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FLASH GENE

Symbol

SEPTIN12

contributors: mct - updated : 09-10-2015

HGNC name	septin 12
HGNC id	26348

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16p13.3      Physical location : -
Synonym symbol(s)	FLJ25410, SPGF10, SEPT12

DNA

TYPE	functioning gene
STRUCTURE	10.73 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001154458 9 - 1223 NP_001147930 - 312 - 2005 15915442 NM_144605 10 - 1361 NP_653206 - 358 - 2005 15915442

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 Cardiovascular heart         Digestive liver         Reproductive male system testis       Homo sapiens Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune dendritic cell Reproductive spermatozoa Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a conserved GTP-binding motif at its N-terminus

HOMOLOGY

interspecies

homolog to murine Sept12 (87.4 pc)

Homologene

FAMILY

septin family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,nucleoplasm,nuclear bodies
text	in mature human spermatozoa, SEPT12 and NDC1 are majorly colocalized in the centrosome regions; however, NDC1 is only slightly co-expressed with SEPT12 at the annulus of the sperm tail

basic FUNCTION	may be involved in mammalian fertility
	filament-forming GTP-binding protein involved in a variety of cellular process such as cytokinesis, exocytosis, and membrane dynamics
	polymerizing GTP-binding protein required for many cellular functions, such as membrane compartmentalization, vesicular trafficking, mitosis, and cytoskeletal remodeling
	its expression levels are critical for mammalian spermiogenesis
	vital roles in sperm head shaping, nuclear DNA condensation, and early embryonic development
	testis-specific gene critical for the terminal differentiation of male germ cells
	vital roles of SEPT12 in sperm nuclear integrity and tail development
	SEPTIN12-microtubule complexes are critical for sperm formation during spermiogenesis
	is likely vital for the formation of sperm morphological characteristics during spermiogenesis

CELLULAR PROCESS	cell cycle

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

SEPT12-NDC1 complexes are involved in mammalian spermiogenesis

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein	interacting with SEPT11 (GTP-binding by SEPT12 is required for interaction with SEPT11 but not with itself)
	can interact with SEPT6, interaction independent of the coiled coil domain of SEPT6, and that may affect the septin filament structure

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the testicular tissues of men with either hypospermatogenesis or maturation arrest constitutional germinal mutation     loss of function loss-of-function mutations in SEPT12 disrupted sperm structural integrity by perturbing septin filament formation constitutional germinal mutation       in oligozoospermia or teratozoospermia or both

Susceptibility

to to teratozoospermia

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS