SEPTIN7 - septin 7 Gene

Homo sapiens

Also known as CDC3; CDC10; SEPT7; SEPT7A; NBLA02942

Gene ID: 989 | Gene type: protein coding

About SEPTIN7

Cytogenetic location: 7p14.2 Genomic coordinates (GRCh38): 7:35,800,986-35,915,763 (from NCBI)

This gene has 19 transcripts (splice variants), 236 orthologues and 12 paralogues. Ubiquitous expression in brain (RPKM 77.8), lymph node (RPKM 34.7) and 24 other tissues.

Summary

This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]

SEPTIN7 Products(5)

mRNA	Protein	Name
NM_001011553.4	NP_001011553.2	septin-7 isoform 2
NM_001242956.1	NP_001229885.1	septin-7 isoform 3
NM_001363715.2	NP_001350644.1	septin-7 isoform 4
NM_001375299.1	NP_001362228.1	septin-7 isoform 4
NM_001788.6	NP_001779.3	septin-7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22064074	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11584266	GOA

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

Cellular Component GO Annotation	Evidence	Reference	Source
located in axoneme	IDA IDA: Inferred from direct assay	23572511	GOA
located in non-motile cilium	IDA IDA: Inferred from direct assay	23572511	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15485874	GOA
part of septin complex	IDA IDA: Inferred from direct assay	15485874	GOA
located in sperm annulus	IDA IDA: Inferred from direct assay	25588830	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

SEPTIN7 Protein Structure

Septin

0
100
200
300
400
436 a.a.

Protein Preferred Names

Protein Names

septin-7

CDC10 (cell division cycle 10, S. cerevisiae, homolog)

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

Epidural Spinal Canal Neoplasm

Extradural Tumor	Epidural Neoplasms
Epidural Neoplasm

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly

MARCH	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome	Hydranencephaly With Renal Aplasia-Dysplasia
March Syndrome

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-RS12684	SEPTIN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SEPTIN7	VGNC	VGNC:53670
Macaca mulatta	SEPTIN7	VGNC	VGNC:81759
Felis catus	SEPTIN7	VGNC	VGNC:65014
Rattus norvegicus	SEPTIN7	RGD	RGD:620469
Mus musculus	SEPTIN7	MGD	MGI:1335094
Canis familiaris	SEPTIN7	VGNC	VGNC:46016

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