• Gene id: 5414

Gene Summary

• Gene Symbol: Sep-04   Gene   UCSC   Ensembl
• Aliases: ARTS, BRADEION, CE5B3, H5, MART, PNUTL2, SEP4, hCDCREL-2, hucep-7
• Gene name: septin 4
• Alternate names: septin-4, CE5B3 beta, apoptosis-related protein in the TGF-beta signaling pathway, bradeion beta, brain protein H5, cell division control-related protein 2, cerebral protein 7, peanut-like protein 2, septin-M,
• Gene location: 17q22 (58540817: 58520249)     Exons: 16     NC_000017.11
• Gene summary(Entrez): This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organiza
• OMIM: 603696

Protein Summary

• Protein general information: O43236  
  • Name: Septin 4 (Apoptosis related protein in the TGF beta signaling pathway) (ARTS) (Bradeion beta) (Brain protein H5) (CE5B3 beta) (Cell division control related protein 2) (hCDCREL 2) (Cerebral protein 7) (Peanut like protein 2)
  • Length: 478  
  • Mass: 55,098
• Sequence:

  MDRSLGWQGNSVPEDRTEAGIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDD
  LEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVA
  GESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPV
  AEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVD
  HKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENP
  GHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETE
  KLIREKDEELRRMQEMLHKIQKQMKENY

• Structural information:
  • Protein Domains: Septin-type (141-414)
  • Interpro: IPR030379  IPR027417  IPR016491  IPR030643  
  • Prosite: PS51719
  • CDD: cd01850
  • STRING: ENSP00000321674
• Other Databases: GeneCards:  Sep-04  Malacards:  Sep-04

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	TAS	molecular function
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006915	apoptotic process	NAS	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0030382	sperm mitochondrion organization	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0048240	sperm capacitation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0097227	sperm annulus	IEA	cellular component
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006915	apoptotic process	NAS	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0030382	sperm mitochondrion organization	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0036126	sperm flagellum	IEA	cellular component
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0048240	sperm capacitation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0097227	sperm annulus	IEA	cellular component
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0005198	structural molecule activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0006915	apoptotic process	NAS	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04210	Apoptosis
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Cancer (breast)	GAD: 19454617
Asthenozoospermia	MIK: 18951558
Asthenozoospermia	MIK: 21898991
Asthenozoospermia	MIK: 18951558
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21898991	Idiopathic asthenozoospermic				Male infertility	2019-09-04
18951558	Asthenozoospermia			129 (108 infertile patients, 21 healthy volunteers were analyzed for sperm concentration and motility)	Male infertility	SEPT4 SEPT7
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray