Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 136 (18 Sep 2019)
Sequence version 1 (01 Mar 2003)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Septin-12

Gene

SEPTIN12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 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 (PubMed:25588830). May play a role in cytokinesis (Potential).By similarityCurated2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi56 – 63GTPBy similarity8
Nucleotide bindingi195 – 203GTPBy similarity9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IYM1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Septin-12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SEPTIN12Imported
Synonyms:SEPT12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26348 SEPTIN12

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611562 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IYM1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06809789T → M in SPGF10; results in significantly reduced GTP hydrolysis; disrupts interaction with SEPTIN7, SEPTIN6 and SEPTIN2; 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 SEPTIN7, SEPTIN6 and SEPTIN2; absence of SEPTIN12, SEPTIN7, SEPTIN6, SEPTIN2 and SEPTIN4 from the sperm annulus; disrupts interaction with LMNB1. 3 PublicationsCorresponds to variant dbSNP:rs371195126EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi56G → N: Abolishes binding to GTP and to SEPTIN11, and also abolishes the ability of SEPTIN12 to form filamentous structures. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
124404

MalaCards human disease database

More...
MalaCardsi
SEPTIN12
MIMi614822 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000140623

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
276234 Non-syndromic male infertility due to sperm motility disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162402916

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SEPT12

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74750767

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003128601 – 358Septin-12Add BLAST358

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IYM1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IYM1

PeptideAtlas

More...
PeptideAtlasi
Q8IYM1

PRoteomics IDEntifications database

More...
PRIDEi
Q8IYM1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71202 [Q8IYM1-1]
71203 [Q8IYM1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IYM1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IYM1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expressed in lymph node.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000140623 Expressed in 72 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IYM1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IYM1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041128

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 SEPTIN6 and SEPTIN11. Self-associates.

Component of a septin core 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 respective GTP-binding domains (PubMed:25588830).

Interacts with SPAG4 and LMNB1 (PubMed:25775403). Associates with alpha- and beta-tubulins (PubMed:24213608).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125863, 15 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IYM1, 20 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000268231

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IYM1

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini46 – 317Septin-type GPROSITE-ProRule annotationAdd BLAST272

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni46 – 319Interaction with SEPTIN71 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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1547 Eukaryota
COG5019 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158310

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000233586

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IYM1

KEGG Orthology (KO)

More...
KOi
K16938

Identification of Orthologs from Complete Genome Data

More...
OMAi
EMLGYVG

Database of Orthologous Groups

More...
OrthoDBi
845354at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IYM1

TreeFam database of animal gene trees

More...
TreeFami
TF101078

Family and domain databases

Conserved Domains Database

More...
CDDi
cd01850 CDC_Septin, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR030379 G_SEPTIN_dom
IPR027417 P-loop_NTPase
IPR016491 Septin

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00735 Septin, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF006698 Septin, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51719 G_SEPTIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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
SEPTIN12 FLJ25410, hCG_15171
278Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ES86K7ES86_HUMAN
Septin-12
SEPTIN12
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EP92K7EP92_HUMAN
Septin-12
SEPTIN12
64Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EIJ5K7EIJ5_HUMAN
Septin-12
SEPTIN12
18Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 SEPTIN7, SEPTIN6 and SEPTIN2; 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 SEPTIN7, SEPTIN6 and SEPTIN2; absence of SEPTIN12, SEPTIN7, SEPTIN6, SEPTIN2 and SEPTIN4 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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_029918125 – 170Missing in isoform 2. 2 PublicationsAdd BLAST46

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10522.1 [Q8IYM1-1]
CCDS53987.1 [Q8IYM1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001147930.1, NM_001154458.2 [Q8IYM1-2]
NP_653206.2, NM_144605.4 [Q8IYM1-1]
XP_006720909.1, XM_006720846.2 [Q8IYM1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000268231; ENSP00000268231; ENSG00000140623 [Q8IYM1-1]
ENST00000396693; ENSP00000379922; ENSG00000140623 [Q8IYM1-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
124404

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:124404

UCSC genome browser

More...
UCSCi
uc002cxq.4 human [Q8IYM1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ8IYM1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi125863, 15 interactors
IntActiQ8IYM1, 20 interactors
STRINGi9606.ENSP00000268231

PTM databases

iPTMnetiQ8IYM1
PhosphoSitePlusiQ8IYM1

Polymorphism and mutation databases

BioMutaiSEPT12
DMDMi74750767

Proteomic databases

MassIVEiQ8IYM1
PaxDbiQ8IYM1
PeptideAtlasiQ8IYM1
PRIDEiQ8IYM1
ProteomicsDBi71202 [Q8IYM1-1]
71203 [Q8IYM1-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
124404
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

Comparative Toxicogenomics Database

More...
CTDi
124404
DisGeNETi124404

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SEPTIN12
HGNCiHGNC:26348 SEPTIN12
HPAiHPA041128
MalaCardsiSEPTIN12
MIMi611562 gene
614822 phenotype
neXtProtiNX_Q8IYM1
OpenTargetsiENSG00000140623
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA162402916

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1547 Eukaryota
COG5019 LUCA
GeneTreeiENSGT00940000158310
HOGENOMiHOG000233586
InParanoidiQ8IYM1
KOiK16938
OMAiEMLGYVG
OrthoDBi845354at2759
PhylomeDBiQ8IYM1
TreeFamiTF101078

Enzyme and pathway databases

SIGNORiQ8IYM1

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
124404

Pharos

More...
Pharosi
Q8IYM1

Protein Ontology

More...
PROi
PR:Q8IYM1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000140623 Expressed in 72 organ(s), highest expression level in testis
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSEP12_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IYM1
Secondary accession number(s): Q0P6B0, Q1PBH0, Q96LL0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2003
Last modified: September 18, 2019
This is version 136 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again