LOCUS       NP_001106963             586 aa            linear   PRI 27-APR-2025
DEFINITION  septin-9 isoform a [Homo sapiens].
ACCESSION   NP_001106963
VERSION     NP_001106963.1
DBSOURCE    REFSEQ: accession NM_001113491.2
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 586)
  AUTHORS   Wang,W., Zhang,X., Gui,P., Zou,Q., Nie,Y., Ma,S. and Zhang,S.
  TITLE     SEPT9: From pan-cancer to lung squamous cell carcinoma
  JOURNAL   BMC Cancer 24 (1), 1105 (2024)
   PUBMED   39237897
  REMARK    GeneRIF: SEPT9: From pan-cancer to lung squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 586)
  AUTHORS   Yan,Z., Liu,H. and Wang,K.
  TITLE     Diagnostic efficacy of SEPT9 and PAX5 gene methylation in
            gastrointestinal cancer and precancerous lesions
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (7), 128-133 (2024)
   PUBMED   39097885
  REMARK    GeneRIF: Diagnostic efficacy of SEPT9 and PAX5 gene methylation in
            gastrointestinal cancer and precancerous lesions.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 586)
  AUTHORS   Hecht,M., Alber,N., Marhoffer,P., Johnsson,N. and Gronemeyer,T.
  TITLE     The concerted action of SEPT9 and EPLIN modulates the adhesion and
            migration of human fibroblasts
  JOURNAL   Life Sci Alliance 7 (7), e202201686 (2024)
   PUBMED   38719752
  REMARK    GeneRIF: The concerted action of SEPT9 and EPLIN modulates the
            adhesion and migration of human fibroblasts.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 586)
  AUTHORS   McDade,S.S., Hall,P.A. and Russell,S.E.
  TITLE     Translational control of SEPT9 isoforms is perturbed in disease
  JOURNAL   Hum Mol Genet 16 (7), 742-752 (2007)
   PUBMED   17468182
REFERENCE   5  (residues 1 to 586)
  AUTHORS   Burrows,J.F., Chanduloy,S., McIlhatton,M.A., Nagar,H., Yeates,K.,
            Donaghy,P., Price,J., Godwin,A.K., Johnston,P.G. and Russell,S.E.
  TITLE     Altered expression of the septin gene, SEPT9, in ovarian neoplasia
  JOURNAL   J Pathol 201 (4), 581-588 (2003)
   PUBMED   14648661
REFERENCE   6  (residues 1 to 586)
  AUTHORS   McIlhatton,M.A., Burrows,J.F., Donaghy,P.G., Chanduloy,S.,
            Johnston,P.G. and Russell,S.E.
  TITLE     Genomic organization, complex splicing pattern and expression of a
            human septin gene on chromosome 17q25.3
  JOURNAL   Oncogene 20 (41), 5930-5939 (2001)
   PUBMED   11593400
  REMARK    GeneRIF: Describes alternative splicing of this gene.
REFERENCE   7  (residues 1 to 586)
  AUTHORS   Taki,T., Ohnishi,H., Shinohara,K., Sako,M., Bessho,F.,
            Yanagisawa,M. and Hayashi,Y.
  TITLE     AF17q25, a putative septin family gene, fuses the MLL gene in acute
            myeloid leukemia with t(11;17)(q23;q25)
  JOURNAL   Cancer Res 59 (17), 4261-4265 (1999)
   PUBMED   10485469
REFERENCE   8  (residues 1 to 586)
  AUTHORS   Osaka,M., Rowley,J.D. and Zeleznik-Le,N.J.
  TITLE     MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a
            therapy-related acute myeloid leukemia with a t(11;17)(q23;q25)
  JOURNAL   Proc Natl Acad Sci U S A 96 (11), 6428-6433 (1999)
   PUBMED   10339604
REFERENCE   9  (residues 1 to 586)
  AUTHORS   Pellegrino,J.E., George,R.A., Biegel,J., Farlow,M.R., Gardner,K.,
            Caress,J., Brown,M.J., Rebbeck,T.R., Bird,T.D. and Chance,P.F.
  TITLE     Hereditary neuralgic amyotrophy: evidence for genetic homogeneity
            and mapping to chromosome 17q25
  JOURNAL   Hum Genet 101 (3), 277-283 (1997)
   PUBMED   9439655
REFERENCE   10 (residues 1 to 586)
  AUTHORS   van Alfen,N., Hannibal,M.C., Chance,P.F. and van Engelen,B.G.M.
  TITLE     Hereditary Neuralgic Amyotrophy - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068594.15, AC111182.21 and
            AC111170.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is a member of the septin family involved in
            cytokinesis and cell cycle control. This gene is a candidate for
            the ovarian tumor suppressor gene. Mutations in this gene cause
            hereditary neuralgic amyotrophy, also known as neuritis with
            brachial predilection. A chromosomal translocation involving this
            gene on chromosome 17 and the MLL gene on chromosome 11 results in
            acute myelomonocytic leukemia. Multiple alternatively spliced
            transcript variants encoding different isoforms have been
            described.[provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1, also known as epsilon) encodes
            the longest isoform (a).
            
            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 :: AF189713.3, SRR14038197.1467570.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427177.6/ ENSP00000391249.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..586
                     /product="septin-9 isoform a"
                     /note="septin D1; ovarian/breast septin; Ov/Br septin; MLL
                     septin-like fusion protein MSF-A; peanut-like 4"
                     /calculated_mol_wt=65271
     Region          1..49
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            22
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            30
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            38
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Region          <39..247
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Site            42
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            49
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Region          62..108
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            62
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q80UG5; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            82
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            85
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            89
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            96
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Region          134..268
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            142
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Region          150..>278
                     /region_name="PHA03269"
                     /note="envelope glycoprotein C; Provisional"
                     /db_xref="CDD:165527"
     Site            278
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Region          295..569
                     /region_name="CDC_Septin"
                     /note="CDC/Septin GTPase family; cd01850"
                     /db_xref="CDD:206649"
     Region          305..312
                     /region_name="G1 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            305..312
                     /site_type="other"
                     /note="G1 box"
                     /db_xref="CDD:206649"
     Site            order(307..313,362,365,444..445,447,501..502)
                     /site_type="other"
                     /note="GTP/Mg2+ binding site [chemical binding]"
                     /db_xref="CDD:206649"
     Site            327
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            332
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            337..345
                     /site_type="other"
                     /note="Switch I region"
                     /db_xref="CDD:206649"
     Site            339
                     /site_type="other"
                     /note="G2 box"
                     /db_xref="CDD:206649"
     Region          362..365
                     /region_name="G3 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            362..365
                     /site_type="other"
                     /note="G3 box"
                     /db_xref="CDD:206649"
     Site            364..410
                     /site_type="other"
                     /note="Switch II region"
                     /db_xref="CDD:206649"
     Region          444..447
                     /region_name="G4 motif.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU01056"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UHD8.2)"
     Site            444..447
                     /site_type="other"
                     /note="G4 box"
                     /db_xref="CDD:206649"
     Site            501..503
                     /site_type="other"
                     /note="G5 box"
                     /db_xref="CDD:206649"
     CDS             1..586
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /coded_by="NM_001113491.2:38..1798"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45790.1"
                     /db_xref="GeneID:10801"
                     /db_xref="HGNC:HGNC:7323"
                     /db_xref="MIM:604061"
ORIGIN      
        1 mkksysggtr tssgrlrrlg dssgpalkrs feveevetpn stpprrvqtp llratvasst
       61 qkfqdlgvkn sepsarhvds lsqrspkasl rrvelsgpka aepvsrrtel sidisskqve
      121 nagaigpsrf glkraevlgh ktpepaprrt eitivkpqes ahrrmeppas kvpevptapa
      181 tdaapkrvei qmpkpaeapt apspaqtlen sepapvsqlq srlepkpqpp vaeatprsqe
      241 ateaapscvg dmadtprdag lkqapasrne kapvdfgyvg idsileqmrr kamkqgfefn
      301 imvvgqsglg kstlintlfk skisrksvqp tseeripkti eiksithdie ekgvrmkltv
      361 idtpgfgdhi nnencwqpim kfindqyeky lqeevninrk kripdtrvhc clyfipatgh
      421 slrpldiefm krlskvvniv pviakadtlt leervhfkqr itadllsngi dvypqkefde
      481 dsedrlvnek fremipfavv gsdheyqvng krilgrktkw gtieventth cefaylrdll
      541 irthmqnikd itssihfeay rvkrlnegss amangmeeke peapem
//
