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septin-4 isoform 6 [Homo sapiens]

NCBI Reference Sequence: NP_001243751.1

Identical Proteins FASTA Graphics 

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
//
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"
Feature NP_001243751 : 1 segment
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