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SEPTIN9 septin 9 [ Homo sapiens (human) ]

Gene ID: 10801, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (77281499..77500596)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (78174746..78394627)
105.20220307 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
  • 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. Analyzing the Role of Septin9 Gene Methylation in the Diagnosis and Treatment of Primary Liver Cancer in the Elderly. Liu H, et al. Altern Ther Health Med, 2023 May. PMID 36947654
  2. SEPT9 Expression in Hepatic Nodules: An Immunohistochemical Study of Hepatocellular Neoplasm and Metastasis. Kmeid M, et al. Appl Immunohistochem Mol Morphol, 2023 May-Jun 01. PMID 36867734
  3. Septin 9 methylation analysis of lymph node micrometastases for predicting relapse of colorectal cancer. Wan Y, et al. Ann Diagn Pathol, 2022 Oct. PMID 35939880
  4. Methylated Septin 9 as a Promising Biomarker in the Diagnosis and Recurrence Monitoring of Colorectal Cancer. Lu P, et al. Dis Markers, 2022. PMID 35818587, Free PMC Article
  5. Methylated Septin9 has moderate diagnostic value in colorectal cancer detection in Chinese population: a multicenter study. Lu DC, et al. BMC Gastroenterol, 2022 May 11. PMID 35546391, Free PMC Article

See all (241) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Septin9 DNA methylation is associated with breast cancer recurrence or metastasis.
    Title: Septin9 DNA methylation is associated with breast cancer recurrence or metastasis.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Septin 9 methylation analysis of lymph node micrometastases for predicting relapse of colorectal cancer.
    Title: Septin 9 methylation analysis of lymph node micrometastases for predicting relapse of colorectal cancer.
  8. Circular RNA circSEPT9 Is Upregulated in Endometrial Cancer and Promotes Cell Invasion and Migration by Downregulating miR-186 through Methylation.
    Title: Circular RNA circSEPT9 Is Upregulated in Endometrial Cancer and Promotes Cell Invasion and Migration by Downregulating miR-186 through Methylation.
  9. Methylated Septin 9 as a Promising Biomarker in the Diagnosis and Recurrence Monitoring of Colorectal Cancer.
    Title: Methylated Septin 9 as a Promising Biomarker in the Diagnosis and Recurrence Monitoring of Colorectal Cancer.
  10. Methylated Septin9 has moderate diagnostic value in colorectal cancer detection in Chinese population: a multicenter study.
    Title: Methylated Septin9 has moderate diagnostic value in colorectal cancer detection in Chinese population: a multicenter study.
Submit: New GeneRIF Correction See all GeneRIFs (108)

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_2023_10

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

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