LOCUS NP_001243751 331 aa linear PRI 22-SEP-2024
DEFINITION septin-4 isoform 6 [Homo sapiens].
ACCESSION NP_001243751
VERSION NP_001243751.1
DBSOURCE REFSEQ: accession NM_001256822.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 331)
AUTHORS Hao,Q., Chen,J., Lu,H. and Zhou,X.
TITLE The ARTS of p53-dependent mitochondrial apoptosis
JOURNAL J Mol Cell Biol 14 (10) (2023)
PUBMED 36565718
REMARK GeneRIF: The ARTS of p53-dependent mitochondrial apoptosis.
Review article
REFERENCE 2 (residues 1 to 331)
AUTHORS Wang,G., Zhu,X., Gao,Y., Lv,M., Li,K., Tang,D., Wu,H., Xu,C.,
Geng,H., Shen,Q., Zha,X., Duan,Z., Zhang,J., Hua,R., Tao,F.,
Zhou,P., Wei,Z., Cao,Y., Guo,R. and He,X.
TITLE Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47),
encoding a conserved annulus protein, cause thin midpiece
spermatozoa and male infertility in humans
JOURNAL Hum Mutat 43 (12), 2079-2090 (2022)
PUBMED 36135717
REMARK GeneRIF: Biallelic loss-of-function mutations in SEPTIN4
(C17ORF47), encoding a conserved annulus protein, cause thin
midpiece spermatozoa and male infertility in humans.
REFERENCE 3 (residues 1 to 331)
AUTHORS Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
Harper,J.W. and Gygi,S.P.
TITLE Dual proteome-scale networks reveal cell-specific remodeling of the
human interactome
JOURNAL Cell 184 (11), 3022-3040 (2021)
PUBMED 33961781
REFERENCE 4 (residues 1 to 331)
AUTHORS Hao,Q., Chen,J., Liao,J., Huang,Y., Gan,Y., Larisch,S., Zeng,S.X.,
Lu,H. and Zhou,X.
TITLE p53 induces ARTS to promote mitochondrial apoptosis
JOURNAL Cell Death Dis 12 (2), 204 (2021)
PUBMED 33627621
REMARK GeneRIF: p53 induces ARTS to promote mitochondrial apoptosis.
Publication Status: Online-Only
REFERENCE 5 (residues 1 to 331)
AUTHORS Larisch,S.
TITLE The ARTS connection: role of ARTS in apoptosis and cancer
JOURNAL Cell Cycle 3 (8), 1021-1023 (2004)
PUBMED 15254396
REMARK Review article
REFERENCE 6 (residues 1 to 331)
AUTHORS Tanaka,M., Tanaka,T., Kijima,H., Itoh,J., Matsuda,T., Hori,S. and
Yamamoto,M.
TITLE Characterization of tissue- and cell-type-specific expression of a
novel human septin family gene, Bradeion
JOURNAL Biochem Biophys Res Commun 286 (3), 547-553 (2001)
PUBMED 11511094
REFERENCE 7 (residues 1 to 331)
AUTHORS Zieger,B., Tran,H., Hainmann,I., Wunderle,D., Zgaga-Griesz,A.,
Blaser,S. and Ware,J.
TITLE Characterization and expression analysis of two human septin genes,
PNUTL1 and PNUTL2
JOURNAL Gene 261 (2), 197-203 (2000)
PUBMED 11167005
REFERENCE 8 (residues 1 to 331)
AUTHORS Larisch,S., Yi,Y., Lotan,R., Kerner,H., Eimerl,S., Tony Parks,W.,
Gottfried,Y., Birkey Reffey,S., de Caestecker,M.P., Danielpour,D.,
Book-Melamed,N., Timberg,R., Duckett,C.S., Lechleider,R.J.,
Steller,H., Orly,J., Kim,S.J. and Roberts,A.B.
TITLE A novel mitochondrial septin-like protein, ARTS, mediates apoptosis
dependent on its P-loop motif
JOURNAL Nat Cell Biol 2 (12), 915-921 (2000)
PUBMED 11146656
REFERENCE 9 (residues 1 to 331)
AUTHORS Paavola,P., Horelli-Kuitunen,N., Palotie,A. and Peltonen,L.
TITLE Characterization of a novel gene, PNUTL2, on human chromosome
17q22-q23 and its exclusion as the Meckel syndrome gene
JOURNAL Genomics 55 (1), 122-125 (1999)
PUBMED 9889007
REFERENCE 10 (residues 1 to 331)
AUTHORS Xie,H., Surka,M., Howard,J. and Trimble,W.S.
TITLE Characterization of the mammalian septin H5: distinct patterns of
cytoskeletal and membrane association from other septin proteins
JOURNAL Cell Motil Cytoskeleton 43 (1), 52-62 (1999)
PUBMED 10340703
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA343015.1, AK294094.1 and
AC005666.1.
Summary: 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
organization. Disruption of septin function disturbs cytokinesis
and results in large multinucleate or polyploid cells. This gene is
highly expressed in brain and heart. Alternatively spliced
transcript variants encoding different isoforms have been described
for this gene. One of the isoforms (known as ARTS) is distinct; it
is localized to the mitochondria, and has a role in apoptosis and
cancer. [provided by RefSeq, Nov 2010].
Transcript Variant: This variant (6) differs in the 5' UTR, lacks a
portion of the 5' coding region, and initiates translation at a
downstream start codon, compared to variant 7. The encoded isoform
(6) is shorter than isoform 5.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK294094.1, SRR1660805.38279.1
[ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: PMID: 11146656; reported by
MitoCarta
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..331
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q22"
Protein 1..331
/product="septin-4 isoform 6"
/note="septin-M; cell division control-related protein 2;
cerebral protein 7; CE5B3 beta; bradeion beta; brain
protein H5; peanut-like protein 2; apoptosis-related
protein in the TGF-beta signaling pathway; uncharacterized
protein C17orf47"
/calculated_mol_wt=38411
Region 1..267
/region_name="Septin"
/note="pfam00735"
/db_xref="CDD:395596"
Site 4..11
/site_type="other"
/note="G1 box"
/db_xref="CDD:206649"
Site order(6..12,61,64,142..143,145,201..202)
/site_type="other"
/note="GTP/Mg2+ binding site [chemical binding]"
/db_xref="CDD:206649"
Site 36..44
/site_type="other"
/note="Switch I region"
/db_xref="CDD:206649"
Site 38
/site_type="other"
/note="G2 box"
/db_xref="CDD:206649"
Site 61..64
/site_type="other"
/note="G3 box"
/db_xref="CDD:206649"
Site order(63..98,99..108)
/site_type="other"
/note="Switch II region"
/db_xref="CDD:206649"
Site 142..145
/site_type="other"
/note="G4 box"
/db_xref="CDD:206649"
Site 201..203
/site_type="other"
/note="G5 box"
/db_xref="CDD:206649"
CDS 1..331
/gene="SEPTIN4"
/gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
/coded_by="NM_001256822.2:551..1546"
/note="isoform 6 is encoded by transcript variant 6"
/db_xref="CCDS:CCDS58581.1"
/db_xref="GeneID:5414"
/db_xref="HGNC:HGNC:9165"
/db_xref="MIM:603696"
ORIGIN
1 mvagesglgk stlvnslflt dlyrdrkllg aeerimqtve itkhavdiee kgvrlrltiv
61 dtpgfgdavn ntecwkpvae yidqqfeqyf rdesglnrkn iqdnrvhccl yfispfghgl
121 rpldvefmka lhqrvnivpi lakadtltpp evdhkkrkir eeiehfgiki yqfpdcdsde
181 dedfklqdqa lkesipfavi gsntvvearg rrvrgrlypw givevenpgh cdfvklrtml
241 vrthmqdlkd vtrethyeny raqciqsmtr lvvkernrnk ltresgtdfp ipavppgtdp
301 eteklirekd eelrrmqeml hkiqkqmken y
//