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SEPT9 septin 9 [ Homo sapiens (human) ]

Gene ID: 10801, updated on 15-Sep-2014
Official Symbol
SEPT9provided by HGNC
Official Full Name
septin 9provided by HGNC
Primary source
HGNC:HGNC:7323
See related
Ensembl:ENSG00000184640; HPRD:10360; MIM:604061; Vega:OTTHUMG00000177327
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; 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]
See SEPT9 in Epigenomics, MapViewer
Location:
17q25
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (77281410..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 small Cajal body-specific RNA 16 Neighboring gene SEC14-like 1 (S. cerevisiae) Neighboring gene microRNA 6516 Neighboring gene small nucleolar RNA host gene 20 (non-protein coding) Neighboring gene cytochrome c, somatic pseudogene 40 Neighboring gene microRNA 4316 Neighboring gene uncharacterized LOC100996273 Neighboring gene uncharacterized LOC100507351 Neighboring gene uncharacterized LOC400622 Neighboring gene uncharacterized LOC102723805

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hereditary neuralgic amyotrophy 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

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 Protein Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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 TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GTP catabolic process TAS
Traceable Author Statement
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
protein heterooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
stress fiber IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
septin-9
Names
septin-9
septin D1
Ov/Br septin
ovarian/breast septin
MLL septin-like fusion protein MSF-A

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 

    Range
    5001..224187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_001106963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as epsilon) encodes the longest isoform (a).
    Source sequence(s)
    AA523782, AF189713, BC064642, BQ279153, DB007851, DC307336
    Consensus CDS
    CCDS45790.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000391249, OTTHUMP00000256373, ENST00000427177, OTTHUMT00000436304
    Conserved Domains (3) summary
    pfam05934
    Location:82256
    Blast Score: 98
    MCLC; Mid-1-related chloride channel (MCLC)
    cd01850
    Location:295569
    Blast Score: 1278
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:298366
    Blast Score: 118
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  2. NM_001113492.1NP_001106964.1  septin-9 isoform e

    See proteins identical to 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, ENST00000449803
    Conserved Domains (3) summary
    cd01850
    Location:131405
    Blast Score: 1265
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:134202
    Blast Score: 116
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
    cl04242
    Location:3109
    Blast Score: 92
    TrbI; Bacterial conjugation TrbI-like protein
  3. NM_001113493.1NP_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)
    AA523782, AJ312319, BC064642, BQ279153, DB007851
    Consensus CDS
    CCDS45792.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000405877, OTTHUMP00000256395, ENST00000423034, OTTHUMT00000436351
    Conserved Domains (3) summary
    pfam05934
    Location:75249
    Blast Score: 98
    MCLC; Mid-1-related chloride channel (MCLC)
    cd01850
    Location:288562
    Blast Score: 1274
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:291359
    Blast Score: 118
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  4. NM_001113494.1NP_001106966.1  septin-9 isoform e

    See proteins identical to 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, OTTHUMP00000256396, ENST00000427674, OTTHUMT00000436352
    Conserved Domains (3) summary
    cd01850
    Location:131405
    Blast Score: 1265
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:134202
    Blast Score: 116
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
    cl04242
    Location:3109
    Blast Score: 92
    TrbI; Bacterial conjugation TrbI-like protein
  5. NM_001113495.1NP_001106967.1  septin-9 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (d) has a shorter and different N-terminus, as compared to isoform a.
    Source sequence(s)
    AA523782, AK056495, BC064642, BQ279153, DB007851
    Consensus CDS
    CCDS45794.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000415624, OTTHUMP00000256401, ENST00000427180, OTTHUMT00000436361
    Conserved Domains (2) summary
    cd01850
    Location:183457
    Blast Score: 1277
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:186254
    Blast Score: 118
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  6. NM_001113496.1NP_001106968.1  septin-9 isoform f

    See proteins identical to 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)
    AA523782, AJ312320, BC064642, BQ279153, DB007851, DB148645
    Consensus CDS
    CCDS45795.1
    UniProtKB/Swiss-Prot
    Q9UHD8
    Related
    ENSP00000438089, OTTHUMP00000256398, ENST00000541152, OTTHUMT00000436358
    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  7. NM_001293695.1NP_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 isofrom (g) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AA523782, AK300270, AL080131, BC021192, DB007851, DC307336
    Conserved Domains (3) summary
    pfam05934
    Location:63237
    Blast Score: 98
    MCLC; Mid-1-related chloride channel (MCLC)
    cd01850
    Location:276550
    Blast Score: 1274
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:279347
    Blast Score: 118
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  8. NM_001293696.1NP_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)
    AA523782, AK303449, AL080131, BC021192, DB007851, DC410238
    Consensus CDS
    CCDS74166.1
    Conserved Domains (2) summary
    cd01850
    Location:71345
    Blast Score: 1250
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:74142
    Blast Score: 114
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  9. NM_001293697.1NP_001280626.1  septin-9 isoform f

    See proteins identical to 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)
    AA523782, AK299828, AL080131, BC021192, CN393537, DB007851
    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  10. NM_001293698.1NP_001280627.1  septin-9 isoform f

    See proteins identical to 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)
    AA523782, AK316473, AL080131, BC021192, DB007851
    Consensus CDS
    CCDS45795.1
    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  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
    Related
    ENSP00000329161, ENST00000329047
    Conserved Domains (3) summary
    pfam05934
    Location:64238
    Blast Score: 98
    MCLC; Mid-1-related chloride channel (MCLC)
    cd01850
    Location:277551
    Blast Score: 1272
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:280348
    Blast Score: 118
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NW_003315955.1 

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    77281410..77500596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721643.1XP_006721706.1  

    See proteins identical to XP_006721706.1

    UniProtKB/Swiss-Prot
    Q9UHD8
    Conserved Domains (3) summary
    cd01850
    Location:131405
    Blast Score: 1265
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:134202
    Blast Score: 116
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
    cl04242
    Location:3109
    Blast Score: 92
    TrbI; Bacterial conjugation TrbI-like protein
  2. XM_005256959.1XP_005257016.1  

    Conserved Domains (2) summary
    cd01850
    Location:71345
    Blast Score: 1250
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:74142
    Blast Score: 114
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  3. XM_005256960.1XP_005257017.1  

    See proteins identical to XP_005257017.1

    UniProtKB/Swiss-Prot
    Q9UHD8
    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  4. XM_006721644.1XP_006721707.1  

    See proteins identical to XP_006721707.1

    UniProtKB/Swiss-Prot
    Q9UHD8
    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  5. XM_005256961.1XP_005257018.1  

    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  6. XM_005256962.1XP_005257019.1  

    See proteins identical to XP_005257019.1

    UniProtKB/Swiss-Prot
    Q9UHD8
    Conserved Domains (2) summary
    cd01850
    Location:44318
    Blast Score: 1226
    CDC_Septin; CDC/Septin GTPase family
    COG1100
    Location:47115
    Blast Score: 111
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    70710975..70904981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. AC_000149.1 

    Range
    70908680..70922066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    75342249..75561442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)