KLHL9 - kelch like family member 9 Gene

中文名称：kelch 样家族成员 9

种属: Homo sapiens

基因 ID: 55958 | 基因类型: protein coding

关于 KLHL9

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:21,329,665-21,335,404 (from NCBI)

This gene has 1 transcript (splice variant), 194 orthologues, 54 paralogues and is associated with 1 phenotype.

功能概要

该基因编码的蛋白质属于含有 kelch 重复序列的家族，包含一个 N 端 BTB/POZ 结构域、一个 BACK 结构域和六个 C 端 kelch 重复序列。编码的蛋白质是与基于 cullin 3 的 E3 连接酶形成的复合物的组成部分，该连接酶在有丝分裂中发挥作用。这种蛋白质复合物是一种细胞周期调节剂，在后期纺锤体中区的组织和完整性以及胞质分裂的完成中发挥作用。该复合物是从有丝分裂染色体中去除染色体乘客蛋白 Aurora B 所必需的。[RefSeq 提供，2016 年 7 月]

This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 Ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein Aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]

KLHL9 基因产物(1)

mRNA	Protein	Name
NM_018847.4	NP_061335.1	kelch-like protein 9

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 cullin family protein binding	IPI IPI: 通过物理相互作用推断	14528312	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17543862	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: 通过直接分析推断	17543862	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein ubiquitination	IDA IDA: 通过直接分析推断	17543862	GOA
involved in regulation of cytokinesis	IMP IMP: 通过突变表型推断	17543862	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Cul3-RING ubiquitin ligase complex	IDA IDA: 通过直接分析推断	17543862	GOA
located in midbody	IDA IDA: 通过直接分析推断	19995937	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

KLHL9 蛋白结构

BTB

BACK

Kelch_1

0
100
200
300
400
500
617 a.a.

蛋白主名

其他名称

kelch-like protein 9

KLHL9 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	KLHL9	Q9P2J3	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	30190310
Intra	KLHL9	Q9P2J3	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	20554658
Intra	KLHL9	Q9P2J3	CUL3	Homo sapiens	Q13618	Anti Bait CoIP	17543862
Intra	KLHL9	Q9P2J3	AURKB	Homo sapiens	Q96GD4	Anti Bait CoIP	17543862

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

Klhl9-Related Early-Onset Distal Myopathy

Nemaline Myopathy 9

NEM9	Myopathy, Nemaline, Type 9

Fatal Infantile Hypertonic Myofibrillar Myopathy

Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement	MPD4
Williams Distal Myopathy	Distal Muscular Dystrophy 4
Distal Abd-Filaminopathy	Distal Myopathy 4
Myopathy, Distal, Type 4

Tibial Muscular Dystrophy

Tmd	Udd Myopathy
Distal Titinopathy	Finnish Tibial Muscular Dystrophy
Tardive Tibial Muscular Dystrophy	Udd Type Distal Myopathy
Udd Distal Myopathy	Udd-Markesbery Muscular Dystrophy
Distal Myopathy, Udd Type	Distal Myopathies
Tibial Muscular Dystrophy, Tardive

Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Hereditary Myopathy With Early Respiratory Failure	Hmerf
Myopathy, Proximal, With Early Respiratory Muscle Involvement	Edstrom Myopathy
Mfm-Titinopathy	MFM9
Mprm	Hereditary Inclusion Body Myopathy With Early Respiratory Failure
Hibm-Erf	Myofibrillar Myopathy-Titinopathy
Myofibrillar Myopathy With Early Respiratory Failure	Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
Myofibrillar Myopathy 9	Myofibrillar Myopathy 9 With Early Respiratory Failure
Autosomal Dominant Distal Myopathy With Early Respiratory Failure	Proximal Myopathy With Early Respiratory Muscle Involvement
Hereditary Proximal Myopathy With Early Respiratory Failure	Admerf
Edström Myopathy	Hmerf-Erf

Melanoma, Cutaneous Malignant 1

Familial Melanoma	Melanoma, Cutaneous Malignant, Susceptibility To, 1
Melanoma, Malignant	CMM1
Melanoma, Cutaneous Malignant	Cmm
Familial Atypical Mole-Malignant Melanoma Syndrome	Fammm
Melanoma, Familial	Mlm
Dysplastic Nevus Syndrome, Hereditary	Dns
B-K Mole Syndrome	Melanoma, Cutaneous Malignant, 1
Malignant Melanoma, Cutaneous	Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1
Dysplastic Nevus Syndrome	Cutaneous Melanoma
Familial Atypical Mole Melanoma Syndrome	Hereditary Melanoma

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-RS07372	KLHL9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	KLHL9	VGNC	VGNC:30671
Felis catus	KLHL9	VGNC	VGNC:82345
Mus musculus	KLHL9	MGD	MGI:2180122
Macaca mulatta	KLHL9	VGNC	VGNC:74080
Rattus norvegicus	KLHL9	RGD	RGD:1304814

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