SEPT1 septin 1 [Homo sapiens] - Gene

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Summary

Official Symbol: SEPT1provided by HGNC
Official Full Name: septin 1provided by HGNC
Primary source: HGNC:2879
See related: Ensembl:ENSG00000180096; HPRD:15324; MIM:612897; Vega:OTTHUMG00000176984
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; PNUTL3; MGC20394
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. [provided by RefSeq, Dec 2010]

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Genomic context

Location :: 16p11.1

Sequence :: Chromosome: 16; NC_000016.9 (30389456..30394171, complement)

See SEPT1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

An increase in Sept1 expression in all oral squamous-cell carcinoma-derived cell lines compared to human normal oral keratinocytes and oral premalignant lesions suggest that Sept1 expression could contribute to cancer progression, proliferation, or both.
Title: Overexpression of Septin1: possible contribution to the development of oral cancer.
Aurora-B binds and phosphorylates Septin1.
Title: Septin1, a new interaction partner for human serine/threonine kinase aurora-B.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q8WYJ6	Q96GD4	AURKB	HPRD	PubMed
Q8WYJ6	Q8WYJ6	SEPT1	HPRD	PubMed
Q8WYJ6	Q14141	SEPT6	HPRD	PubMed
Q8WYJ6	Q9H0E2	TOLLIP	HPRD	PubMed
BioGRID:108075	BioGRID:111822	RAD21	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108075	BioGRID:108075	SEPT1	BioGRID	PubMed	Two-hybrid
BioGRID:108075	BioGRID:116770	SEPT6	BioGRID	PubMed	Two-hybrid
BioGRID:108075	BioGRID:119978	TOLLIP	BioGRID	PubMed	Two-hybrid
BioGRID:108075	BioGRID:113164	UBC	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
GTP binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info
cell division	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
microtubule organizing center	IEA Inferred from Electronic Annotation more info
septin complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: septin-1

Names: septin-1; peanut-like protein 3; serologically defined breast cancer antigen NY-BR-24; differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)

NP_443070.1

EC 3.1.5.1

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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)

NM_052838.4 → NP_443070.2 septin-1

Status: REVIEWED

Source sequence(s)

AY034176, BC012161, BM663465, BQ072902

Consensus CDS

CCDS10678.1

UniProtKB/Swiss-Prot

Q8WYJ6

Related

ENSP00000460441, ENST00000571393

Conserved Domains (2) summary

pfam00735
Location:27 – 308
Blast Score: 1142

Septin; Septin

cd01850
Location:27 – 302
Blast Score: 1068

CDC_Septin; CDC/Septin GTPase family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

30389456..30394171, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

27951220..27955945, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC116348.3 (138612..142935)	None
genomic	AC127457.3 (85998..86389)	None
genomic	AF308288.1	AAG48256.1
genomic	CH471192.1	EAW52252.1
		EAW52253.1
mRNA	AF085235.1	AAL40393.1
mRNA	AK301045.1	BAG62658.1
mRNA	AK303390.1	BAG64446.1
mRNA	AL833004.1	CAH56484.1
mRNA	AY034176.1	AAK61491.1
mRNA	BC012161.1	AAH12161.1
mRNA	BM663465.1	None
mRNA	BQ072902.1	None