SEPTIN12
entrez
124404
canonical
uniprot
Q8IYM1
canonical
ensembl
ENSG00000140623
resolver
ensp
ENSP00000268231
resolver
ensp
ENSP00000379922
resolver
genesymbol
SEPTIN12
resolver
genesymbol_syn
SEPT12
resolver
hgnc
HGNC:26348
resolver
uniprot
A0A140VJU2
resolver
uniprot
Q0P6B0
resolver
uniprot
Q1PBH0
resolver
uniprot
Q96LL0
resolver
uniprot_entry
A0A140VJU2_HUMAN
resolver
uniprot_entry
SEP12_HUMAN
resolver
uniprot_sec
Q0P6B0
resolver
uniprot_sec
Q1PBH0
resolver
uniprot_sec
Q96LL0
resolver
amino_acid_sequence
MDPLRRSPSPCLSSQPSSPSTPPCEMLGPVGIEAVLDQLKIKAMKMGFEFNIMVVGQSGLGKSTMVNTLFKSKVWKSNPPGLGVPTPQTLQLHSLTHVIEEKGVKLKLTVTDTPGFGDQINNDNCWDPILGYINEQYEQYLQEEILITRQRHIPDTRVHCCVYFVPPTGHCLRPLDIEFLQRLCRTVNVVPVIARADSLTMEEREAFRRRIQQNLRTHCIDVYPQMCFDEDINDKILNSKLRDRIPFAVVGADQEHLVNGRCVLGRKTKWGIIEVENMAHCEFPLLRDLLIRSHLQDLKDITHNIHYENYRVIRLNESHLLPRGPGWVNLAPASPGQLTTPRTFKVCRGAHDDSDDEF
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 10 (SPGF10) [MIM:614822]: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. {ECO:0000269|PubMed:21636737, ECO:0000269|PubMed:22116646, ECO:0000269|PubMed:22275165, ECO:0000269|PubMed:25588830, ECO:0000269|PubMed:25775403, ECO:0000269|PubMed:30488758, ECO:0000269|PubMed:35547809}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Facilitates the formation of Septin filament structures with SEPTIN7, SEPTIN6, SEPTIN2 and SEPTIN4 at the sperm annulus (PubMed:25588830, PubMed:28346465). Correct formation of the annulus is required for development of normal structural morphology and motility of the sperm during steps 13 to 16 of spermiogenesis (PubMed:25588830). Essential component of the LMNB1/SUN5/SEPT12 bridge that connects the sperm proximal centriole to the implantation fossa, the bridge functions to prevent detachment of the proximal centriole from the posterior nucleus during steps 13 to 16 of spermiogenesis (PubMed:38870534). Required for PLCZ1 localization at the sperm acrosome during spermiogenesis (By similarity). May also play a role in the initiation of calcium oscillations in embryos (By similarity). {ECO:0000250|UniProtKB:A0A2R8VJU7, ECO:0000250|UniProtKB:Q9NVA2, ECO:0000269|PubMed:24213608, ECO:0000269|PubMed:25588830, ECO:0000269|PubMed:28346465, ECO:0000269|PubMed:38870534}.
uniprot
proteins
mass_dalton
40748
uniprot
proteins
mutagenesis
MUTAGEN 56; /note="G->N: Abolishes binding to GTP and to SEPTIN11, and also abolishes the ability of SEPTIN12 to form filamentous structures."; /evidence="ECO:0000269|PubMed:18443421"; MUTAGEN 198; /note="S->A: Abolishes phosphorylation by PRKACA. No effect on the formation of Septin filaments and interaction with SEPT7."; /evidence="ECO:0000269|PubMed:28346465"; MUTAGEN 198; /note="S->D: Abolishes the formation of Septin filaments and interaction with SEPT7. No effect on heterooligomer formation or cellular localization."; /evidence="ECO:0000269|PubMed:28346465"; MUTAGEN 198; /note="S->E: Abolishes the formation of Septin filaments and interaction with SEPT7. No effect on heterooligomer formation or cellular localization."; /evidence="ECO:0000269|PubMed:28346465
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-198; by PRKACA; results in inhibition of Septin ring formation and as a result annulus formation during spermiogenesis. {ECO:0000250|UniProtKB:A0A2R8VJU7}.
uniprot
proteins
protein_family
Septin GTPase family
uniprot
proteins
protein_family
TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15915442
uniprot
proteins
pubmed
17685441
uniprot
proteins
pubmed
17967425
uniprot
proteins
pubmed
18047794
uniprot
proteins
pubmed
18443421
uniprot
proteins
pubmed
20801438
uniprot
proteins
pubmed
21636737
uniprot
proteins
pubmed
22116646
uniprot
proteins
pubmed
22275165
uniprot
proteins
pubmed
24213608
uniprot
proteins
pubmed
25588830
uniprot
proteins
pubmed
25775403
uniprot
proteins
pubmed
28346465
uniprot
proteins
pubmed
30189608
uniprot
proteins
pubmed
30488758
uniprot
proteins
pubmed
35547809
uniprot
proteins
pubmed
38870534
uniprot
proteins
sequence_length
358
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18047794}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18047794}. Nucleus {ECO:0000269|PubMed:25775403}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:22275165}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:A0A2R8VJU7}. Note=At interphase, forms a filamentous structure in the cytoplasm. During anaphase, translocates to the central spindle region and to the midbody during cytokinesis. Colocalized with SPAG4 at the nuclear periphery in round spermatids. During sperm head formation in elongating spermatids, expressed at the acrosome, perinuclear mantle of the manchette structure and the sperm neck (By similarity). Expressed at mitochondrial materials in elongating spermatids (By similarity). Expressed in mature sperm at the annulus, neck and tail (By similarity). Expressed at the midpiece in ejaculated mature sperm (By similarity). {ECO:0000250|UniProtKB:A0A2R8VJU7, ECO:0000269|PubMed:18047794, ECO:0000269|PubMed:20801438, ECO:0000269|PubMed:22275165, ECO:0000269|PubMed:25775403}.
uniprot
proteins