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SEPT11 septin 11 [ Homo sapiens (human) ]

Gene ID: 55752, updated on 4-Nov-2018

Summary

Official Symbol
SEPT11provided by HGNC
Official Full Name
septin 11provided by HGNC
Primary source
HGNC:HGNC:25589
See related
Ensembl:ENSG00000138758 MIM:612887; Vega:OTTHUMG00000160854
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]
Expression
Ubiquitous expression in placenta (RPKM 24.6), fat (RPKM 23.3) and 25 other tissues See more
Orthologs

Genomic context

See SEPT11 in Genome Data Viewer
Location:
4q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (76949714..77040154)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77870895..77961307)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986291 Neighboring gene uncharacterized LOC105377294 Neighboring gene sosondowah ankyrin repeat domain family member B Neighboring gene uncharacterized LOC105377291 Neighboring gene thioredoxin pseudogene 6 Neighboring gene uncharacterized LOC107986290 Neighboring gene cyclin I Neighboring gene ribosomal protein L7 pseudogene 17

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
NHGRI GWA Catalog

Pathways from BioSystems

  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
septin ring assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic specialization of symmetric synapse IEA
Inferred from Electronic Annotation
more info
 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin filament array IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
septin-11
Names
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001306147.1NP_001293076.1  septin-11 isoform 1

    See identical proteins and their annotated locations for NP_001293076.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK027633, AK302700, BC008083, BC063615, CA422047, CR997215, CX870938, DA413789, DA497699, DA803364
    Consensus CDS
    CCDS77931.1
    UniProtKB/Swiss-Prot
    Q9NVA2
    Related
    ENSP00000422896.1, OTTHUMP00000219162, ENST00000510515.5, OTTHUMT00000362679
    Conserved Domains (1) summary
    cd01850
    Location:48316
    CDC_Septin; CDC/Septin GTPase family
  2. NM_018243.3NP_060713.1  septin-11 isoform 2

    See identical proteins and their annotated locations for NP_060713.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 5' coding region that results in use of an alternate start codon compared to variant 1. It encodes isoform 2, which has a novel N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI580485, AI741944, AK001711, AK027633, AK124592, BC008083, BQ021538, BQ221260, CA394082, CR997215
    Consensus CDS
    CCDS34018.1
    UniProtKB/Swiss-Prot
    Q9NVA2
    Related
    ENSP00000264893.6, OTTHUMP00000219160, ENST00000264893.10, OTTHUMT00000362676
    Conserved Domains (1) summary
    cd01850
    Location:38306
    CDC_Septin; CDC/Septin GTPase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    76949714..77040154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008403.1XP_016863892.1  septin-11 isoform X4

    Conserved Domains (1) summary
    cd01850
    Location:38306
    CDC_Septin; CDC/Septin GTPase family
  2. XM_017008404.1XP_016863893.1  septin-11 isoform X5

    Related
    ENSP00000424925.1, OTTHUMP00000219161, ENST00000505788.5, OTTHUMT00000362677
    Conserved Domains (1) summary
    cd01850
    Location:38306
    CDC_Septin; CDC/Septin GTPase family
  3. XM_017008401.1XP_016863890.1  septin-11 isoform X2

  4. XM_017008402.1XP_016863891.1  septin-11 isoform X3

    Conserved Domains (1) summary
    cd01850
    Location:48316
    CDC_Septin; CDC/Septin GTPase family
  5. XM_006714259.4XP_006714322.1  septin-11 isoform X6

    See identical proteins and their annotated locations for XP_006714322.1

    Conserved Domains (1) summary
    cd01850
    Location:1249
    CDC_Septin; CDC/Septin GTPase family
  6. XM_017008400.2XP_016863889.1  septin-11 isoform X1

    UniProtKB/Swiss-Prot
    Q9NVA2
    Conserved Domains (1) summary
    cd01850
    Location:48316
    CDC_Septin; CDC/Septin GTPase family
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