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SEPTIN1 septin 1 [ Homo sapiens (human) ]

Gene ID: 1731, updated on 5-Apr-2019

Summary

Official Symbol
SEPTIN1provided by HGNC
Official Full Name
septin 1provided by HGNC
Primary source
HGNC:HGNC:2879
See related
Ensembl:ENSG00000180096 MIM:612897
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LARP; SEP1; DIFF6; SEPT1; PNUTL3
Summary
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
Expression
Biased expression in lymph node (RPKM 27.2), spleen (RPKM 18.3) and 9 other tissues See more
Orthologs

Genomic context

See SEPTIN1 in Genome Data Viewer
Location:
16p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (30378133..30382850, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30389454..30394171, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928707 Neighboring gene TBC1 domain family member 10B Neighboring gene myosin light chain, phosphorylatable, fast skeletal muscle Neighboring gene zinc finger protein 48 Neighboring gene zinc finger protein 771 Neighboring gene small nucleolar RNA, H/ACA box 80C

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20394

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 
identical protein binding IPI
Inferred from Physical Interaction
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
cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
septin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
septin ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
septin-1
Names
differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)
peanut-like protein 3
serologically defined breast cancer antigen NY-BR-24
NP_001352906.1
NP_443070.6
XP_016878480.1

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_001365977.1NP_001352906.1  septin-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents transcription from an alternate promoter, relative to variant 2, and has a shorter 5' UTR than variant 2.
    Source sequence(s)
    BC012161, BM663465, BQ072902
    Conserved Domains (1) summary
    pfam00735
    Location:28301
    Septin
  2. NM_052838.5NP_443070.6  septin-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript.
    Source sequence(s)
    BC012161, BM663465, BQ072902
    Consensus CDS
    CCDS10678.3
    Related
    ENSP00000324511.4, ENST00000321367.7
    Conserved Domains (1) summary
    pfam00735
    Location:28301
    Septin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    30378133..30382850 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022991.1XP_016878480.1  septin-1 isoform X1

RNA

  1. XR_001751850.1 RNA Sequence

  2. XR_002957782.1 RNA Sequence

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