk Syndrome

Zhu-Tokita-Takenouchi-Kim Syndrome	ZTTKS
Zttk Multiple Congenital Anomalies-Mental Retardation Syndrome	Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome	SPG17
Silver Spastic Paraplegia Syndrome	Spastic Paraplegia With Amyotrophy Of Hands And Feet
Hereditary Spastic Paraplegia 17	Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17	Spastic Paraplegia-Amyotrophy Of Hands And Feet
Autosomal Dominant Spastic Paraplegia 17	Dhmn5b
Distal Hereditary Motor Neuropathy Type 5b	Paraplegia, Spastic, Autosomal Dominant, Type 17
Russell-Silver Syndrome	Neuronopathy, Distal Hereditary Motor, Type Vb

Hepatitis B

Chronic Hepatitis B	Hepatitis B Infection
Serum Hepatitis	HBV
Hepatitis B Chronic	Hbv, Susceptibility To
Hepatitis B, Chronic	Chronic Hepatitis B Without Delta Agent
Chronic Hbv - [Hepatitis B Virus] Infection	Hepatitis B Nos
Chronic Type B Viral Hepatitis	Hep B Nos

Hepatitis

Chronic Hepatitis	Chronic Persistent Hepatitis
Acute Hepatitis	Hepatitis, Chronic
Acute And Subacute Liver Necrosis	Acute/Subac. Necrosis Of Liver
Animal Hepatitis	Hepatitis Chronic
Hepatitis A	Hepatitis, Animal
Hepatitis Due To Toxoplasmosis	Hepatitis In Toxoplasmosis
Toxoplasmal Hepatitis	Chronic Hepatitis, Unspecified
Chronic Active Hepatitis Nec	Other Specified Chronic Hepatitis
Chronic Persistent Hepatitis Nec	Chronic Lobular Hepatitis Nec

Dysbaric Osteonecrosis

Caisson Disease Of Bone

Don

Crouzon Syndrome With Acanthosis Nigricans

Crouzon Syndrome-Acanthosis Nigricans Syndrome	CAN
Crouzonodermoskeletal Syndrome	Crouzon-Dermoskeletal Syndrome
Crouzon, With Acanthosis Nigricans Syndrome

Lethal Congenital Contracture Syndrome 2

LCCS2	Lethal Congenital Contractural Syndrome 2
Multiple Contracture Syndrome, Israeli-Bedouin Type	Multiple Contracture Syndrome, Israeli Bedouin Type A
Multiple Contracture Syndrome, Israeli Bedouin Type	Lethal Congenital Contracture Syndrome Type 2
Israeli Bedouin Multiple Contracture Syndrome Type A	Contracture Syndrome, Lethal, Congenital, Type 2

Lethal Congenital Contracture Syndrome 1

LCCS1	Multiple Contracture Syndrome, Finnish Type
Lccs	Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures
Lethal Congenital Contracture Syndrome Type 1	Herva Disease
Multiple Contracture Syndrome Finnish Type	Contracture Syndrome, Lethal, Congenital, Type 1

Deafness, Autosomal Recessive 97

DFNB97	Autosomal Recessive Nonsyndromic Deafness 97
Autosomal Recessive Deafness 97	Deafness, Autosomal Recessive, 97
Deafness, Autosomal Recessive, Type 97

Anterior Horn Cell Disease

Lethal Congenital Contracture Syndrome

Lccs	Lethal Congenital Contracture Syndrome 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-125817	BI-3406	Inhibitor	99.95%	否
HY-114398	BAY-293	Inhibitor	98.91%	否
HY-132966	ASP2453	Inhibitor	98.28%	否
HY-153606	SOS1 agonist-1	Activator	97.24%	否
HY-144965	SOS1-IN-12	Inhibitor	/	否
HY-144967	SOS1-IN-13	Inhibitor	/	否
HY-145046	SOS1-IN-3	Inhibitor	/	否
HY-159888	SON38	Inhibitor	/	否
HY-161654	PROTAC SOS1 degrader-10	Degrader	/	否
HY-168514	SOS1/EGFR-IN-2	Inhibitor	/	否
HY-RS13566	SON Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-161655	SOS1 Ligand intermediate-5		/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SON	VGNC	VGNC:35128
Mus musculus	SON	MGD	MGI:98353
Macaca mulatta	SON	VGNC	VGNC:77689
Felis catus	SON	VGNC	VGNC:65568
Rattus norvegicus	SON	RGD	RGD:1309013
Others	SON	NCBI

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