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Protein

Septin-12

Gene

SEPT12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Filament-forming cytoskeletal GTPase (By similarity). 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 (PubMed:24213608). Forms a filamentous structure with SEPT7, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in cytokinesis (Potential).By similarityCurated2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei89GTPBy similarity1
Binding sitei115GTP; via amide nitrogenBy similarity1
Binding sitei251GTP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei266GTPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi56 – 63GTPBy similarity8
Nucleotide bindingi195 – 203GTPBy similarity9

GO - Molecular functioni

  • GDP binding Source: UniProtKB
  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • phosphatidylinositol binding Source: UniProtKB
  • protein-containing complex scaffold activity Source: GO_Central
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processCell cycle, Cell division, Differentiation, Spermatogenesis
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ8IYM1

Names & Taxonomyi

Protein namesi
Recommended name:
Septin-12
Gene namesi
Name:SEPT12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000140623.13
HGNCiHGNC:26348 SEPT12
MIMi611562 gene
neXtProtiNX_Q8IYM1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 10 (SPGF10)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614822
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06809789T → M in SPGF10; results in significantly reduced GTP hydrolysis; disrupts interaction with SEPT7, SEPT6 and SEPT2; decreases interaction with SPAG4. 3 PublicationsCorresponds to variant dbSNP:rs199696526EnsemblClinVar.1
Natural variantiVAR_068098197D → N in SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding; disrupts interaction with SEPT7, SEPT6 and SEPT2; absence of SEPT12, SEPT7, SEPT6, SEPT2 and SEPT4 from the sperm annulus; disrupts interaction with LMNB1. 3 PublicationsCorresponds to variant dbSNP:rs371195126EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi56G → N: Abolishes binding to GTP and to SEPT11, and also abolishes the ability of SEPT12 to form filamentous structures. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi124404
MalaCardsiSEPT12
MIMi614822 phenotype
OpenTargetsiENSG00000140623
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA162402916

Polymorphism and mutation databases

BioMutaiSEPT12
DMDMi74750767

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003128601 – 358Septin-12Add BLAST358

Proteomic databases

PaxDbiQ8IYM1
PeptideAtlasiQ8IYM1
PRIDEiQ8IYM1
ProteomicsDBi71202
71203 [Q8IYM1-2]

PTM databases

iPTMnetiQ8IYM1
PhosphoSitePlusiQ8IYM1

Expressioni

Tissue specificityi

Widely expressed. Expressed in lymph node.2 Publications

Developmental stagei

At the first step of spermiogenesis concentrated around the acrosome. Afterwards expressed between the edge of the acrosome and the perinuclear mantle of the manchette. Next, encircles the upper site of the acrosome and forms the rim of the sperm nucleus. With the formation of mitochondria and mature spermatozoa, localized at the neck and annulus regions.1 Publication

Gene expression databases

BgeeiENSG00000140623 Expressed in 72 organ(s), highest expression level in testis
CleanExiHS_SEPT12
ExpressionAtlasiQ8IYM1 baseline and differential
GenevisibleiQ8IYM1 HS

Organism-specific databases

HPAiHPA041128

Interactioni

Subunit structurei

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 (By similarity). Interacts with SEPT6 and SEPT11. Self-associates. Component of a septin core octomeric complex consisting of SEPT12, SEPT7, SEPT6 and SEPT2 or SEPT4 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 SEPT12 N- and C-termini; the SEPT12:SEPT7 association is mediated by the respective GTP-binding domains (PubMed:25588830). Interacts with SPAG4 and LMNB1 (PubMed:25775403). Associates with alpha- and beta-tubulins (PubMed:24213608).By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125863, 15 interactors
IntActiQ8IYM1, 14 interactors
STRINGi9606.ENSP00000268231

Structurei

3D structure databases

ProteinModelPortaliQ8IYM1
SMRiQ8IYM1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 317Septin-type GPROSITE-ProRule annotationAdd BLAST272

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni46 – 319Interaction with SEPT71 PublicationAdd BLAST274
Regioni56 – 63G1 motifPROSITE-ProRule annotation8
Regioni112 – 115G3 motifPROSITE-ProRule annotation4
Regioni194 – 197G4 motifPROSITE-ProRule annotation4
Regioni258 – 358Self-association (via N-terminus) to polymerize octomeric septin 12-7-6-2/4-2/4-6-7-12 filamentsAdd BLAST101

Sequence similaritiesi

Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1547 Eukaryota
COG5019 LUCA
GeneTreeiENSGT00910000144020
HOGENOMiHOG000233586
HOVERGENiHBG065093
InParanoidiQ8IYM1
KOiK16938
OMAiEMLGYVG
OrthoDBiEOG091G08V5
PhylomeDBiQ8IYM1
TreeFamiTF101078

Family and domain databases

CDDicd01850 CDC_Septin, 1 hit
InterProiView protein in InterPro
IPR030379 G_SEPTIN_dom
IPR027417 P-loop_NTPase
IPR016491 Septin
PfamiView protein in Pfam
PF00735 Septin, 1 hit
PIRSFiPIRSF006698 Septin, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51719 G_SEPTIN, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IYM1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDPLRRSPSP CLSSQPSSPS TPPCEMLGPV GIEAVLDQLK IKAMKMGFEF
60 70 80 90 100
NIMVVGQSGL GKSTMVNTLF KSKVWKSNPP GLGVPTPQTL QLHSLTHVIE
110 120 130 140 150
EKGVKLKLTV TDTPGFGDQI NNDNCWDPIL GYINEQYEQY LQEEILITRQ
160 170 180 190 200
RHIPDTRVHC CVYFVPPTGH CLRPLDIEFL QRLCRTVNVV PVIARADSLT
210 220 230 240 250
MEEREAFRRR IQQNLRTHCI DVYPQMCFDE DINDKILNSK LRDRIPFAVV
260 270 280 290 300
GADQEHLVNG RCVLGRKTKW GIIEVENMAH CEFPLLRDLL IRSHLQDLKD
310 320 330 340 350
ITHNIHYENY RVIRLNESHL LPRGPGWVNL APASPGQLTT PRTFKVCRGA

HDDSDDEF
Length:358
Mass (Da):40,748
Last modified:March 1, 2003 - v1
Checksum:i31968F366DEFB4FD
GO
Isoform 2 (identifier: Q8IYM1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     125-170: Missing.

Show »
Length:312
Mass (Da):35,191
Checksum:iA9C83873ABB4CBE4
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EP57K7EP57_HUMAN
Septin-12
SEPT12 FLJ25410, hCG_15171
278Annotation score:
K7ES86K7ES86_HUMAN
Septin-12
SEPT12
57Annotation score:
K7EP92K7EP92_HUMAN
Septin-12
SEPT12
64Annotation score:
K7EIJ5K7EIJ5_HUMAN
Septin-12
SEPT12
18Annotation score:

Sequence cautioni

The sequence AAH24017 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti22P → T in AAH24017 (PubMed:15489334).Curated1
Sequence conflicti258V → M in BAB71681 (PubMed:14702039).Curated1
Sequence conflicti280H → L in AAH24017 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06809789T → M in SPGF10; results in significantly reduced GTP hydrolysis; disrupts interaction with SEPT7, SEPT6 and SEPT2; decreases interaction with SPAG4. 3 PublicationsCorresponds to variant dbSNP:rs199696526EnsemblClinVar.1
Natural variantiVAR_068098197D → N in SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding; disrupts interaction with SEPT7, SEPT6 and SEPT2; absence of SEPT12, SEPT7, SEPT6, SEPT2 and SEPT4 from the sperm annulus; disrupts interaction with LMNB1. 3 PublicationsCorresponds to variant dbSNP:rs371195126EnsemblClinVar.1
Natural variantiVAR_057176213Q → R. Corresponds to variant dbSNP:rs6500633Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029918125 – 170Missing in isoform 2. 2 PublicationsAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ456996 mRNA Translation: ABE68946.1
DQ517531 mRNA Translation: ABF61438.1
EF620906 mRNA Translation: ABR10901.1
AK058139 mRNA Translation: BAB71681.1
CH471112 Genomic DNA Translation: EAW85265.1
BC024017 mRNA Translation: AAH24017.1 Different initiation.
BC035619 mRNA Translation: AAH35619.1
CCDSiCCDS10522.1 [Q8IYM1-1]
CCDS53987.1 [Q8IYM1-2]
RefSeqiNP_001147930.1, NM_001154458.2 [Q8IYM1-2]
NP_653206.2, NM_144605.4 [Q8IYM1-1]
XP_006720909.1, XM_006720846.2 [Q8IYM1-1]
UniGeneiHs.126780

Genome annotation databases

EnsembliENST00000268231; ENSP00000268231; ENSG00000140623 [Q8IYM1-1]
ENST00000396693; ENSP00000379922; ENSG00000140623 [Q8IYM1-2]
GeneIDi124404
KEGGihsa:124404
UCSCiuc002cxq.4 human [Q8IYM1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ456996 mRNA Translation: ABE68946.1
DQ517531 mRNA Translation: ABF61438.1
EF620906 mRNA Translation: ABR10901.1
AK058139 mRNA Translation: BAB71681.1
CH471112 Genomic DNA Translation: EAW85265.1
BC024017 mRNA Translation: AAH24017.1 Different initiation.
BC035619 mRNA Translation: AAH35619.1
CCDSiCCDS10522.1 [Q8IYM1-1]
CCDS53987.1 [Q8IYM1-2]
RefSeqiNP_001147930.1, NM_001154458.2 [Q8IYM1-2]
NP_653206.2, NM_144605.4 [Q8IYM1-1]
XP_006720909.1, XM_006720846.2 [Q8IYM1-1]
UniGeneiHs.126780

3D structure databases

ProteinModelPortaliQ8IYM1
SMRiQ8IYM1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125863, 15 interactors
IntActiQ8IYM1, 14 interactors
STRINGi9606.ENSP00000268231

PTM databases

iPTMnetiQ8IYM1
PhosphoSitePlusiQ8IYM1

Polymorphism and mutation databases

BioMutaiSEPT12
DMDMi74750767

Proteomic databases

PaxDbiQ8IYM1
PeptideAtlasiQ8IYM1
PRIDEiQ8IYM1
ProteomicsDBi71202
71203 [Q8IYM1-2]

Protocols and materials databases

DNASUi124404
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268231; ENSP00000268231; ENSG00000140623 [Q8IYM1-1]
ENST00000396693; ENSP00000379922; ENSG00000140623 [Q8IYM1-2]
GeneIDi124404
KEGGihsa:124404
UCSCiuc002cxq.4 human [Q8IYM1-1]

Organism-specific databases

CTDi124404
DisGeNETi124404
EuPathDBiHostDB:ENSG00000140623.13
GeneCardsiSEPT12
HGNCiHGNC:26348 SEPT12
HPAiHPA041128
MalaCardsiSEPT12
MIMi611562 gene
614822 phenotype
neXtProtiNX_Q8IYM1
OpenTargetsiENSG00000140623
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA162402916
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1547 Eukaryota
COG5019 LUCA
GeneTreeiENSGT00910000144020
HOGENOMiHOG000233586
HOVERGENiHBG065093
InParanoidiQ8IYM1
KOiK16938
OMAiEMLGYVG
OrthoDBiEOG091G08V5
PhylomeDBiQ8IYM1
TreeFamiTF101078

Enzyme and pathway databases

SIGNORiQ8IYM1

Miscellaneous databases

GenomeRNAii124404
PROiPR:Q8IYM1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140623 Expressed in 72 organ(s), highest expression level in testis
CleanExiHS_SEPT12
ExpressionAtlasiQ8IYM1 baseline and differential
GenevisibleiQ8IYM1 HS

Family and domain databases

CDDicd01850 CDC_Septin, 1 hit
InterProiView protein in InterPro
IPR030379 G_SEPTIN_dom
IPR027417 P-loop_NTPase
IPR016491 Septin
PfamiView protein in Pfam
PF00735 Septin, 1 hit
PIRSFiPIRSF006698 Septin, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51719 G_SEPTIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSEP12_HUMAN
AccessioniPrimary (citable) accession number: Q8IYM1
Secondary accession number(s): Q0P6B0, Q1PBH0, Q96LL0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 128 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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