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SEPTIN11 septin 11 [ Homo sapiens (human) ]

Gene ID: 55752, updated on 7-Jun-2020

Summary

Official Symbol
SEPTIN11provided by HGNC
Official Full Name
septin 11provided by HGNC
Primary source
HGNC:HGNC:25589
See related
Ensembl:ENSG00000138758 MIM:612887
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
Also known as
SEPT11
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 SEPTIN11 in Genome Data Viewer
Location:
4q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (76949752..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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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

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 
molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synapse organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cell division site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 complex IDA
Inferred from Direct Assay
more info
PubMed 
septin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
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_001306147.2NP_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, CX870938, DA413789, DA497699, DA803364
    Consensus CDS
    CCDS77931.1
    UniProtKB/Swiss-Prot
    Q9NVA2
    Related
    ENSP00000422896.1, ENST00000510515.5
    Conserved Domains (1) summary
    cd01850
    Location:48316
    CDC_Septin; CDC/Septin GTPase family
  2. NM_018243.4NP_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
    Consensus CDS
    CCDS34018.1
    UniProtKB/Swiss-Prot
    Q9NVA2
    Related
    ENSP00000264893.6, ENST00000264893.10
    Conserved Domains (1) summary
    cd01850
    Location:38306
    CDC_Septin; CDC/Septin GTPase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    76949752..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, ENST00000505788.5
    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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