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SEPTIN4 - septin 4 Gene

Also Known as H5; ARTS; MART; SEP4; CE5B3; SEPT4; PNUTL2; hucep-7; BRADEION; C17orf47; hCDCREL-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5414

About SEPTIN4

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,520,256-58,544,328 (from NCBI)

This gene has 33 transcripts (splice variants) and 60 orthologues. Biased expression in brain (RPKM 37.9), adrenal (RPKM 26.6) and 11 other tissues.

Summary

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in Apoptosis and Cancer. [provided by RefSeq, Nov 2010]

SEPTIN4 Products (10)

mRNA	Protein	Name
NM_001038704.4	NP_001033793.3	septin-4 isoform 13
NM_001198713.2	NP_001185642.1	septin-4 isoform 4
NM_001256782.2	NP_001243711.1	septin-4 isoform 5
NM_001256822.2	NP_001243751.1	septin-4 isoform 6
NM_001363803.2	NP_001350732.1	septin-4 isoform 7
NM_001368771.2	NP_001355700.1	septin-4 isoform 11
NM_001368772.2	NP_001355701.1	septin-4 isoform 12
NM_004574.5	NP_004565.1	septin-4 isoform 1
NM_080415.4	NP_536340.1	septin-4 isoform 2
NM_080416.4	NP_536341.1	septin-4 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTP binding	IMP IMP: Inferred from mutant phenotype	17105210	GOA
enables GTPase activity	IMP IMP: Inferred from mutant phenotype	17105210	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17105210	GOA
enables magnesium ion binding	IMP IMP: Inferred from mutant phenotype	17105210	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17685441	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	21185211	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	21185211	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	21185211	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in dopaminergic synapse	IDA IDA: Inferred from direct assay	17296554	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	21695558	GOA
is active in presynapse	IDA IDA: Inferred from direct assay	17296554	GOA
part of septin complex	IDA IDA: Inferred from direct assay	25588830	GOA
part of septin complex	IMP IMP: Inferred from mutant phenotype	17105210	GOA
located in sperm annulus	IDA IDA: Inferred from direct assay	25588830	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

SEPTIN4 Protein Structure

Septin

0
100
200
300
400
478 a.a.

Protein Preferred Names	Protein Names
septin-4	CE5B3 beta

Related Diseases

Diseases	Alias
American Histoplasmosis	Infection By Histoplasma Capsulatum
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
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12683	SEPTIN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21254	Septin4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27771	Septin4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SEPTIN4	VGNC	VGNC:55818
Mus musculus	SEPTIN4	MGD	MGI:1270156
Rattus norvegicus	SEPTIN4	RGD	RGD:1308781
Bos taurus	SEPTIN4	VGNC	VGNC:34456
Others	SEPTIN4	NCBI