SEPTIN4 (septin 4)

2007-02-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
ARTS,BRADEION,C17orf47,CE5B3,H5,MART,PNUTL2,SEP4,SEPT4,hCDCREL-2,hucep-7

Other Information

Locus ID:

NCBI: 5414
MIM: 603696
HGNC: 9165
Ensembl: ENSG00000108387

Variants:

dbSNP: 5414
ClinVar: 5414
TCGA: ENSG00000108387
COSMIC: SEPTIN4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108387ENST00000317256O43236
ENSG00000108387ENST00000317268O43236
ENSG00000108387ENST00000321691Q8NEP4
ENSG00000108387ENST00000393086O43236
ENSG00000108387ENST00000412945O43236
ENSG00000108387ENST00000426861O43236
ENSG00000108387ENST00000457347O43236
ENSG00000108387ENST00000577729J3QLR2
ENSG00000108387ENST00000578131J3KS85
ENSG00000108387ENST00000579371J3QRT6
ENSG00000108387ENST00000580809J3QRU3
ENSG00000108387ENST00000580844J3KSZ7
ENSG00000108387ENST00000581607J3QRS4
ENSG00000108387ENST00000581615J3KS26
ENSG00000108387ENST00000583114O43236
ENSG00000108387ENST00000583291J3QLA8

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
ApoptosisKEGGhsa04210
Apoptosis - multiple speciesKEGGko04215
Apoptosis - multiple speciesKEGGhsa04215

References

Pubmed IDYearTitleCitations
150292472004The mitochondrial ARTS protein promotes apoptosis through targeting XIAP.62
172965542007Sept4, a component of presynaptic scaffold and Lewy bodies, is required for the suppression of alpha-synuclein neurotoxicity.60
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
126955112003Association of the cytoskeletal GTP-binding protein Sept4/H5 with cytoplasmic inclusions found in Parkinson's disease and other synucleinopathies.36
151223232004Mitochondrial pro-apoptotic ARTS protein is lost in the majority of acute lymphoblastic leukemia patients.22
192210962009Absence of annulus in human asthenozoospermia: case report.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
152148432004Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol.15
175466472007SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.14
158377872005Regulation of the proapoptotic ARTS protein by ubiquitin-mediated degradation.12

Citation

Dessen P

SEPTIN4 (septin 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46050/septin4