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FLASH GENE

Symbol

SEPTIN5

contributors: mct/ - updated : 28-08-2019

HGNC name	septin 5
HGNC id	9164

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002688 12 polyA site 2090 NP_002679 42.7 369 - 2004 15214843 also called PNUTL1 variant 1 NM_001009939 11 polyA site 2256 NP_001009939 - 346 brain, platelets 2004 15214843 also called PNUTL1 variant 2

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner       Homo sapiens Nervous brain limbic system hippocampus   predominantly Homo sapiens Fetal   brain       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Muscular striatum cardiac     Nervous central     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Hearing / Equilibrium cochlea cell Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

life cycle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a P-loop nucleotide binding
	GTPase motif

HOMOLOGY

interspecies	homolog to Drosophila melanogaster peanut-like gene 1
	homolog to murine Sept5
	homolog to C.elegans w09c5.2

intraspecies

homolog to PNUTL2

Homologene

FAMILY	septin family
	GTP binding protein/GTPase family

CATEGORY

regulatory , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,granule
	intracellular,cytoplasm,cytoskeleton,microtubule
text	localized surrounding alpha-granules

basic FUNCTION	involved in myeloid leukemogenesis
	regulating cytoskeletal organization and cytokinesis
	may be playing a functional role in platelet granular secretion
	playing a role in the development of proliferative retinal membranes
	SEPT3 and SEPT5 are dispensable for neuronal development as well as for synaptic vesicle fusion and recycling
	SEPTIN5 has been known for some time as a developmentally down-regulated "inhibitor" of tight coupling, while UNC13C was found only recently to function as a developmentally up-regulated mediator of tight coupling

CELLULAR PROCESS	cell cycle, division
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	cell shape and cell size control; cytoskeletal organization

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP binding

protein	binding to SEPT8
	SEPTIN3 directly binds to SEPTIN5 and SEPTIN7 and forms a heteromeric complex at nerve terminals adjacent to where a synaptic vesicle marker, synaptophysin, is expressed in mature neurons
	interacting with KIDINS220
	interaction partner of SEPT11

cell & other

REGULATION

Other

degradated by PARK2

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in DiGeorge syndrome and velocardiofacial syndromes tumoral fusion       fused with HRX (MLL)with t(11;22)(q23;q11.2)in adulte myeloid leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

both Sept4 and Sept5 null mice had similar auditory functions to their wild type littermates