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    SEPTIN9 septin 9 [ Homo sapiens (human) ]

    Gene ID: 10801, updated on 29-Oct-2024

    Summary

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    Official Symbol
    SEPTIN9provided by HGNC
    Official Full Name
    septin 9provided by HGNC
    Primary source
    HGNC:HGNC:7323
    See related
    Ensembl:ENSG00000184640 MIM:604061; AllianceGenome:HGNC:7323
    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
    mouse all
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    Genomic context

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    See SEPTIN9 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (77281499..77500596)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (78174746..78394627)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (75277581..75496678)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SEC14 like lipid binding 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75213877-75214400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:75217127-75217628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:75217629-75218128 Neighboring gene CYCS pseudogene 40 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:75229305-75230504 Neighboring gene Sharpr-MPRA regulatory region 14112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75243257-75244107 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:75250208-75251407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75253655-75254312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75254313-75254968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75262063-75262564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75262565-75263064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75275663-75276310 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:75277912-75278075 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:75281897-75283096 Neighboring gene SEPTIN9 divergent transcript Neighboring gene lung adenocarcinoma-associated transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75299804-75300691 Neighboring gene HNF4 motif-containing MPRA enhancer 212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75304718-75305262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75306143-75306644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75310435-75311270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75312943-75313778 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:75316721-75316933 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:75319666-75319839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75322007-75322925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75325959-75326536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75326537-75327112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75352605-75353106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75359740-75360398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75360399-75361055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75371719-75372408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75373534-75374144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75378629-75379166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75379167-75379704 Neighboring gene uncharacterized LOC124904062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75385497-75386227 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75387689-75388418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75388419-75389149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75389150-75389879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75394009-75394727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75405296-75405800 Neighboring gene uncharacterized LOC112268199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75415683-75416350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75418355-75419020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75419156-75419960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75422645-75423553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12833 Neighboring gene microRNA 4316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75430535-75431348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75433791-75434604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12837 Neighboring gene uncharacterized LOC112268198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75443411-75443911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75445010-75445917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75445918-75446824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75446825-75447732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75448639-75449546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75450454-75451360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75451361-75452267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75453531-75454145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75452917-75453530 Neighboring gene uncharacterized LOC105371903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75455989-75456602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75456603-75457216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75462088-75462839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75462840-75463592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75464738-75465290 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:75466846-75468045 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75468633-75469338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75470525-75471025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75470024-75470524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75471103-75471943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75492509-75493058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:75493059-75493606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75498470-75498970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75523708-75524208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75524209-75524709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75531141-75531642 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75531643-75532142 Neighboring gene uncharacterized LOC400622 Neighboring gene uncharacterized LOC100507351 Neighboring gene uncharacterized LOC124904103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75559446-75559946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:75559947-75560447

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Simultaneous Analysis of SEPT9 Promoter Methylation Status, Micronuclei Frequency, and Folate-Related Gene Polymorphisms: The Potential for a Novel Blood-Based Colorectal Cancer Biomarker. Ravegnini G, et al. Int J Mol Sci, 2015 Dec 1. PMID 26633373, Free PMC Article
    2. Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states. Hoque R, et al. J Clin Neuromuscul Dis, 2008 Jun. PMID 18525421
    3. Plasma levels of methylated septin 9 are capable of detecting hepatocellular carcinoma and hepatic cirrhosis. He N, et al. Mol Med Rep, 2020 Oct. PMID 32945374, Free PMC Article
    4. A systematic review of the performance of the SEPT9 gene methylation assay in colorectal cancer screening, monitoring, diagnosis and prognosis. Song L, et al. Cancer Biomark, 2017. PMID 28128742
    5. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study. Laccone F, et al. Clin Genet, 2008 Sep. PMID 18492087

    See all (272) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SEPT9: From pan-cancer to lung squamous cell carcinoma.
      Title: SEPT9: From pan-cancer to lung squamous cell carcinoma.
    2. Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions.
      Title: Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions.
    3. Association of Methylenetetrahydrofolate Reductase rs1801133 Gene Polymorphism with Cancer Risk and Septin 9 Methylation in Patients with Colorectal Cancer.
      Title: Association of Methylenetetrahydrofolate Reductase rs1801133 Gene Polymorphism with Cancer Risk and Septin 9 Methylation in Patients with Colorectal Cancer.
    4. The concerted action of SEPT9 and EPLIN modulates the adhesion and migration of human fibroblasts.
      Title: The concerted action of SEPT9 and EPLIN modulates the adhesion and migration of human fibroblasts.
    5. Septin9 DNA methylation is associated with breast cancer recurrence or metastasis.
      Title: Septin9 DNA methylation is associated with breast cancer recurrence or metastasis.
    6. SEPT9, H4C6, and RASSF1A methylation in nasopharyngeal swabs: A reflection of potential minimally invasive biomarkers for early screening of nasopharyngeal cancer.
      Title: SEPT9, H4C6, and RASSF1A methylation in nasopharyngeal swabs: A reflection of potential minimally invasive biomarkers for early screening of nasopharyngeal cancer.
    7. Circulating Cell-Free SEPT9 DNA Methylation in Blood Is a Biomarker for Minimal Residual Disease Detection in Head and Neck Squamous Cell Carcinoma Patients.
      Title: Circulating Cell-Free SEPT9 DNA Methylation in Blood Is a Biomarker for Minimal Residual Disease Detection in Head and Neck Squamous Cell Carcinoma Patients.
    8. Septin 9 Orients the Apico-Basal Polarity Axis and Controls Plasticity Signals.
      Title: Septin 9 Orients the Apico-Basal Polarity Axis and Controls Plasticity Signals.
    9. Analyzing the Role of Septin9 Gene Methylation in the Diagnosis and Treatment of Primary Liver Cancer in the Elderly.
      Title: Analyzing the Role of Septin9 Gene Methylation in the Diagnosis and Treatment of Primary Liver Cancer in the Elderly.
    10. SEPT9 Expression in Hepatic Nodules: An Immunohistochemical Study of Hepatocellular Neoplasm and Metastasis.
      Title: SEPT9 Expression in Hepatic Nodules: An Immunohistochemical Study of Hepatocellular Neoplasm and Metastasis.
    Submit: New GeneRIF Correction See all GeneRIFs (112)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Amyotrophic neuralgia
    MedGen: C1834304 OMIM: 162100 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ75490, KIAA0991

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton-dependent cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cell division site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of septin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of septin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    septin-9
    Names
    MLL septin-like fusion protein MSF-A
    Ov/Br septin
    ovarian/breast septin
    peanut-like 4
    septin D1

    NCBI Reference Sequences (RefSeq)

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    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_011683.2 RefSeqGene

      Range
      5090..224184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_370

    mRNA and Protein(s)

    1. NM_001113491.2 → NP_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
      A8K2V3, B3KPM0, B4DTL9, B4E0N2, B4E274, B7Z654, Q96QF3, Q96QF4, Q96QF5, Q9HA04, Q9UG40, Q9UHD8, Q9Y5W4
      Related
      ENSP00000391249.1, ENST00000427177.6
      Conserved Domains (2) summary
      cd01850
      Location:295 → 569
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:277 → 583
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    2. NM_001113492.2 → NP_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)
      AC068594, AC111170, AC111182
      Consensus CDS
      CCDS45793.1
      UniProtKB/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000400181.2, ENST00000449803.6
      Conserved Domains (2) summary
      cd01850
      Location:131 → 405
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:113 → 419
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    3. NM_001113493.2 → NP_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
      Related
      ENSP00000405877.1, ENST00000423034.6
      Conserved Domains (2) summary
      cd01850
      Location:288 → 562
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:270 → 576
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    4. NM_001113494.1 → NP_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/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000403194.1, ENST00000427674.6
      Conserved Domains (2) summary
      cd01850
      Location:131 → 405
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:113 → 419
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    5. NM_001113495.2 → NP_001106967.2  septin-9 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes isoform f.
      Source sequence(s)
      AC111170
      Consensus CDS
      CCDS45795.1
      UniProtKB/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000504196.1, ENST00000427180.5
      Conserved Domains (1) summary
      cd01850
      Location:44 → 318
      CDC_Septin; CDC/Septin GTPase family

    6. NM_001113496.2 → NP_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/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000438089.2, ENST00000541152.6
      Conserved Domains (1) summary
      cd01850
      Location:44 → 318
      CDC_Septin; CDC/Septin GTPase family

    7. NM_001293695.2 → NP_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
      Related
      ENSP00000468406.1, ENST00000591198.5
      Conserved Domains (2) summary
      cd01850
      Location:276 → 550
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:258 → 564
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    8. NM_001293696.2 → NP_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/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000468120.1, ENST00000585930.5
      Conserved Domains (2) summary
      cd01850
      Location:71 → 345
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:53 → 359
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    9. NM_001293697.2 → NP_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/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000466247.1, ENST00000591088.5
      Conserved Domains (1) summary
      cd01850
      Location:44 → 318
      CDC_Septin; CDC/Septin GTPase family

    10. NM_001293698.2 → NP_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/TrEMBL
      A0A0S2Z5W9
      Related
      ENSP00000466648.1, ENST00000592951.5
      Conserved Domains (1) summary
      cd01850
      Location:44 → 318
      CDC_Septin; CDC/Septin GTPase family

    11. NM_006640.5 → NP_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)
      AC111170, AC111182
      Consensus CDS
      CCDS45791.1
      UniProtKB/TrEMBL
      A0A0S2Z5A5
      Related
      ENSP00000329161.8, ENST00000329047.13
      Conserved Domains (2) summary
      cd01850
      Location:277 → 551
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:259 → 565
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315955.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      78828..79107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      78174746..78394627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHD8.2 GenPept UniProtKB/Swiss-Prot:Q9UHD8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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