SEPTIN1 - septin 1 Gene

Homo sapiens

Also known as LARP; SEP1; DIFF6; SEPT1; PNUTL3

Gene ID: 1731 | Gene type: protein coding

About SEPTIN1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,378,135-30,382,815 (from NCBI)

This gene has 11 transcripts (splice variants), 104 orthologues and 12 paralogues. Biased expression in lymph node (RPKM 27.2), spleen (RPKM 18.3) and 9 other tissues.

Summary

This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]

SEPTIN1 Products(2)

mRNA	Protein	Name
NM_001365977.2	NP_001352906.1	septin-1
NM_052838.6	NP_443070.6	septin-1

SEPTIN1 Protein Structure

Septin

0
100
200
300
414 a.a.

Protein Preferred Names

Protein Names

septin-1

differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)

Related Diseases

Diseases

Alias

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

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

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12681	SEPTIN1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SEPTIN1	VGNC	VGNC:34449
Macaca mulatta	SEPTIN1	VGNC	VGNC:77323
Felis catus	SEPTIN1	VGNC	VGNC:65008
Mus musculus	SEPTIN1	MGD	MGI:1858916
Rattus norvegicus	SEPTIN1	RGD	RGD:1307216
Canis familiaris	SEPTIN1	VGNC	VGNC:46010

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