SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000541 
UniProt Accession
Theoretical PI
6.67  
Molecular Weight
40748 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
SEPT12 
Gene Synonyms/Alias
 
Protein Name
Septin-12 
Protein Synonyms/Alias
 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:16;4827615-4838522;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
SEPTIN12 might play a critical role in human spermatogenesis. 
The information of related literatures
1. H. Miyakawa, T. Miyamoto, E. Koh, A. Tsujimura, Y. Miyagawa, Y. Saijo, M. Namiki and K. Sengoku (2011) Single-Nucleotide Polymorphisms in the SEPTIN12 Gene May Be a Genetic Risk Factor for Japanese Patients with Sertoli Cell-Only Syndrome. J Androl (): . 

Abstract
Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, ten novel genes involved in human spermatogenesis, including human SEPTIN12, were identified by expression microarray analysis of human testicular tissue. Septin12 is a member of the septin family of conserved cytoskeletal GTPases that form heteropolymeric filamentous structures in interphase cells. It is expressed specifically in the testis. Therefore, we hypothesized that mutation or polymorphisms of the SEPTIN12 participate in male infertility, especially Sertoli cell-only syndrome (SCOS). To investigate whether SEPTIN12 gene defects are associated with azoospermia caused by SCOS, mutational analysis was performed in 100 Japanese patients by direct sequencing of coding regions. Statistical analysis was performed in patients with SCOS and in 140 healthy control men. No mutations were found in SEPTIN12; however, eight coding single-nucleotide polymorphisms (SNP1-SNP8) could be detected in the patients with SCOS. The genotype and allele frequencies in SNP3, SNP4 and SNP6 were notably higher in the SCOS group than in the control group (P < 0.001). These results suggest that SEPTIN12 might play a critical role in human spermatogenesis. PMID: [21636737] 

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Figures for illustrating the function of this protein/gene
Function
Filament-forming cytoskeletal GTPase (By similarity).May play a role in cytokinesis (Potential). 
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Subcellular Location
Cytoplasm. Cytoplasm, cytoskeleton.Cytoplasm, cytoskeleton, spindle. Cell projection, cilium,flagellum. Note=At interphase, forms a filamentous structure inthe cytoplasm. During anaphase, translocates to the centralspindle region and to the midbody during cytokinesis. Found in thesperm annulus. 
Tissue Specificity
Widely expressed. 
Gene Ontology
GO IDGO termEvidence
GO:0005929 C:cilium IEA:UniProtKB-KW.
GO:0032154 C:cleavage furrow ISS:UniProtKB.
GO:0030496 C:midbody IDA:UniProtKB.
GO:0048471 C:perinuclear region of cytoplasm IDA:UniProtKB.
GO:0031105 C:septin complex ISS:UniProtKB.
GO:0097227 C:sperm annulus IDA:UniProtKB.
GO:0005819 C:spindle IDA:UniProtKB.
GO:0001725 C:stress fiber ISS:UniProtKB.
GO:0019003 F:GDP binding ISS:UniProtKB.
GO:0005525 F:GTP binding IDA:UniProtKB.
GO:0035091 F:phosphatidylinositol binding ISS:UniProtKB.
GO:0007049 P:cell cycle IEA:UniProtKB-KW.
GO:0051301 P:cell division IEA:UniProtKB-KW.
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Interpro
IPR000038;    Cell_div_GTP-bd.
IPR016491;    Septin.
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Pfam
PF00735;    Septin;    1.
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SMART
PROSITE
PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    358       Septin-12.
                             /FTId=PRO_0000312860.
NP_BIND      56     63       GTP (By similarity).
NP_BIND     195    203       GTP (By similarity).
BINDING      89     89       GTP (By similarity).
BINDING     115    115       GTP; via amide nitrogen (By similarity).
BINDING     251    251       GTP; via amide nitrogen and carbonyl
                             oxygen (By similarity).
BINDING     266    266       GTP (By similarity).
VAR_SEQ     125    170       Missing (in isoform 2).
                             /FTId=VSP_029918.
VARIANT      89     89       T -> M (probable disease-associated
                             mutation found in a patient with
                             asthenoteratozoospermia; results in
                             significantly reduced GTP hydrolysis).
                             /FTId=VAR_068097.
VARIANT     197    197       D -> N (probable disease-associated
                             mutation found in a patient with
                             oligoasthenozoospermia; results in
                             significantly reduced GTP hydrolysis due
                             to impaired GTP binding).
                             /FTId=VAR_068098.
VARIANT     213    213       Q -> R (in dbSNP:rs6500633).
                             /FTId=VAR_057176.
MUTAGEN      56     56       G->N: Abolishes binding to GTP and to
                             SEPT11, and also abolishes the ability of
                             SEPT12 to form filamentous structures.
CONFLICT     22     22       P -> T (in Ref. 6; AAH24017).
CONFLICT    258    258       V -> M (in Ref. 4; BAB71681).
CONFLICT    280    280       H -> L (in Ref. 6; AAH24017).
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Nucleotide Sequence
Length: bp   Go to nucleotide: FASTA
Protein Sequence
Length: 358 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
SEPT6IntAct 
Other Protein-Protein interaction resources
String database  
View Microarray data
Temporarily unavailable 
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