SEPTIN9 - septin 9 Gene

Also Known as MSF; MSF1; NAPB; SEPT9; SINT1; PNUTL4; SeptD1; AF17q25

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10801

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15485874	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	23572511	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axoneme	IDA IDA: Inferred from direct assay	23572511	GOA
located in microtubule	IDA IDA: Inferred from direct assay	15485874	GOA
located in non-motile cilium	IDA IDA: Inferred from direct assay	23572511	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15485874	GOA
part of septin complex	IDA IDA: Inferred from direct assay	15485874	GOA
located in stress fiber	IDA IDA: Inferred from direct assay	15485874	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEPTIN9 Protein Structure

Septin

0
100
200
300
400
500
586 a.a.

Protein Preferred Names	Protein Names
septin-9	MLL septin-like fusion protein MSF-A

SEPTIN9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SEPTIN9	Q9UHD8	SEPTIN7	Homo sapiens	Q16181	Anti Tag CoIP	35271311
Intra	SEPTIN9	Q9UHD8	SEPTIN7	Homo sapiens	Q16181	Anti Bait CoIP	19145258
Intra	SEPTIN9	Q9UHD8	SEPTIN7	Homo sapiens	Q16181	Y2H	19145258
Intra	SEPTIN9	Q9UHD8	SEPTIN2	Homo sapiens	Q15019	Anti Bait CoIP	19145258
Intra	SEPTIN9	Q9UHD8	SEPTIN2	Homo sapiens	Q15019	Y2H	19145258
Intra	SEPTIN9	Q9UHD8	SEPTIN2	Homo sapiens	Q15019	Anti Tag CoIP	35271311
Intra	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Anti Tag CoIP	35271311
Intra	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Y2H Prey Pooling	25416956
Intra	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Y2H	19145258
Intra	SEPTIN9	Q9UHD8	SEPTIN6	Homo sapiens	Q14141	Validated Y2H	25416956
Intra	SEPTIN9	Q9UHD8	SEPTIN11	Homo sapiens	Q9NVA2	Anti Tag CoIP	35271311
Intra	SEPTIN9	Q9UHD8	SEPTIN11	Homo sapiens	Q9NVA2	Anti Bait CoIP	19145258
Intra	SEPTIN9	Q9UHD8	SEPTIN11	Homo sapiens	Q9NVA2	Y2H	19145258

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12685	SEPTIN9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	SEPTIN9	NCBI