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
//