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Protein

Septin-9

Gene

SEPT9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.By similarityCurated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei339GTPBy similarity1
Binding sitei365GTP; via amide nitrogenBy similarity1
Binding sitei501GTP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei516GTPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi305 – 312GTPBy similarity8
Nucleotide bindingi445 – 453GTPBy similarity9

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • GTPase activity Source: ProtInc
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell division Source: UniProtKB-KW
  • positive regulation of non-motile cilium assembly Source: GO_Central
  • protein heterooligomerization Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiQ9UHD8

Names & Taxonomyi

Protein namesi
Recommended name:
Septin-9
Alternative name(s):
MLL septin-like fusion protein MSF-A
Short name:
MLL septin-like fusion protein
Ovarian/Breast septin
Short name:
Ov/Br septin
Septin D1
Gene namesi
Name:SEPT9
Synonyms:KIAA0991, MSF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000184640.17
HGNCiHGNC:7323 SEPT9
MIMi604061 gene
neXtProtiNX_Q9UHD8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1.1 Publication
Hereditary neuralgic amyotrophy (HNA)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition.
See also OMIM:162100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033101106R → W in HNA. 4 PublicationsCorresponds to variant dbSNP:rs80338761Ensembl.1
Natural variantiVAR_033102111S → F in HNA. 3 PublicationsCorresponds to variant dbSNP:rs80338762Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10801
GeneReviewsiSEPT9
MalaCardsiSEPT9
MIMi162100 phenotype
OpenTargetsiENSG00000184640
Orphaneti2901 Neuralgic amyotrophy
PharmGKBiPA31132

Polymorphism and mutation databases

BioMutaiSEPT9
DMDMi93141311

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001735351 – 586Septin-9Add BLAST586

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei22PhosphoserineCombined sources1
Modified residuei30PhosphoserineCombined sources1
Modified residuei38PhosphothreonineCombined sources1
Modified residuei42PhosphothreonineCombined sources1
Modified residuei49PhosphothreonineCombined sources1
Modified residuei62N6-acetyllysineBy similarity1
Modified residuei82PhosphoserineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei89PhosphoserineCombined sources1
Modified residuei96PhosphoserineCombined sources1
Modified residuei142PhosphothreonineCombined sources1
Modified residuei278PhosphotyrosineCombined sources1
Modified residuei327PhosphoserineCombined sources1
Modified residuei332PhosphoserineCombined sources1
Isoform 3 (identifier: Q9UHD8-3)
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UHD8
PaxDbiQ9UHD8
PeptideAtlasiQ9UHD8
PRIDEiQ9UHD8

PTM databases

CarbonylDBiQ9UHD8
iPTMnetiQ9UHD8
PhosphoSitePlusiQ9UHD8
SwissPalmiQ9UHD8

Expressioni

Tissue specificityi

Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart, spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate tissue specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in approximately half of the fetal tissues.4 Publications

Gene expression databases

BgeeiENSG00000184640
CleanExiHS_SEPT9
ExpressionAtlasiQ9UHD8 baseline and differential
GenevisibleiQ9UHD8 HS

Organism-specific databases

HPAiHPA042564
HPA050627

Interactioni

Subunit structurei

Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments, and microtubules. GTPase activity is required for filament formation. Interacts with SEPT2, SEPT6, SEPT7, SEPT11 and SEPT14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell line, Rho/RTKN signals cause disruption of wild-type septin filaments, but not of those containing isoform 2 variants HNA Trp-106 and Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not wild type, form filaments with SEPT4.6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116015, 65 interactors
CORUMiQ9UHD8
DIPiDIP-36697N
IntActiQ9UHD8, 28 interactors
MINTiQ9UHD8
STRINGi9606.ENSP00000391249

Structurei

Secondary structure

1586
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi297 – 305Combined sources9
Helixi311 – 322Combined sources12
Beta strandi343 – 351Combined sources9
Beta strandi354 – 362Combined sources9
Beta strandi369 – 371Combined sources3
Turni373 – 376Combined sources4
Helixi377 – 395Combined sources19
Beta strandi410 – 415Combined sources6
Beta strandi419 – 421Combined sources3
Helixi424 – 434Combined sources11
Beta strandi437 – 443Combined sources7
Helixi446 – 448Combined sources3
Helixi451 – 467Combined sources17
Beta strandi472 – 474Combined sources3
Helixi476 – 478Combined sources3
Helixi482 – 494Combined sources13
Beta strandi496 – 498Combined sources3
Beta strandi503 – 508Combined sources6
Beta strandi511 – 517Combined sources7
Beta strandi522 – 524Combined sources3
Turni528 – 530Combined sources3
Helixi533 – 539Combined sources7
Helixi542 – 554Combined sources13
Helixi556 – 567Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YQFX-ray2.73A/B296-565[»]
5CYOX-ray2.04A/B295-568[»]
5CYPX-ray2.89A/B/C/D293-566[»]
ProteinModelPortaliQ9UHD8
SMRiQ9UHD8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini295 – 567Septin-type GPROSITE-ProRule annotationAdd BLAST273

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni305 – 312G1 motifPROSITE-ProRule annotation8
Regioni362 – 365G3 motifPROSITE-ProRule annotation4
Regioni444 – 447G4 motifPROSITE-ProRule annotation4

Sequence similaritiesi

Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1547 Eukaryota
COG5019 LUCA
GeneTreeiENSGT00910000144020
HOVERGENiHBG098529
InParanoidiQ9UHD8
KOiK16938
OMAiTKWGFVE
OrthoDBiEOG091G08V5
PhylomeDBiQ9UHD8
TreeFamiTF101078

Family and domain databases

CDDicd01850 CDC_Septin, 1 hit
InterProiView protein in InterPro
IPR030379 G_SEPTIN_dom
IPR027417 P-loop_NTPase
IPR030645 SEPT9
IPR016491 Septin
PANTHERiPTHR18884:SF47 PTHR18884:SF47, 1 hit
PfamiView protein in Pfam
PF00735 Septin, 1 hit
PIRSFiPIRSF006698 Septin, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51719 G_SEPTIN, 1 hit

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Note: There are potentially 18 isoforms.
Isoform 1 (identifier: Q9UHD8-1) [UniParc]FASTAAdd to basket
Also known as: Epsilon, MSF-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKKSYSGGTR TSSGRLRRLG DSSGPALKRS FEVEEVETPN STPPRRVQTP
60 70 80 90 100
LLRATVASST QKFQDLGVKN SEPSARHVDS LSQRSPKASL RRVELSGPKA
110 120 130 140 150
AEPVSRRTEL SIDISSKQVE NAGAIGPSRF GLKRAEVLGH KTPEPAPRRT
160 170 180 190 200
EITIVKPQES AHRRMEPPAS KVPEVPTAPA TDAAPKRVEI QMPKPAEAPT
210 220 230 240 250
APSPAQTLEN SEPAPVSQLQ SRLEPKPQPP VAEATPRSQE ATEAAPSCVG
260 270 280 290 300
DMADTPRDAG LKQAPASRNE KAPVDFGYVG IDSILEQMRR KAMKQGFEFN
310 320 330 340 350
IMVVGQSGLG KSTLINTLFK SKISRKSVQP TSEERIPKTI EIKSITHDIE
360 370 380 390 400
EKGVRMKLTV IDTPGFGDHI NNENCWQPIM KFINDQYEKY LQEEVNINRK
410 420 430 440 450
KRIPDTRVHC CLYFIPATGH SLRPLDIEFM KRLSKVVNIV PVIAKADTLT
460 470 480 490 500
LEERVHFKQR ITADLLSNGI DVYPQKEFDE DSEDRLVNEK FREMIPFAVV
510 520 530 540 550
GSDHEYQVNG KRILGRKTKW GTIEVENTTH CEFAYLRDLL IRTHMQNIKD
560 570 580
ITSSIHFEAY RVKRLNEGSS AMANGMEEKE PEAPEM
Length:586
Mass (Da):65,401
Last modified:April 18, 2006 - v2
Checksum:iD4404578328CFCFE
GO
Isoform 2 (identifier: Q9UHD8-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MKKSYSGGTRTSSGRLRRLGDSSGP → MERDRIS

Show »
Length:568
Mass (Da):63,666
Checksum:i47A03DD79B5D6147
GO
Isoform 3 (identifier: Q9UHD8-3) [UniParc]FASTAAdd to basket
Also known as: Beta, MSF-B

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.

Show »
Length:422
Mass (Da):47,501
Checksum:iF581FB2EA1A6E063
GO
Isoform 4 (identifier: Q9UHD8-4) [UniParc]FASTAAdd to basket
Also known as: Delta

The sequence of this isoform differs from the canonical sequence as follows:
     1-251: Missing.

Show »
Length:335
Mass (Da):38,518
Checksum:i82375B44AEFFC64C
GO
Isoform 5 (identifier: Q9UHD8-5) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MKKSYSGGTRTSSGRLRRLGDSSGP → MSDPAVNAQLDGIISDFE

Show »
Length:579
Mass (Da):64,682
Checksum:iF176A071496AC44C
GO
Isoform 7 (identifier: Q9UHD8-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-25: Missing.

Note: No experimental confirmation available.
Show »
Length:567
Mass (Da):63,502
Checksum:i73741167A05AA0E1
GO
Isoform 8 (identifier: Q9UHD8-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-112: Missing.
     113-240: DISSKQVENA...VAEATPRSQE → MGSSFWEGLQ...CLATIGSDRQ

Note: No experimental confirmation available.
Show »
Length:474
Mass (Da):52,913
Checksum:i5B5DCF81F2D1A597
GO
Isoform 9 (identifier: Q9UHD8-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-224: Missing.
     225-240: PKPQPPVAEATPRSQE → MAGAGCTGTWSWLWGT

Note: No experimental confirmation available.
Show »
Length:362
Mass (Da):41,187
Checksum:i5530A4184F432A5C
GO

Sequence cautioni

The sequence BAB14057 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti251D → G in BAG64494 (PubMed:14702039).Curated1
Sequence conflicti487V → E in BAB14057 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02066776R → C1 PublicationCorresponds to variant dbSNP:rs202079794Ensembl.1
Natural variantiVAR_033101106R → W in HNA. 4 PublicationsCorresponds to variant dbSNP:rs80338761Ensembl.1
Natural variantiVAR_033102111S → F in HNA. 3 PublicationsCorresponds to variant dbSNP:rs80338762Ensembl.1
Natural variantiVAR_020668145P → L3 PublicationsCorresponds to variant dbSNP:rs34587622Ensembl.1
Natural variantiVAR_020669576M → V10 PublicationsCorresponds to variant dbSNP:rs2627223Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0123351 – 251Missing in isoform 4. 2 PublicationsAdd BLAST251
Alternative sequenceiVSP_0383151 – 224Missing in isoform 9. 1 PublicationAdd BLAST224
Alternative sequenceiVSP_0123361 – 164Missing in isoform 3. 4 PublicationsAdd BLAST164
Alternative sequenceiVSP_0383161 – 112Missing in isoform 8. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_0123371 – 25MKKSY…DSSGP → MERDRIS in isoform 2. 5 PublicationsAdd BLAST25
Alternative sequenceiVSP_0123381 – 25MKKSY…DSSGP → MSDPAVNAQLDGIISDFE in isoform 5. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_0383177 – 25Missing in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_038318113 – 240DISSK…PRSQE → MGSSFWEGLQVAVGLPQGCW PQGLDSGEPAEGGQLEAAPV CIVTRQSKETAGPTLGRGGW RQGSLRRGKGTSCRCRQLSP GHGPGRLTGCGECHRLPCRG LVSGFTGLRGQEEDDLAFCL ATIGSDRQ in isoform 8. 1 PublicationAdd BLAST128
Alternative sequenceiVSP_038319225 – 240PKPQP…PRSQE → MAGAGCTGTWSWLWGT in isoform 9. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF123052 mRNA Translation: AAD39749.1
AJ312319 mRNA Translation: CAC42221.1
AJ312320 mRNA Translation: CAC42222.1
AJ312321 mRNA Translation: CAC42223.1
AJ312322 mRNA Translation: CAC42224.1
AF189712 mRNA Translation: AAF23373.1
AF189713 mRNA Translation: AAF23374.1
AF142408 mRNA Translation: AAG27919.1
AK022493 mRNA Translation: BAB14057.1 Sequence problems.
AK290368 mRNA Translation: BAF83057.1
AK056495 mRNA Translation: BAG51732.1
AK300270 mRNA Translation: BAG62031.1
AK303449 mRNA Translation: BAG64494.1
AK304143 mRNA Translation: BAG65036.1
AK299828 mRNA Translation: BAH13140.1
AK316473 mRNA Translation: BAH14844.1
BT007215 mRNA Translation: AAP35879.1
CH471099 Genomic DNA Translation: EAW89462.1
CH471099 Genomic DNA Translation: EAW89463.1
CH471099 Genomic DNA Translation: EAW89468.1
BC021192 mRNA Translation: AAH21192.1
BC054004 mRNA Translation: AAH54004.1
AB023208 mRNA Translation: BAA76835.2
AL080131 mRNA Translation: CAB45728.1
CCDSiCCDS45790.1 [Q9UHD8-1]
CCDS45791.1 [Q9UHD8-2]
CCDS45792.1 [Q9UHD8-5]
CCDS45793.1 [Q9UHD8-3]
CCDS45794.1 [Q9UHD8-8]
CCDS45795.1 [Q9UHD8-4]
CCDS74166.1 [Q9UHD8-9]
CCDS77122.1 [Q9UHD8-7]
PIRiT12519
RefSeqiNP_001106963.1, NM_001113491.1 [Q9UHD8-1]
NP_001106964.1, NM_001113492.1 [Q9UHD8-3]
NP_001106965.1, NM_001113493.1 [Q9UHD8-5]
NP_001106966.1, NM_001113494.1 [Q9UHD8-3]
NP_001106967.1, NM_001113495.1 [Q9UHD8-8]
NP_001106968.1, NM_001113496.1 [Q9UHD8-4]
NP_001280624.1, NM_001293695.1 [Q9UHD8-7]
NP_001280625.1, NM_001293696.1 [Q9UHD8-9]
NP_001280626.1, NM_001293697.1 [Q9UHD8-4]
NP_001280627.1, NM_001293698.1 [Q9UHD8-4]
NP_006631.2, NM_006640.4 [Q9UHD8-2]
XP_005257019.1, XM_005256962.1 [Q9UHD8-4]
XP_006721706.1, XM_006721643.2 [Q9UHD8-3]
XP_006721707.1, XM_006721644.1 [Q9UHD8-4]
XP_011522509.1, XM_011524207.1 [Q9UHD8-3]
XP_011522510.1, XM_011524208.2 [Q9UHD8-4]
XP_016879520.1, XM_017024031.1 [Q9UHD8-4]
XP_016879521.1, XM_017024032.1 [Q9UHD8-4]
UniGeneiHs.440932

Genome annotation databases

EnsembliENST00000329047; ENSP00000329161; ENSG00000184640 [Q9UHD8-2]
ENST00000423034; ENSP00000405877; ENSG00000184640 [Q9UHD8-5]
ENST00000427177; ENSP00000391249; ENSG00000184640 [Q9UHD8-1]
ENST00000427180; ENSP00000415624; ENSG00000184640 [Q9UHD8-8]
ENST00000427674; ENSP00000403194; ENSG00000184640 [Q9UHD8-3]
ENST00000431235; ENSP00000406987; ENSG00000184640 [Q9UHD8-3]
ENST00000449803; ENSP00000400181; ENSG00000184640 [Q9UHD8-3]
ENST00000541152; ENSP00000438089; ENSG00000184640 [Q9UHD8-4]
ENST00000585930; ENSP00000468120; ENSG00000184640 [Q9UHD8-9]
ENST00000588690; ENSP00000468668; ENSG00000184640 [Q9UHD8-3]
ENST00000590294; ENSP00000465464; ENSG00000184640 [Q9UHD8-2]
ENST00000591088; ENSP00000466247; ENSG00000184640 [Q9UHD8-4]
ENST00000591198; ENSP00000468406; ENSG00000184640 [Q9UHD8-7]
ENST00000592951; ENSP00000466648; ENSG00000184640 [Q9UHD8-4]
GeneIDi10801
KEGGihsa:10801
UCSCiuc002jts.5 human [Q9UHD8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSEPT9_HUMAN
AccessioniPrimary (citable) accession number: Q9UHD8
Secondary accession number(s): A8K2V3
, B3KPM0, B4DTL9, B4E0N2, B4E274, B7Z654, Q96QF3, Q96QF4, Q96QF5, Q9HA04, Q9UG40, Q9Y5W4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: April 18, 2006
Last modified: May 23, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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