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Septin-12

 SEP12_RAT               Reviewed;         356 AA.
Q4V8G5;
04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
04-DEC-2007, sequence version 2.
02-JUN-2021, entry version 103.
RecName: Full=Septin-12;
Name=Septin12 {ECO:0000250|UniProtKB:Q8IYM1};
Synonyms=Sept12 {ECO:0000312|RGD:1565511};
Rattus norvegicus (Rat).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
Murinae; Rattus.
NCBI_TaxID=10116;
[1]
NUCLEOTIDE SEQUENCE [MRNA], HOMODIMERIZATION, TISSUE SPECIFICITY,
DEVELOPMENTAL STAGE, AND MUTAGENESIS OF SER-61.
PubMed=17685441; DOI=10.1002/cm.20224;
Steels J.D., Estey M.P., Froese C.D., Reynaud D., Pace-Asciak C.,
Trimble W.S.;
"Sept12 is a component of the mammalian sperm tail annulus.";
Cell Motil. Cytoskeleton 64:794-807(2007).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May
play a role in cytokinesis (Potential). Involved in spermatogenesis.
Involved in the morphogenesis of sperm heads and the elongation of
sperm tails probably implicating the association with alpha- and beta-
tubulins. Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2
and probably SEPTIN4 at the sperm annulus which is required for the
structural integrity and motility of the sperm tail during postmeiotic
differentiation (By similarity). {ECO:0000250,
ECO:0000250|UniProtKB:Q8IYM1, ECO:0000250|UniProtKB:Q9D451,
ECO:0000305}.
-!- SUBUNIT: Septins polymerize into heterooligomeric protein complexes
that form filaments, and can associate with cellular membranes, actin
filaments and microtubules. GTPase activity is required for filament
formation. Interacts with SEPTIN6 and SEPTIN11. Self-associates.
Component of a octomeric complex consisting of SEPTIN12, SEPTIN7,
SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-
6-4-4-6-7-12 and located in the sperm annulus; the octomer polymerizes
into filaments via the SEPTIN12 N- and C-termini; the SEPTIN12:SEPTIN7
association is mediated by the GTP-binding domains. Interacts with
SPAG4 and LMNB1. Associates with alpha- and beta-tubulins (By
similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q8IYM1}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton
{ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Cell
projection, cilium, flagellum {ECO:0000250|UniProtKB:Q8IYM1,
ECO:0000250|UniProtKB:Q9D451, ECO:0000269|PubMed:17685441}. Note=At
interphase, forms a filamentous structure in the cytoplasm. During
anaphase, translocates to the central spindle region and to the midbody
during cytokinesis (By similarity). Found in the sperm annulus.
{ECO:0000250, ECO:0000269|PubMed:17685441}.
-!- TISSUE SPECIFICITY: Predominantly expressed in testis and epididymis.
Component of the sperm tail annulus (at protein level).
{ECO:0000269|PubMed:17685441}.
-!- DEVELOPMENTAL STAGE: In developing testis, expression increases
steadily until sexual maturity (approximately 49 days postpartum) where
it remains expressed at a relatively constant level.
{ECO:0000269|PubMed:17685441}.
-!- SIMILARITY: Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like
GTPase superfamily. Septin GTPase family. {ECO:0000255|PROSITE-
ProRule:PRU01056}.
-!- SEQUENCE CAUTION:
Sequence=AAH97401.1; Type=Erroneous initiation; Evidence={ECO:0000305};
---------------------------------------------------------------------------
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EMBL; BC097401; AAH97401.1; ALT_INIT; mRNA.
RefSeq; NP_001094335.1; NM_001100865.1.
SMR; Q4V8G5; -.
IntAct; Q4V8G5; 1.
STRING; 10116.ENSRNOP00000057921; -.
PaxDb; Q4V8G5; -.
PRIDE; Q4V8G5; -.
Ensembl; ENSRNOT00000061208; ENSRNOP00000057921; ENSRNOG00000003137.
GeneID; 363542; -.
KEGG; rno:363542; -.
UCSC; RGD:1565511; rat.
CTD; 124404; -.
RGD; 1565511; Sept12.
eggNOG; KOG1547; Eukaryota.
GeneTree; ENSGT00940000158310; -.
HOGENOM; CLU_017718_7_1_1; -.
InParanoid; Q4V8G5; -.
OMA; CFDEDVN; -.
OrthoDB; 845354at2759; -.
PhylomeDB; Q4V8G5; -.
TreeFam; TF101078; -.
PRO; PR:Q4V8G5; -.
Proteomes; UP000002494; Chromosome 10.
Bgee; ENSRNOG00000003137; Expressed in testis and 9 other tissues.
GO; GO:0032153; C:cell division site; IBA:GO_Central.
GO; GO:0015630; C:microtubule cytoskeleton; IBA:GO_Central.
GO; GO:0030496; C:midbody; ISS:UniProtKB.
GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:UniProtKB.
GO; GO:0031105; C:septin complex; ISO:RGD.
GO; GO:0005940; C:septin ring; IBA:GO_Central.
GO; GO:0097227; C:sperm annulus; ISO:RGD.
GO; GO:0005819; C:spindle; ISS:UniProtKB.
GO; GO:0005525; F:GTP binding; ISS:UniProtKB.
GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
GO; GO:0042802; F:identical protein binding; ISO:RGD.
GO; GO:0060090; F:molecular adaptor activity; IBA:GO_Central.
GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0034613; P:cellular protein localization; IBA:GO_Central.
GO; GO:0061640; P:cytoskeleton-dependent cytokinesis; IBA:GO_Central.
GO; GO:0030317; P:flagellated sperm motility; ISO:RGD.
GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
CDD; cd01850; CDC_Septin; 1.
InterPro; IPR030379; G_SEPTIN_dom.
InterPro; IPR027417; P-loop_NTPase.
InterPro; IPR016491; Septin.
Pfam; PF00735; Septin; 1.
PIRSF; PIRSF006698; Septin; 1.
SUPFAM; SSF52540; SSF52540; 1.
PROSITE; PS51719; G_SEPTIN; 1.
1: Evidence at protein level;
Cell cycle; Cell division; Cell projection; Cilium; Cytoplasm;
Cytoskeleton; Differentiation; Flagellum; GTP-binding; Nucleotide-binding;
Reference proteome; Spermatogenesis.
CHAIN 1..356
/note="Septin-12"
/id="PRO_0000312861"
DOMAIN 44..315
/note="Septin-type G"
/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
NP_BIND 54..61
/note="GTP"
/evidence="ECO:0000250"
NP_BIND 193..201
/note="GTP"
/evidence="ECO:0000250"
REGION 1..23
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
REGION 44..317
/note="Interaction with SEPTIN7"
/evidence="ECO:0000250|UniProtKB:Q8IYM1"
REGION 54..61
/note="G1 motif"
/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
REGION 110..113
/note="G3 motif"
/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
REGION 192..195
/note="G4 motif"
/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"
REGION 256..356
/note="Self-association (via N-terminus) to polymerize
octomeric septin 12-7-6-2/4-2/4-6-7-12 filaments"
/evidence="ECO:0000250|UniProtKB:Q8IYM1"
REGION 330..356
/note="Disordered"
/evidence="ECO:0000256|SAM:MobiDB-lite"
COMPBIAS 342..356
/note="Basic and acidic residues"
/evidence="ECO:0000256|SAM:MobiDB-lite"
BINDING 87
/note="GTP"
/evidence="ECO:0000250"
BINDING 113
/note="GTP; via amide nitrogen"
/evidence="ECO:0000250"
BINDING 249
/note="GTP; via amide nitrogen and carbonyl oxygen"
/evidence="ECO:0000250"
BINDING 264
/note="GTP"
/evidence="ECO:0000250"
MUTAGEN 61
/note="S->N: Abolishes homodimerization."
/evidence="ECO:0000269|PubMed:17685441"
SEQUENCE 356 AA; 40799 MW; 598F80BE45A1F451 CRC64;
MDERRTPSPC SSRPSSPRTP PCEMFGPVGI EAVLDQLRIK AMKTGFEFNI MVVGQSGLGK
STMVNTLFKS KVWQSPAPNL DVPMPQTLEL HSVTHVIEEK GLKLKLTVTD TPGFGDQINN
DKCWDPILSY INQQYEQYLQ EELLITRQRH IPDTRVHCCV YFVPPTGHCL RPLDIEFLRR
LCRTVNVVPV IARADSLTIE ERDAFRSRIQ QNLKNHCIDV YPQQCFDEDI NDRLLNSKIR
EQIPFAVVGA DREHIVNGRC VLGRKTKWGI IEVENMAHCE FLLLRDLLIR SHLQDLKDIT
HNVHYENYRV LRLNESHVLP RGPGWVNLAP ASPGQLMAPG PEKVRKRSKD PRDDEC


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WP104: Alanine and aspartate metabolism
WP1354: B Cell Receptor Signaling Pathway
WP444: Signaling of Hepatocyte Growth Factor Receptor
WP240: Alanine and aspartate metabolism
WP465: Tryptophan metabolism
WP2085: miRNAs involved in DDR
WP1337: MAPK signaling pathway
WP426: Urea cycle and metabolism of amino groups
WP1367: TGF-beta Receptor Signaling Pathway
WP1345: T Cell Receptor Signaling Pathway
WP1386: Integrin-mediated cell adhesion
WP2359: Parkin-Ubiquitin Proteasomal System pathway
WP270: Tryptophan metabolism
WP1545: miRNAs involved in DDR
WP2233: Immune responses in the epidermis
WP153: Urea cycle and metabolism of amino groups
WP1323: EGFR1 Signaling Pathway
WP1315: IL-5 Signaling Pathway
WP1359: IL-3 Signaling Pathway
WP106: Alanine and aspartate metabolism
WP1126: Tryptophan metabolism
WP1530: miRNA regulation of DNA Damage Response
WP2087: miRNA regulation of DNA Damage Response
WP79: Tryptophan metabolism
WP497: Urea cycle and metabolism of amino groups

Related Genes :
[SEPTIN12 SEPT12] Septin-12
[CDC12 CLA10 PSL7 YHR107C] Cell division control protein 12 (Septin)
[Septin12 Sept12] Septin-12
[spn6 SPCC188.12 SPCC584.09] Septin homolog spn6
[SEPTIN9 KIAA0991 MSF SEPT9] Septin-9 (MLL septin-like fusion protein MSF-A) (MLL septin-like fusion protein) (Ovarian/Breast septin) (Ov/Br septin) (Septin D1)
[Septin9 Sept9] Septin-9 (Eighth septin) (Eseptin) (Septin-like protein) (SLP)
[SEPTIN7 CDC10 SEPT7] Septin-7 (CDC10 protein homolog)
[SEPTIN6 KIAA0128 SEP2 SEPT6] Septin-6
[SEPTIN2 DIFF6 KIAA0158 NEDD5 SEPT2] Septin-2 (Neural precursor cell expressed developmentally down-regulated protein 5) (NEDD-5)
[Septin7 Cdc10 Sept7] Septin-7 (CDC10 protein homolog)
[Septin7 Cdc10 Sept7] Septin-7 (CDC10 protein homolog)
[Septin6 Kiaa0128 Sept6] Septin-6
[Septin2 Sept2 Vesp11] Septin-2 (Vascular endothelial cell specific protein 11)
[Septin2 Nedd5 Sept2] Septin-2 (Neural precursor cell expressed developmentally down-regulated protein 5) (NEDD-5)
[SEPTIN2 SEPT2] Septin-2
[SEPTIN5 PNUTL1 SEPT5] Septin-5 (Cell division control-related protein 1) (CDCrel-1) (Peanut-like protein 1)
[SEPTIN4 ARTS C17orf47 PNUTL2 SEP4 SEPT4 hucep-7] Septin-4 (Apoptosis-related protein in the TGF-beta signaling pathway) (ARTS) (Bradeion beta) (Brain protein H5) (CE5B3 beta) (Cell division control-related protein 2) (hCDCREL-2) (Cerebral protein 7) (Peanut-like protein 2)
[Septin4 Pnutl2 Sept4] Septin-4 (Brain protein H5) (Peanut-like protein 2)
[SEPTIN11 SEPT11] Septin-11
[SEPTIN1 DIFF6 PNUTL3 SEPT1] Septin-1 (LARP) (Peanut-like protein 3) (Serologically defined breast cancer antigen NY-BR-24)
[SEPTIN8 KIAA0202 SEPT8] Septin-8
[Septin8 Sept8] Septin-8
[Septin5 Pnutl1 Sept5] Septin-5 (Cell division control-related protein 1) (CDCrel-1) (Peanut-like protein 1)
[Septin3 Sept3] Neuronal-specific septin-3 (G-septin) (P40)
[SEPTIN7 CDC10 SEPT7] Septin-7 (CDC10 protein homolog)
[Septin5 Pnutl1 Sept5] Septin-5 (Cell division control-related protein 1) (CDCrel-1) (Peanut-like protein 1)
[Septin11 Sept11] Septin-11
[Septin9 Kiaa0991 Sept9 Sint1] Septin-9 (SL3-3 integration site 1 protein)
[Septin8 Kiaa0202 Sept8] Septin-8
[Septin11 D5Ertd606e Sept11] Septin-11

Bibliography :
[30488758] Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.
[22275165] SEPT12 mutations cause male infertility with defective sperm annulus.
[20801438] SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos.