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Aliases for SEPT14 Gene

Aliases for SEPT14 Gene

  • Septin 14 2 3 5

External Ids for SEPT14 Gene

Previous GeneCards Identifiers for SEPT14 Gene

  • GC07M055829
  • GC07M055675
  • GC07M055862

Summaries for SEPT14 Gene

Entrez Gene Summary for SEPT14 Gene

  • SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]

GeneCards Summary for SEPT14 Gene

SEPT14 (Septin 14) is a Protein Coding gene. Diseases associated with SEPT14 include Giant Cell Glioblastoma and Gliosarcoma. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT6.

UniProtKB/Swiss-Prot for SEPT14 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT14 Gene

Genomics for SEPT14 Gene

Regulatory Elements for SEPT14 Gene


Genomic Location for SEPT14 Gene

Chromosome:
7
Start:
55,793,544 bp from pter
End:
55,862,789 bp from pter
Size:
69,246 bases
Orientation:
Minus strand

Genomic View for SEPT14 Gene

Genes around SEPT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT14 Gene

Proteins for SEPT14 Gene

  • Protein details for SEPT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZU15-SEP14_HUMAN
    Recommended name:
    Septin-14
    Protein Accession:
    Q6ZU15
    Secondary Accessions:
    • A6NCC2
    • B4DXD6

    Protein attributes for SEPT14 Gene

    Size:
    432 amino acids
    Molecular mass:
    50025 Da
    Quaternary structure:
    • 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 SEPT9.
    SequenceCaution:
    • Sequence=BAC86412.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SEPT14 Gene

Proteomics data for SEPT14 Gene at MOPED

Post-translational modifications for SEPT14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEPT14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEPT14 Gene

Domains & Families for SEPT14 Gene

Gene Families for SEPT14 Gene

Protein Domains for SEPT14 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6ZU15

UniProtKB/Swiss-Prot:

SEP14_HUMAN :
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPT14: view

No data available for Suggested Antigen Peptide Sequences for SEPT14 Gene

Function for SEPT14 Gene

Molecular function for SEPT14 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).

Gene Ontology (GO) - Molecular Function for SEPT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17922164
genes like me logo Genes that share ontologies with SEPT14: view
genes like me logo Genes that share phenotypes with SEPT14: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPT14 Gene

Localization for SEPT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT14 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with actin stress fibers.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPT14 Gene COMPARTMENTS Subcellular localization image for SEPT14 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for SEPT14 Gene

Pathways & Interactions for SEPT14 Gene

SuperPathways for SEPT14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEPT14 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SEPT14 Gene

Drugs & Compounds for SEPT14 Gene

No Compound Related Data Available

Transcripts for SEPT14 Gene

mRNA/cDNA for SEPT14 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SEPT14 Gene

Septin 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT14 Gene

No ASD Table

Relevant External Links for SEPT14 Gene

GeneLoc Exon Structure for
SEPT14
ECgene alternative splicing isoforms for
SEPT14

Expression for SEPT14 Gene

mRNA expression in normal human tissues for SEPT14 Gene

mRNA differential expression in normal tissues according to GTEx for SEPT14 Gene

This gene is overexpressed in Testis (x47.1) and Pituitary (x5.2).

Protein differential expression in normal tissues from HIPED for SEPT14 Gene

This gene is overexpressed in Testis (46.2) and Ovary (18.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEPT14 Gene



SOURCE GeneReport for Unigene cluster for SEPT14 Gene Hs.453629

mRNA Expression by UniProt/SwissProt for SEPT14 Gene

Q6ZU15-SEP14_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expression patterns with SEPT14: view

Protein tissue co-expression partners for SEPT14 Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SEPT14 Gene

Orthologs for SEPT14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT14 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT14 35
  • 84.26 (n)
  • 78.47 (a)
SEPT14 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT14 35
  • 86.27 (n)
  • 82.18 (a)
SEPT14 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept14 35
  • 78.87 (n)
  • 77.62 (a)
Sept14 16
Sept14 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPT14 35
  • 99.15 (n)
  • 99.31 (a)
SEPT14 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept14 35
  • 79.02 (n)
  • 79.27 (a)
oppossum
(Monodelphis domestica)
Mammalia SEPT14 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sep2 36
  • 59 (a)
OneToMany
Sep5 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-61 36
  • 34 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 36
  • 31 (a)
OneToMany
Species with no ortholog for SEPT14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SEPT14 Gene

ENSEMBL:
Gene Tree for SEPT14 (if available)
TreeFam:
Gene Tree for SEPT14 (if available)

Paralogs for SEPT14 Gene

Paralogs for SEPT14 Gene

(16) SIMAP similar genes for SEPT14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SEPT14: view

Variants for SEPT14 Gene

Sequence variations from dbSNP and Humsavar for SEPT14 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1113765 -- 55,821,641(+) tccag(A/G)gttaa intron-variant
rs6953229 -- 55,848,505(+) ttgct(C/T)gggct intron-variant
rs6958506 -- 55,831,481(+) aagac(A/G)tatta intron-variant
rs6959238 -- 55,849,915(+) AAACT(G/T)GAAAA intron-variant
rs6959347 -- 55,794,682(+) TCAGC(A/G)CTCTG downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SEPT14 Gene

Variant ID Type Subtype PubMed ID
esv2734425 CNV Deletion 23290073
esv28230 CNV Gain+Loss 19812545
nsv888063 CNV Gain 21882294
esv2734447 CNV Deletion 23290073
dgv1201e199 CNV Deletion 23128226
nsv469612 CNV Complex 16826518
nsv510959 CNV Complex 20534489
nsv888064 CNV Gain 21882294
esv2734448 CNV Deletion 23290073
esv2734449 CNV Deletion 23290073

Variation tolerance for SEPT14 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SEPT14 Gene

Disorders for SEPT14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPT14 Gene - From: Orphanet

Disorder Aliases PubMed IDs
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
gliosarcoma
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEPT14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT14
genes like me logo Genes that share disorders with SEPT14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT14 Gene

Publications for SEPT14 Gene

  1. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PMID: 17922164) Peterson E.A. … Petty E.M. (Mamm. Genome 2007) 3 4 67
  2. Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. (PMID: 24939585) Fransen E. … Friedman R.A. (Eur. J. Hum. Genet. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for SEPT14 Gene

Sources for SEPT14 Gene

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