U.S. flag

An official website of the United States government

septin-5 isoform 1 [Homo sapiens]

NCBI Reference Sequence: NP_002679.2

Identical Proteins FASTA Graphics 

LOCUS       NP_002679                369 aa            linear   PRI 19-SEP-2024
DEFINITION  septin-5 isoform 1 [Homo sapiens].
ACCESSION   NP_002679
VERSION     NP_002679.2
DBSOURCE    REFSEQ: accession NM_002688.6
KEYWORDS    RefSeq; MANE Select.
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 369)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (residues 1 to 369)
  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   3  (residues 1 to 369)
  AUTHORS   Marttinen,M., Ferreira,C.B., Paldanius,K.M.A., Takalo,M.,
            Natunen,T., Makinen,P., Leppanen,L., Leinonen,V., Tanigaki,K.,
            Kang,G., Hiroi,N., Soininen,H., Rilla,K., Haapasalo,A. and
            Hiltunen,M.
  TITLE     Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of
            APP C-Terminal Fragments and the Levels of Abeta
  JOURNAL   Cells 9 (11), 2482 (2020)
   PUBMED   33203136
  REMARK    GeneRIF: Presynaptic Vesicle Protein SEPTIN5 Regulates the
            Degradation of APP C-Terminal Fragments and the Levels of Abeta.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 369)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (residues 1 to 369)
  AUTHORS   Caltagarone,J., Rhodes,J., Honer,W.G. and Bowser,R.
  TITLE     Localization of a novel septin protein, hCDCrel-1, in neurons of
            human brain
  JOURNAL   Neuroreport 9 (12), 2907-2912 (1998)
   PUBMED   9760144
REFERENCE   6  (residues 1 to 369)
  AUTHORS   Yagi,M., Zieger,B., Roth,G.J. and Ware,J.
  TITLE     Structure and expression of the human septin gene HCDCREL-1
  JOURNAL   Gene 212 (2), 229-236 (1998)
   PUBMED   9611266
REFERENCE   7  (residues 1 to 369)
  AUTHORS   Hsu,S.C., Hazuka,C.D., Roth,R., Foletti,D.L., Heuser,J. and
            Scheller,R.H.
  TITLE     Subunit composition, protein interactions, and structures of the
            mammalian brain sec6/8 complex and septin filaments
  JOURNAL   Neuron 20 (6), 1111-1122 (1998)
   PUBMED   9655500
REFERENCE   8  (residues 1 to 369)
  AUTHORS   Megonigal,M.D., Rappaport,E.F., Jones,D.H., Williams,T.M.,
            Lovett,B.D., Kelly,K.M., Lerou,P.H., Moulton,T., Budarf,M.L. and
            Felix,C.A.
  TITLE     t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses
            MLL with hCDCrel, a cell division cycle gene in the genomic region
            of deletion in DiGeorge and velocardiofacial syndromes
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6413-6418 (1998)
   PUBMED   9600980
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1998 Aug 18;95(17):10344]
REFERENCE   9  (residues 1 to 369)
  AUTHORS   McKie,J.M., Sutherland,H.F., Harvey,E., Kim,U.J. and Scambler,P.J.
  TITLE     A human gene similar to Drosophila melanogaster peanut maps to the
            DiGeorge syndrome region of 22q11
  JOURNAL   Hum Genet 101 (1), 6-12 (1997)
   PUBMED   9385360
REFERENCE   10 (residues 1 to 369)
  AUTHORS   Zieger,B., Hashimoto,Y. and Ware,J.
  TITLE     Alternative expression of platelet glycoprotein Ib(beta) mRNA from
            an adjacent 5' gene with an imperfect polyadenylation signal
            sequence
  JOURNAL   J Clin Invest 99 (3), 520-525 (1997)
   PUBMED   9022087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025261.1.
            
            On Aug 30, 2000 this sequence version replaced NP_002679.1.
            
            Summary: This gene is a member of the septin gene 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
            mapped to 22q11, the region frequently deleted in DiGeorge and
            velocardiofacial syndromes. A translocation involving the MLL gene
            and this gene has also been reported in patients with acute myeloid
            leukemia. Alternative splicing results in multiple transcript
            variants. The presence of a non-consensus polyA signal (AACAAT) in
            this gene also results in read-through transcription into the
            downstream neighboring gene (GP1BB; platelet glycoprotein Ib),
            whereby larger, non-coding transcripts are produced. [provided by
            RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC025261.1, U74628.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000455784.7/ ENSP00000391311.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..369
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     Protein         1..369
                     /product="septin-5 isoform 1"
                     /EC_number="3.1.5.1"
                     /note="peanut-like 1; cell division control related
                     protein 1; platelet glycoprotein Ib beta chain"
                     /calculated_mol_wt=42646
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Q6; propagated from
                     UniProtKB/Swiss-Prot (Q99719.1)"
     Region          42..313
                     /region_name="Septin"
                     /note="pfam00735"
                     /db_xref="CDD:395596"
     Region          51..58
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99719.1)"
     Site            51..58
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206649"
     Site            order(53..59,108,111,189..190,192,248..249)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206649"
     Site            83..91
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            85
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Region          108..111
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99719.1)"
     Site            108..111
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            order(110..145,146..155)
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Site            168
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Q6; propagated from
                     UniProtKB/Swiss-Prot (Q99719.1)"
     Region          189..192
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q99719.1)"
     Site            189..192
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            225
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q99719.1)"
     Site            248..250
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q99719.1)"
     Site            336
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z2Q6; propagated from
                     UniProtKB/Swiss-Prot (Q99719.1)"
     CDS             1..369
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /coded_by="NM_002688.6:87..1196"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13764.1"
                     /db_xref="GeneID:5413"
                     /db_xref="HGNC:HGNC:9164"
                     /db_xref="MIM:602724"
ORIGIN      
        1 mstglryksk latpedkqdi dkqyvgfatl pnqvhrksvk kgfdftlmva gesglgkstl
       61 vhslfltdly kdrkllsaee risqtveilk htvdieekgv klkltivdtp gfgdavnnte
      121 cwkpitdyvd qqfeqyfrde sglnrkniqd nrvhcclyfi spfghglrpv dvgfmkalhe
      181 kvnivpliak adclvpseir klkerireei dkfgihvyqf pecdsdeded fkqqdrelke
      241 sapfavigsn tvveakgqrv rgrlypwgiv evenqahcdf vklrnmlirt hmhdlkdvtc
      301 dvhyenyrah ciqqmtsklt qdsrmespip ilplptpdae teklirmkde elrrmqemlq
      361 rmkqqmqdq
//
Feature
Display: FASTA GenBank Help
Details

Supplemental Content

Change region shown

Customize view

Reference sequence information

  • RefSeq mRNA
    See reference mRNA sequence for the SEPTIN5 gene (NM_002688.6).
  • RefSeq protein isoforms
    See the other reference sequence protein isoform for the SEPTIN5 gene (NP_001009939.1).

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.