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Protein

Septin-12

Gene

SEPT12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • GTP binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • phosphatidylinositol binding Source: UniProtKB
  • 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.

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:rs199696526Ensembl.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:rs371195126Ensembl.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.

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.
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

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi125863. 15 interactors.
IntActiQ8IYM1. 13 interactors.
STRINGi9606.ENSP00000268231.

Structurei

3D structure databases

ProteinModelPortaliQ8IYM1.
SMRiQ8IYM1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 317Septin-type GAdd BLAST272

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni46 – 319Interaction with SEPT71 PublicationAdd BLAST274
Regioni258 – 358Self-association (via N-terminus) to polymerize octomeric septin 12-7-6-2/4-2/4-6-7-12 filamentsAdd BLAST101

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1547. Eukaryota.
COG5019. LUCA.
GeneTreeiENSGT00880000137871.
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.
PANTHERiPTHR18884. PTHR18884. 1 hit.
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

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

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:rs199696526Ensembl.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:rs371195126Ensembl.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

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: September 27, 2017
This is version 120 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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families