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SEPTIN7 septin 7 [ Homo sapiens (human) ]

Gene ID: 989, updated on 11-Apr-2024

Summary

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Official Symbol
SEPTIN7provided by HGNC
Official Full Name
septin 7provided by HGNC
Primary source
HGNC:HGNC:1717
See related
Ensembl:ENSG00000122545 MIM:603151; AllianceGenome:HGNC:1717
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
CDC3; CDC10; SEPT7; SEPT7A; Septin-7; NBLA02942
Summary
This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]
Expression
Ubiquitous expression in brain (RPKM 77.8), lymph node (RPKM 34.7) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
7p14.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (35800986..35915763)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (35941987..36057268)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (35840596..35946720)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901615 Neighboring gene SEPTIN7 divergent transcript Neighboring gene glycine cleavage system protein H (aminomethyl carrier) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25842 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:35840081-35840704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18098 Neighboring gene gem-associated protein 7-like Neighboring gene zinc finger protein 383 pseudogene Neighboring gene RNA, U6 small nuclear 1085, pseudogene

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. Revisiting SEPT7 and the slippage of β-strands in the septin family. Brognara G, et al. J Struct Biol, 2019 Jul 1. PMID 31009756
  2. The role of septin 7 in physiology and pathological disease: A systematic review of current status. Wang X, et al. J Cell Mol Med, 2018 Jul. PMID 29602250, Free PMC Article
  3. Overexpression of septin-7 inhibits melatonin-induced cell apoptosis in human fetal osteoblastic cells via suppression of endoplasmic reticulum stress. Meng X, et al. Mol Med Rep, 2018 Mar. PMID 29344665
  4. Molecular Memory of Morphologies by Septins during Neuron Generation Allows Early Polarity Inheritance. Boubakar L, et al. Neuron, 2017 Aug 16. PMID 28817802
  5. SEPT7 overexpression inhibits glioma cell migration by targeting the actin cytoskeleton pathway. Hou M, et al. Oncol Rep, 2016 Apr. PMID 26846171

See all (148) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization.
    Title: X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization.
  2. Protein Kinase A-Mediated Septin7 Phosphorylation Disrupts Septin Filaments and Ciliogenesis.
    Title: Protein Kinase A-Mediated Septin7 Phosphorylation Disrupts Septin Filaments and Ciliogenesis.
  3. An atomic model for the human septin hexamer by cryo-EM.
    Title: An atomic model for the human septin hexamer by cryo-EM.
  4. Septin 7 is a centrosomal protein that ensures S phase entry and microtubule nucleation by maintaining the abundance of p150(glued).
    Title: Septin 7 is a centrosomal protein that ensures S phase entry and microtubule nucleation by maintaining the abundance of p150(glued).
  5. SEPT7 regulates Ca(2+) entry through Orai channels in human neural progenitor cells and neurons.
    Title: SEPT7 regulates Ca(2+) entry through Orai channels in human neural progenitor cells and neurons.
  6. Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
    Title: Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
  7. Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
    Title: Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
  8. Analysis of the enrichment of gene ontology cellular components highlighted some important interactions between molecules involved in the spliceosome with septin 2 and septin 7 in particular.
    Title: Protein-protein interaction analysis highlights the role of septins in membrane enclosed lumen and mRNA processing.
  9. present two high-resolution structures of the SEPT7 GTPase domain complexed with GDP. The higher resolution structures provide unambiguous insight into the interactions at the G-interface where a structural motif based on an antiparallel beta-bridge allows for the rationalization of why some septins show nucleotide-dependent beta-strand slippage and others do not.
    Title: Revisiting SEPT7 and the slippage of β-strands in the septin family.
  10. The role of septin 7 in cell proliferation, cytokinesis, nervous and reproductive systems, as well as the underlying molecular events linking septin 7 to various diseases, such as Alzheimer's disease, schizophrenia, neuropsychiatric systemic lupus erythematosus, tumour.
    Title: The role of septin 7 in physiology and pathological disease: A systematic review of current status.
Submit: New GeneRIF Correction See all GeneRIFs (44)

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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686M10191

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 identical protein binding IPI
Inferred from Physical Interaction
more info
 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 
enables structural molecule activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
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
  
involved_in regulation of embryonic cell shape ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
colocalizes_with apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cleavage furrow IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in midbody IEA
Inferred from Electronic Annotation
more info
  
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus 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 
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm annulus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle IEA
Inferred from Electronic Annotation
more info
  
located_in stress fiber IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
septin-7
Names
CDC10 (cell division cycle 10, S. cerevisiae, homolog)
CDC10 protein homolog

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.

mRNA and Protein(s)

  1. NM_001011553.4 → NP_001011553.2  septin-7 isoform 2

    See identical proteins and their annotated locations for NP_001011553.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC007551, AC087072, AK290545, DC414394
    Consensus CDS
    CCDS94086.1
    UniProtKB/TrEMBL
    E7EPK1
    Related
    ENSP00000516132.1, ENST00000705486.1
    Conserved Domains (2) summary
    cd01850
    Location:46 → 316
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:336 → 432
    PRK12704; phosphodiesterase; Provisional

  2. NM_001242956.1 → NP_001229885.1  septin-7 isoform 3

    See identical proteins and their annotated locations for NP_001229885.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is 36 aa shorter than isoform 1.
    Source sequence(s)
    AC007551, AC087072, AI651908, AK297883, DC414394
    Consensus CDS
    CCDS75582.1
    UniProtKB/TrEMBL
    B4DPQ6, G3V1Q4
    Related
    ENSP00000413507.2, ENST00000435235.6
    Conserved Domains (2) summary
    cd01850
    Location:21 → 281
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:301 → 397
    PRK12704; phosphodiesterase; Provisional

  3. NM_001363715.2 → NP_001350644.1  septin-7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007551, AC087072
    Consensus CDS
    CCDS87494.1
    UniProtKB/TrEMBL
    A0A024RA47, A0A024RA87, B4DPQ6
    Conserved Domains (2) summary
    cd01850
    Location:1 → 264
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:284 → 380
    PRK12704; phosphodiesterase; Provisional

  4. NM_001375299.1 → NP_001362228.1  septin-7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007551, AC087072
    Consensus CDS
    CCDS87494.1
    UniProtKB/TrEMBL
    A0A024RA47, A0A024RA87, B4DPQ6
    Related
    ENSP00000381992.4, ENST00000399034.7
    Conserved Domains (2) summary
    cd01850
    Location:1 → 264
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:284 → 380
    PRK12704; phosphodiesterase; Provisional

  5. NM_001788.6 → NP_001779.3  septin-7 isoform 1

    See identical proteins and their annotated locations for NP_001779.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007551, AC087072, AI651908, BC093640, BF941061, DC414394
    Consensus CDS
    CCDS94085.1
    UniProtKB/Swiss-Prot
    Q16181, Q52M76, Q6NX50
    UniProtKB/TrEMBL
    E7EPK1
    Related
    ENSP00000344868.8, ENST00000350320.11
    Conserved Domains (2) summary
    cd01850
    Location:47 → 317
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:337 → 433
    PRK12704; phosphodiesterase; Provisional

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    35800986..35915763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515661.3 → XP_011513963.1  septin-7 isoform X3

    UniProtKB/TrEMBL
    Q59EY4
    Conserved Domains (2) summary
    cd01850
    Location:47 → 317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:29 → 407
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

  2. XM_011515656.3 → XP_011513958.1  septin-7 isoform X1

    UniProtKB/TrEMBL
    E7EPK1
    Conserved Domains (2) summary
    cd01850
    Location:47 → 317
    CDC_Septin; CDC/Septin GTPase family
    COG5019
    Location:29 → 419
    CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

  3. XM_047421095.1 → XP_047277051.1  septin-7 isoform X4

  4. XM_006715806.4 → XP_006715869.1  septin-7 isoform X2

    UniProtKB/TrEMBL
    E7EPK1
    Conserved Domains (2) summary
    cd01850
    Location:47 → 317
    CDC_Septin; CDC/Septin GTPase family
    PRK12704
    Location:348 → 444
    PRK12704; phosphodiesterase; Provisional

  5. XM_047421097.1 → XP_047277053.1  septin-7 isoform X6

    Related
    ENSP00000381993.4, ENST00000399035.7

  6. XM_047421096.1 → XP_047277052.1  septin-7 isoform X5

    UniProtKB/TrEMBL
    A0A023T695

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    35941987..36057268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359448.1 → XP_054215423.1  septin-7 isoform X1

  2. XM_054359450.1 → XP_054215425.1  septin-7 isoform X3

  3. XM_054359449.1 → XP_054215424.1  septin-7 isoform X2

  4. XM_054359452.1 → XP_054215427.1  septin-7 isoform X6

  5. XM_054359451.1 → XP_054215426.1  septin-7 isoform X5

    UniProtKB/TrEMBL
    A0A023T695
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16181.2 GenPept UniProtKB/Swiss-Prot:Q16181

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