SEPTIN4
entrez
5414
canonical
uniprot
O43236
canonical
ensembl
ENSG00000108387
resolver
ensp
ENSP00000321071
resolver
ensp
ENSP00000321674
resolver
ensp
ENSP00000354874
resolver
ensp
ENSP00000402000
resolver
ensp
ENSP00000402348
resolver
ensp
ENSP00000414779
resolver
ensp
ENSP00000462727
resolver
ensp
ENSP00000463768
resolver
ensp
ENSP00000500383
resolver
enst
ENST00000580844
resolver
genesymbol
SEPTIN4
resolver
genesymbol_syn
C17orf47
resolver
genesymbol_syn
PNUTL2
resolver
genesymbol_syn
SEP4
resolver
genesymbol_syn
SEPT4
resolver
hgnc
HGNC:9165
resolver
uniprot
A0A5F9ZHH3
resolver
uniprot
B2RD42
resolver
uniprot
B3KSX9
resolver
uniprot
B4DXC6
resolver
uniprot
B4DXV5
resolver
uniprot
J3KSZ7
resolver
uniprot
Q6IAP3
resolver
uniprot
Q8N821
resolver
uniprot
Q8NEP4
resolver
uniprot
Q9H315
resolver
uniprot
Q9UM58
resolver
uniprot_entry
J3KSZ7_HUMAN
resolver
uniprot_entry
SEPT4_HUMAN
resolver
uniprot_sec
A0A5F9ZHH3
resolver
uniprot_sec
B2RD42
resolver
uniprot_sec
B3KSX9
resolver
uniprot_sec
B4DXC6
resolver
uniprot_sec
B4DXV5
resolver
uniprot_sec
Q6IAP3
resolver
uniprot_sec
Q8N821
resolver
uniprot_sec
Q8NEP4
resolver
uniprot_sec
Q9H315
resolver
uniprot_sec
Q9UM58
resolver
amino_acid_sequence
MVKTNKPGAKVAVSAQRGSEVTTNTSPQQGHGYVLASSHRSAAVSLNPSHRRSEAAHPTTPHSASDYPRSVSLQSGPGHYAVPTPRGPETGPRTESSRHSSPHLKSQKTQTLASHASSRQWKVSPPREEAARRGSESKSGREVGHHASSIPDAKSTHQLSFQDQKNNLQSQILEDDPPSKVQNPQGVRVPRRILSYPKDEAVQTEPIQRITTTSEIRSPRSPSLLEHGSSCVSADYQTAQRRVPVEESETGPYGPIPSKPKALYRNMNLDSLLKLSVLKDSDGVHRVSARVDPESLHKYSAYPETKPSAKVLVSSQVESNVRTPIRGNSEVGRRVTISPGVQSVEPTHHVTVPSVSEGSHKSSMFVTPEPIYKQQTQKPPEITYMSQGPTPRYPELSQKPSIHAELELTPRPLPPRSLPRYGPDSSWWPLLNPEVETPQSQLTTPDFEPKCSPSLDLLLSGFKIDSSPFCEDLKFQREKASLSPPSPPKEFPSWAPLSEVPQTPKHTCKQPIQRFTAFFLDVSEEMYNRVIWWLKDEEIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 99 (SPGF99) [MIM:621194]: An autosomal recessive, male infertility disorder characterized by asthenoteratozoospermia with markedly reduced sperm progressive motility, and abnormal sperm morphology. Patient sperm exhibit a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath. {ECO:0000269|PubMed:36135717}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Filament-forming cytoskeletal GTPase (Probable). Pro-apoptotic protein involved in LGR5-positive intestinal stem cell and Paneth cell expansion in the intestines, via its interaction with XIAP (By similarity). May also play a role in the regulation of cell fate in the intestine (By similarity). Positive regulator of apoptosis involved in hematopoietic stem cell homeostasis; via its interaction with XIAP (By similarity). Negative regulator of repair and hair follicle regeneration in response to injury, due to inhibition of hair follicle stem cell proliferation, potentially via its interaction with XIAP (By similarity). Plays an important role in male fertility and sperm motility (PubMed:36135717). During spermiogenesis, essential for the establishment of the annulus (a fibrous ring structure connecting the midpiece and the principal piece of the sperm flagellum) which is a requisite for the structural and mechanical integrity of the sperm (PubMed:36135717). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Required for dopaminergic metabolism in presynaptic autoreceptors; potentially via activity as a presynaptic scaffold protein (By similarity). {ECO:0000250|UniProtKB:P28661, ECO:0000269|PubMed:36135717, ECO:0000305}.; FUNCTION: [Isoform ARTS]: Required for the induction of cell death mediated by TGF-beta and possibly by other apoptotic stimuli (PubMed:11146656, PubMed:15837787). Induces apoptosis through binding and inhibition of XIAP resulting in significant reduction in XIAP levels, leading to caspase activation and cell death (PubMed:15029247). Mediates the interaction between BCL2 and XIAP, thereby positively regulating the ubiquitination and degradation of BCL2 and promoting apoptosis (PubMed:29020630). {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247, ECO:0000269|PubMed:15837787, ECO:0000269|PubMed:29020630}.
uniprot
proteins
mass_dalton
112439
uniprot
proteins
mutagenesis
MUTAGEN O43236-6:137..139; /note="GKS->ENP: Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding."; /evidence="ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by DYRK1A. {ECO:0000250|UniProtKB:P28661}.; PTM: Ubiquitinated by AREL1. {ECO:0000269|PubMed:23479728}.
uniprot
proteins
protein_family
Septin GTPase family
uniprot
proteins
protein_family
TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily
uniprot
proteins
pubmed
11146656
uniprot
proteins
pubmed
11167005
uniprot
proteins
pubmed
11511094
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15029247
uniprot
proteins
pubmed
15116257
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15837787
uniprot
proteins
pubmed
15915442
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17296554
uniprot
proteins
pubmed
17546647
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
21695558
uniprot
proteins
pubmed
23479728
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25588830
uniprot
proteins
pubmed
29020630
uniprot
proteins
pubmed
30389919
uniprot
proteins
pubmed
36135717
uniprot
proteins
pubmed
9889007
uniprot
proteins
sequence_length
996
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P28661}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830, ECO:0000269|PubMed:36135717}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:15116257}. Cell projection, axon {ECO:0000250|UniProtKB:P28661}. Cell projection, dendrite {ECO:0000250|UniProtKB:P28661}. Perikaryon {ECO:0000250|UniProtKB:P28661}. Synapse {ECO:0000269|PubMed:17296554}. Note=In platelets, found in areas surrounding alpha-granules (PubMed:15116257). Found in the sperm annulus, a fibrous ring structure connecting the midpiece and the principal piece of the sperm flagellum (PubMed:25588830, PubMed:36135717). Expressed and colocalized with SLC6A3 and SNCA in axon terminals, especially at the varicosities (By similarity). {ECO:0000250|UniProtKB:P28661, ECO:0000269|PubMed:15116257, ECO:0000269|PubMed:25588830, ECO:0000269|PubMed:36135717}.; SUBCELLULAR LOCATION: [Isoform ARTS]: Mitochondrion {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247, ECO:0000269|PubMed:21695558}. Nucleus {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247}. Note=While predominantly localized in the mitochondria under resting conditions, translocates into the nucleus after TGF-beta treatment and apoptosis induction. Expressed at the annulus in spermatozoa (By similarity). {ECO:0000250|UniProtKB:P28661, ECO:0000269|PubMed:11146656}.
uniprot
proteins