SEPTIN7 septin 7 [Homo sapiens (human)] - Gene

Summary

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

Location:: 7p14.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (35800986..35915763)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (35941987..36057268)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (35840596..35946720)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Protein Kinase A-Mediated Septin7 Phosphorylation Disrupts Septin Filaments and Ciliogenesis.
Title: Protein Kinase A-Mediated Septin7 Phosphorylation Disrupts Septin Filaments and Ciliogenesis.
An atomic model for the human septin hexamer by cryo-EM.
Title: An atomic model for the human septin hexamer by cryo-EM.
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).
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.
Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
Title: Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
Title: Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483594

STS-S72008 (e-PCR)
- UniSTS:81717

RH11850 (e-PCR)
- UniSTS:7500

Sept7 (e-PCR), detects polymorphism
- UniSTS:507215

CDC10_514 (e-PCR)
- UniSTS:277079

G10723 (e-PCR)
- UniSTS:24666

RH102526 (e-PCR)
- UniSTS:96860

D7S3201 (e-PCR)
- UniSTS:229483

STS-H79300 (e-PCR)
- UniSTS:76503

D7S2641 (e-PCR)
- UniSTS:77284

WI-9389 (e-PCR)
- UniSTS:46571

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 more info	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	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 more info	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)

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
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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

35800986..35915763

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
XM_047421095.1 → XP_047277051.1 septin-7 isoform X4
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
XM_047421097.1 → XP_047277053.1 septin-7 isoform X6

Related

ENSP00000381993.4, ENST00000399035.7
XM_047421096.1 → XP_047277052.1 septin-7 isoform X5

UniProtKB/TrEMBL

A0A023T695