Format

Send to:

Choose Destination

SEPTIN9 septin 9 [ Homo sapiens (human) ]

Gene ID: 10801, updated on 1-Jun-2020

Summary

Official Symbol
SEPTIN9provided by HGNC
Official Full Name
septin 9provided by HGNC
Primary source
HGNC:HGNC:7323
See related
Ensembl:ENSG00000184640 MIM:604061
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
MSF; MSF1; NAPB; SEPT9; SINT1; PNUTL4; SeptD1; AF17q25
Summary
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in spleen (RPKM 19.8), lymph node (RPKM 19.8) and 25 other tissues See more
Orthologs

Genomic context

See SEPTIN9 in Genome Data Viewer
Location:
17q25.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (77281499..77500596)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (75277492..75496678)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SEC14 like lipid binding 1 Neighboring gene CYCS pseudogene 40 Neighboring gene SEPTIN9 divergent transcript Neighboring gene lung adenocarcinoma-associated transcript 1 Neighboring gene HNF4 motif-containing MPRA enhancer 212 Neighboring gene uncharacterized LOC112268199 Neighboring gene microRNA 4316 Neighboring gene uncharacterized LOC112268198 Neighboring gene uncharacterized LOC105371903 Neighboring gene uncharacterized LOC400622 Neighboring gene uncharacterized LOC100507351

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

Associated conditions

Description Tests
Amyotrophy, hereditary neuralgic Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of behavioral disinhibition.
NHGRI GWA Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
NHGRI GWA Catalog
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat FITC-labeled Tat 47-59 peptide upregulates gene expression of septin 9 (SEPT9) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ75490, KIAA0991

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 
cadherin binding HDA 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 
positive regulation of non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cell division site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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-9
Names
MLL septin-like fusion protein MSF-A
Ov/Br septin
ovarian/breast septin
septin D1

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.

Genomic

  1. NG_011683.1 RefSeqGene

    Range
    43106..224187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001113491.2NP_001106963.1  septin-9 isoform a

    See identical proteins and their annotated locations for NP_001106963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as epsilon) encodes the longest isoform (a).
    Source sequence(s)
    AC068594, AC111170, AC111182
    Consensus CDS
    CCDS45790.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000391249.1, ENST00000427177.6
    Conserved Domains (2) summary
    cd01850
    Location:295569
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:277583
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  2. NM_001113492.1NP_001106964.1  septin-9 isoform e

    See identical proteins and their annotated locations for NP_001106964.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as zeta or v4*) lacks the first 5' exon, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (e) has a shorter N-terminus, as compared to isoform a.
    Source sequence(s)
    AA523782, AK290368, BC064642, BQ279153, DB007851
    Consensus CDS
    CCDS45793.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000400181.2, ENST00000449803.6
    Conserved Domains (2) summary
    cd01850
    Location:131405
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:113419
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  3. NM_001113493.2NP_001106965.1  septin-9 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as gamma) lacks two 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (b) has a shorter and different N-terminus, as compared to isoform a.
    Source sequence(s)
    AC111170, AC111182
    Consensus CDS
    CCDS45792.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000405877.1, ENST00000423034.6
    Conserved Domains (2) summary
    cd01850
    Location:288562
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:270576
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  4. NM_001113494.1NP_001106966.1  septin-9 isoform e

    See identical proteins and their annotated locations for NP_001106966.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as beta or v4) lacks two 5' exons but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (e) has a shorter N-terminus,as compared to isoform a.
    Source sequence(s)
    AA523782, AB023208, BC064642, BQ279153, DA234895, DB007851
    Consensus CDS
    CCDS45793.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000403194.1, ENST00000427674.6
    Conserved Domains (2) summary
    cd01850
    Location:131405
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:113419
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  5. NM_001113495.2NP_001106967.2  septin-9 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform f.
    Source sequence(s)
    AC111170
    Consensus CDS
    CCDS45794.1
    Related
    ENSP00000415624.1, ENST00000427180.5
  6. NM_001113496.2NP_001106968.1  septin-9 isoform f

    See identical proteins and their annotated locations for NP_001106968.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7, also known as delta) lacks three 5' exons, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (f) has a much shorter N-terminus, as compared to isoform a.
    Source sequence(s)
    AC111170
    Consensus CDS
    CCDS45795.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000438089.2, ENST00000541152.6
    Conserved Domains (2) summary
    cd01850
    Location:44318
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:26332
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  7. NM_001293695.2NP_001280624.1  septin-9 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (g) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AC068594, AC111170, AC111182
    Consensus CDS
    CCDS77122.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000468406.1, ENST00000591198.5
    Conserved Domains (2) summary
    cd01850
    Location:276550
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:258564
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  8. NM_001293696.2NP_001280625.1  septin-9 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks three 5' exons, but has an alternate 5' exon, as compared to variant 1. The resulting isoform (h) has a distinct and shorter N-terminus, as compared to isoform a.
    Source sequence(s)
    AC111170, AC111182
    Consensus CDS
    CCDS74166.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000468120.1, ENST00000585930.5
    Conserved Domains (2) summary
    cd01850
    Location:71345
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:53359
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  9. NM_001293697.2NP_001280626.1  septin-9 isoform f

    See identical proteins and their annotated locations for NP_001280626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks three 5' exons, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (f) has a much shorter N-terminus, as compared to isoform a. Variants 7, 10 and 11 encode the same isoform f.
    Source sequence(s)
    AC111170
    Consensus CDS
    CCDS45795.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000466247.1, ENST00000591088.5
    Conserved Domains (2) summary
    cd01850
    Location:44318
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:26332
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  10. NM_001293698.2NP_001280627.1  septin-9 isoform f

    See identical proteins and their annotated locations for NP_001280627.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks three 5' exons, but has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (f) has a much shorter N-terminus, as compared to isoform a.
    Source sequence(s)
    AC111170
    Consensus CDS
    CCDS45795.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000466648.1, ENST00000592951.5
    Conserved Domains (2) summary
    cd01850
    Location:44318
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:26332
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
  11. NM_006640.4NP_006631.2  septin-9 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as alpha) lacks two 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (c) has a shorter and different N-terminus, as compared to isoform a.
    Source sequence(s)
    AA523782, AJ312321, BC021192, BC064642, BQ279153, DB007851
    Consensus CDS
    CCDS45791.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    UniProtKB/TrEMBL
    A0A0S2Z5A5
    Related
    ENSP00000329161.8, ENST00000329047.12
    Conserved Domains (2) summary
    cd01850
    Location:277551
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:259565
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    77281499..77500596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315955.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    78784..79107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center