KHDRBS1 - KH RNA binding domain containing, signal transduction associated 1 Gene

中文名称：含 KH RNA 结合域，信号转导相关 1

种属: Homo sapiens

同用名: p62; p68; Sam68

基因 ID: 10657 | 基因类型: protein coding

关于 KHDRBS1

Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:32,013,868-32,060,850 (from NCBI)

This gene has 4 transcripts (splice variants), 288 orthologues and 4 paralogues. Ubiquitous expression in ovary (RPKM 44.4), endometrium (RPKM 41.0) and 25 other tissues.

功能概要

该基因编码包含 K 同源结构域、RNA 结合、信号转导相关蛋白家族的成员。编码的蛋白质似乎具有许多功能，并可能参与多种细胞过程，包括选择性剪接、细胞周期调节、RNA 3'-末端形成、肿瘤发生和人类免疫缺陷病毒基因表达的调节。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 12 月]

This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

KHDRBS1 基因产物(2)

mRNA	Protein	Name
NM_001271878.2	NP_001258807.1	KH domain-containing, RNA-binding, signal transduction-associated protein 1 isoform 2
NM_006559.3	NP_006550.1	KH domain-containing, RNA-binding, signal transduction-associated 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 RNA binding	EXP EXP: 通过实验结果推断	36537190	GOA
enables RNA binding	IDA IDA: 通过直接分析推断	1374686	GOA
enables SH2 domain binding	IDA IDA: 通过直接分析推断	9045636	GOA
enables SH3 domain binding	IDA IDA: 通过直接分析推断	9045636	GOA
enables identical protein binding	IDA IDA: 通过直接分析推断	10332027	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	20186123	GOA
enables molecular function inhibitor activity	EXP EXP: 通过实验结果推断	36537190	GOA
enables poly(A) binding	IDA IDA: 通过直接分析推断	21984414	GOA
enables poly(U) RNA binding	IDA IDA: 通过直接分析推断	21984414	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	7537265	GOA
enables protein domain specific binding	IPI IPI: 通过物理相互作用推断	10749975	GOA
enables protein tyrosine kinase binding	IPI IPI: 通过物理相互作用推断	9045636	GOA
enables signaling adaptor activity	IDA IDA: 通过直接分析推断	9045636	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in T cell receptor signaling pathway	IDA IDA: 通过直接分析推断	9045636	GOA
involved in positive regulation of RNA export from nucleus	IDA IDA: 通过直接分析推断	21613532	GOA
involved in positive regulation of translational initiation	IDA IDA: 通过直接分析推断	21613532	GOA
involved in regulation of RNA splicing	IMP IMP: 通过突变表型推断	36537190	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: 通过直接分析推断	24514149	GOA
involved in regulation of apoptotic process	IMP IMP: 通过突变表型推断	36537190	GOA
involved in regulation of cell cycle	IMP IMP: 通过突变表型推断	36537190	GOA
NOT involved in regulation of protein stability	IDA IDA: 通过直接分析推断	21613532	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	29496907	GOA
located in membrane	IDA IDA: 通过直接分析推断	1374686	GOA
located in nucleus	IDA IDA: 通过直接分析推断	1374686	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	10332027	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

KHDRBS1 蛋白结构

KH_1

0
100
200
300
400
443 a.a.

蛋白主名

其他名称

KH domain-containing, RNA-binding, signal transduction-associated protein 1

GAP-associated tyrosine phosphoprotein p62 (Sam68)

KHDRBS1 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	KHDRBS1	Q07666	LCK	Homo sapiens	P06239	Anti Bait CoIP	16888650
Intra	KHDRBS1	Q07666	LCK	Homo sapiens	P06239	CoIP	9045636
Intra	KHDRBS1	Q07666	LCK	Homo sapiens	P06239	Pull Down	11278465
Intra	KHDRBS1	Q07666	LCK	Homo sapiens	P06239	Pull Down	16107303
Intra	KHDRBS1	Q07666	FYN	Homo sapiens	P06241	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	HNRNPA1	Homo sapiens	P09651	Anti Tag CoIP	24514149
Intra	KHDRBS1	Q07666	HNRNPA1	Homo sapiens	P09651	Pull Down	20186123
Intra	KHDRBS1	Q07666	GRB2	Homo sapiens	P62993	CoIP	9045636
Intra	KHDRBS1	Q07666	HNRNPA1	Homo sapiens	P09651	Anti Tag CoIP	20186123
Intra	KHDRBS1	Q07666	FYN	Homo sapiens	P06241	Y2H	22641034
Intra	KHDRBS1	Q07666	GRB2	Homo sapiens	P62993	Pull Down	11278465
Cross	KHDRBS1	Q07666	Lck	Mus musculus	P06240	Pull Down	9045636
Intra	KHDRBS1	Q07666	ZBTB7A	Homo sapiens	O95365	Pull Down	24514149
Intra	KHDRBS1	Q07666	ZBTB7A	Homo sapiens	O95365	Y2H	24514149
Intra	KHDRBS1	Q07666	ZBTB7A	Homo sapiens	O95365	Anti Tag CoIP	24514149
Intra	KHDRBS1	Q07666	ZBTB7A	Homo sapiens	O95365	Anti Bait CoIP	24514149
Intra	KHDRBS1	Q07666	HNRNPK	Homo sapiens	P61978	Y2H	21988832
Intra	KHDRBS1	Q07666	HNRNPK	Homo sapiens	P61978	Y2H	22365833
Intra	KHDRBS1	Q07666	HNRNPK	Homo sapiens	P61978	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	HCK	Homo sapiens	P08631	Pull Down	12029088
Intra	KHDRBS1	Q07666	HCK	Homo sapiens	P08631	Pull Down	11278465
Intra	KHDRBS1	Q07666	FYN	Homo sapiens	P06241	Pull Down	9045636
Intra	KHDRBS1	Q07666	JAK3	Homo sapiens	P52333	CoIP	9045636
Intra	KHDRBS1	Q07666	STAT3	Homo sapiens	P40763	CoIP	11585385
Intra	KHDRBS1	Q07666	SRC	Homo sapiens	P12931	Pull Down	7537265
Intra	KHDRBS1	Q07666	SMARCA2	Homo sapiens	P51531	Anti Bait CoIP	16341228
Intra	KHDRBS1	Q07666	SMARCA2	Homo sapiens	P51531	Pull Down	16341228
Intra	KHDRBS1	Q07666	KHDRBS3	Homo sapiens	O75525	Anti Tag CoIP	33961781
Intra	KHDRBS1	Q07666	KHDRBS3	Homo sapiens	O75525	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	APC	Homo sapiens	P25054	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	KHDRBS2	Homo sapiens	Q5VWX1	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	RBMX	Homo sapiens	P38159	Y2H Array	21988832
Intra	KHDRBS1	Q07666	RBMX	Homo sapiens	P38159	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	PLCG1	Homo sapiens	P19174	Y2H Fragment Pooling	31413325
Intra	KHDRBS1	Q07666	PLCG1	Homo sapiens	P19174	CoIP	9045636
Cross	KHDRBS1	Q07666	PIK3R1	Bos taurus	P23727	Pull Down	7537265

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

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

X-Linked Hereditary Ataxia

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Mouth Disease

Mouth Diseases

Mouth Disorders

Premature Ovarian Failure 1

Ovarian Failure, Premature	Fmr1-Related Primary Ovarian Insufficiency
Fragile X-Associated Primary Ovarian Insufficiency	POF1
Pofx	Hypergonadotropic Ovarian Failure, X-Linked
Pof	Primary Ovarian Insufficiency, Fragile X-Associated
Primary Ovarian Insufficiency 1	Ovarian Failure Premature
Premature Ovarian Failure, X-Linked	Fragile X Premature Ovarian Failure
Fmr1-Related Premature Ovarian Failure	Familial Premature Ovarian Failure
Idiopathic Familial Premature Ovarian Failure	Fxpoi
X-Linked Hypergonadotropic Ovarian Failure	Hypergonadotropic Ovarian Failure X-Linked
Poi	Premature Ovarian Failure X-Linked
Primary Ovarian Insufficiency	Premature Ovarian Failure-1
Ovarian Failure, Premature, Type 1	Premature Ovarian Failure, Familial
Premature Menopause	Primary Hypogonadism
Turner Syndrome

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Spinal Muscular Atrophy, Type Ii

SMA2	Sma Ii
Muscular Atrophy, Spinal, Intermediate Type	Muscular Atrophy, Spinal, Infantile Chronic Form
Intermediate Spinal Muscular Atrophy	Spinal Muscular Atrophy Type Ii
Spinal Muscular Atrophy-2	Spinal Muscular Atrophy 2
Spinal Muscular Atrophy Type 2	Dubowitz Disease
Proximal Spinal Muscular Atrophy Type 2	Sma Type 2
Sma Type Ii	Sma-Ii
Spinal Muscular Atrophy Infantile Chronic Form	Spinal Muscular Atrophy Intermediate Type
Spinal Muscular Atrophies Of Childhood	Atrophy, Muscular, Spinal, Type Ii
Muscular Atrophy, Spinal, Type Ii

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

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-RS07237	KHDRBS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	KHDRBS1	VGNC	VGNC:73848
Mus musculus	KHDRBS1	MGD	MGI:893579
Canis familiaris	KHDRBS1	VGNC	VGNC:42335
Felis catus	KHDRBS1	VGNC	VGNC:63078
Rattus norvegicus	KHDRBS1	RGD	RGD:621459
Bos taurus	KHDRBS1	VGNC	VGNC:30540

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