SEPTIN9 - septin 9 Gene

中文名称：隔膜蛋白 9

种属: Homo sapiens

同用名: MSF; MSF1; NAPB; SEPT9; SINT1; PNUTL4; SeptD1; AF17q25

基因 ID: 10801 | 基因类型: protein coding

关于 SEPTIN9

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:77,281,499-77,500,596 (from NCBI)

This gene has 48 transcripts (splice variants), 1 gene allele, 281 orthologues, 12 paralogues and is associated with 73 phenotypes. Ubiquitous expression in spleen (RPKM 19.8), lymph node (RPKM 19.8) and 25 other tissues.

功能概要

该基因是参与胞质分裂和细胞周期控制的 septin 家族成员。该基因是卵巢肿瘤抑制基因的候选基因。该基因的突变会导致遗传性神经痛性肌萎缩症，也称为易发于肱动脉的神经炎。涉及 17 号染色体上的该基因和 11 号染色体上的 MLL 基因的染色体易位导致急性骨髓单核细胞白血病。已经描述了编码不同同种型的多个可变剪接转录变体。[RefSeq 提供，2009 年 3 月]

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]

SEPTIN9 基因产物(11)

mRNA	Protein	Name
NM_001113491.2	NP_001106963.1	septin-9 isoform a
NM_001113492.2	NP_001106964.1	septin-9 isoform e
NM_001113493.2	NP_001106965.1	septin-9 isoform b
NM_001113494.1	NP_001106966.1	septin-9 isoform e
NM_001113495.2	NP_001106967.2	septin-9 isoform f
NM_001113496.2	NP_001106968.1	septin-9 isoform f
NM_001293695.2	NP_001280624.1	septin-9 isoform g
NM_001293696.2	NP_001280625.1	septin-9 isoform h
NM_001293697.2	NP_001280626.1	septin-9 isoform f
NM_001293698.2	NP_001280627.1	septin-9 isoform f
NM_006640.5	NP_006631.2	septin-9 isoform c

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 protein binding	IPI IPI: 通过物理相互作用推断	15485874	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of non-motile cilium assembly	IMP IMP: 通过突变表型推断	23572511	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in axoneme	IDA IDA: 通过直接分析推断	23572511	GOA
located in microtubule	IDA IDA: 通过直接分析推断	15485874	GOA
located in non-motile cilium	IDA IDA: 通过直接分析推断	23572511	GOA
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	15485874	GOA
part of septin complex	IDA IDA: 通过直接分析推断	15485874	GOA
located in stress fiber	IDA IDA: 通过直接分析推断	15485874	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

SEPTIN9 蛋白结构

Septin

0
100
200
300
400
500
586 a.a.

蛋白主名

其他名称

septin-9

MLL septin-like fusion protein MSF-A

SEPTIN9 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	SEPTIN9	Q9UHD8	SEPTIN7	Homo sapiens	Q16181	Anti Tag CoIP	35271311
种属内	SEPTIN9	Q9UHD8	SEPTIN7	Homo sapiens	Q16181	Anti Bait CoIP	19145258
种属内	SEPTIN9	Q9UHD8	SEPTIN7	Homo sapiens	Q16181	Y2H	19145258
种属内	SEPTIN9	Q9UHD8	SEPTIN2	Homo sapiens	Q15019	Anti Bait CoIP	19145258
种属内	SEPTIN9	Q9UHD8	SEPTIN2	Homo sapiens	Q15019	Y2H	19145258
种属内	SEPTIN9	Q9UHD8	SEPTIN2	Homo sapiens	Q15019	Anti Tag CoIP	35271311
种属内	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Anti Tag CoIP	35271311
种属内	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Y2H Prey Pooling	25416956
种属内	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Y2H	19145258
种属内	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Validated Y2H	25416956
种属内	SEPTIN9	Q9UHD8	SEPTIN11	Homo sapiens	Q9NVA2	Anti Tag CoIP	35271311
种属内	SEPTIN9	Q9UHD8	SEPTIN11	Homo sapiens	Q9NVA2	Anti Bait CoIP	19145258
种属内	SEPTIN9	Q9UHD8	SEPTIN11	Homo sapiens	Q9NVA2	Y2H	19145258

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

Amyotrophy, Hereditary Neuralgic

Hereditary Neuralgic Amyotrophy	Neuritis With Brachial Predilection
HNA	Napb
Brachial Plexus Neuropathy, Hereditary	Hereditary Brachial Plexus Neuropathy
Amyotrophy, Hereditary Neuralgic, With Predilection For Brachial Plexus	Brachial Neuralgia
Brachial Plexus Neuritis	Neuralgic Amyotrophy
Amyotrophic Neuralgia	Brachial Neuritis
Familial Brachial Plexus Neuritis	Heredofamilial Neuritis With Brachial Plexus Predilection
Shoulder Girdle Neuropathy	Hereditary Neuralgic Amyotrophy With Predilection For Brachial Plexus
Amyotrophy, Neuralgic, Hereditary	Acute Brachial Neuritis

Amyotrophic Neuralgia

Neuralgic Amyotrophy	Brachial Plexus Neuritis
Neuralgic Shoulder Amyotrophy	Acute Brachial Plexus Neuritis
Immune Brachial Plexus Neuropathy	Mononeuritis Multiplex With Brachial Predilection
Parsonage-Turner Syndrome

Acute Megakaryocytic Leukemia

Acute Megakaryoblastic Leukemia	Acute Megakaryoblastic Leukaemia
Megakaryocytic Myelosis	Thrombocytic Leukaemia
Amkl	Aml M7
Acute Myeloblastic Leukemia Type 7	Acute Myeloid Leukemia M7
Megakaryoblastic Leukemia Acute	Leukemia, Megakaryoblastic, Acute
Acute Myeloid Leukaemia, M7	Acute Megakaryocytic Leukaemia
Acute Megakaryoblastic Leukaemia, Fab M7	Fab M7
Malignant Megakaryocytosis	M7 - Acute Megakaryoblastic Leukaemia
Megakaryoblastic Leukaemia	Megakaryocytic Leukaemia
Acute Megakaryoblastic Leukaemia, Nos	Acute Megakaryoblastic Leukaemia Without Mention Of Remission

Brachial Plexus Neuropathy

Brachial Plexopathy	Brachial Plexus Neuropathies
Brachial Plexus Disorder	Bpn - [Brachial Plexus Neuropathy]
Brachial Plexus Disease	Neuropathic Plexus Brachialis
Brachial Plexus Syndrome	Brachial Plexus Irritation
Brachial Plexus Lesion	Brachial Plexus Pressure
Compression Of Brachial Plexus

Brachial Plexus Neuritis

Brachial Neuritis

Parsonage-Aldren-Turner Syndrome

Acute Myelomonocytic Leukemia

Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16	16)(P13
Q22)	Aml M4
Ammol	Acute Myeloblastic Leukemia Type 4
Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16	16)(P13
Q22)	Aml-M4
Aml With Inv(16)(P13.1q22) Or T(16	16)(P13.1
Q22)	Cbfb-Myh11
Leukemia Myelomonocytic Acute	Leukemia, Myelomonocytic, Acute
Acute Myelomonocytic Leukaemia Without Mention Of Remission	Myelomonocytic Leukaemia Nos

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Neuritis

Peripheral Neuritis

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Plexopathy

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Thoracic Outlet Syndrome

Tos	Tos - Thoracic Outlet Syndrome
Thoracic Outlet Syndromes	Thoracic Outlet Compression Syndrome

Villous Adenoma

Adenoma Villous

Adenoma, Villous

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 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-RS12685	SEPTIN9 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	SEPTIN9	VGNC	VGNC:34459
Mus musculus	SEPTIN9	MGD	MGI:1858222
Macaca mulatta	SEPTIN9	VGNC	VGNC:99253
Canis familiaris	SEPTIN9	VGNC	VGNC:106609
Felis catus	SEPTIN9	VGNC	VGNC:99448
Rattus norvegicus	SEPTIN9	RGD	RGD:708523

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SEPTIN9 - septin 9 Gene

关于 SEPTIN9

功能概要

SEPTIN9 基因产物(11)

SEPTIN9 蛋白结构

SEPTIN9 蛋白互作信息

关联疾病

直系同源

热门区域

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SEPTIN9 - septin 9 Gene

关于 SEPTIN9

功能概要

SEPTIN9 基因产物(11)

SEPTIN9 蛋白结构

SEPTIN9 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z