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Q9UHD8

- SEPT9_HUMAN

UniProt

Q9UHD8 - SEPT9_HUMAN

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Protein

Septin-9

Gene

SEPT9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei339 – 3391GTPBy similarity
Binding sitei365 – 3651GTP; via amide nitrogenBy similarity
Binding sitei501 – 5011GTP; via amide nitrogen and carbonyl oxygenBy similarity
Binding sitei516 – 5161GTPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi305 – 3128GTPBy similarity
Nucleotide bindingi445 – 4539GTPBy similarity

GO - Molecular functioni

  1. GTPase activity Source: ProtInc
  2. GTP binding Source: UniProtKB-KW

GO - Biological processi

  1. cell cycle Source: UniProtKB-KW
  2. cell division Source: UniProtKB-KW
  3. GTP catabolic process Source: GOC
  4. protein heterooligomerization Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division

Keywords - Ligandi

GTP-binding, Nucleotide-binding

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:7323. SEPT9.

Subcellular locationi

Cytoplasmcytoskeleton 2 Publications
Note: In an epithelial cell line, concentrates at cell-cell contact areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actin stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.

GO - Cellular componenti

  1. actin cytoskeleton Source: HPA
  2. cytoplasm Source: ProtInc
  3. microtubule Source: UniProtKB
  4. perinuclear region of cytoplasm Source: UniProtKB
  5. stress fiber Source: UniProtKB
Complete GO annotation...

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) [MIM:162100]: Autosomal 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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → W in HNA. 4 Publications
VAR_033101
Natural varianti111 – 1111S → F in HNA. 3 Publications
VAR_033102

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi162100. phenotype.
Orphaneti2901. Neuralgic amyotrophy.
PharmGKBiPA31132.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 586586Septin-9PRO_0000173535Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei30 – 301Phosphoserine6 Publications
Modified residuei38 – 381Phosphothreonine1 Publication
Modified residuei42 – 421Phosphothreonine2 Publications
Modified residuei62 – 621N6-acetyllysineBy similarity
Modified residuei82 – 821Phosphoserine1 Publication
Modified residuei85 – 851Phosphoserine3 Publications
Modified residuei96 – 961Phosphoserine1 Publication
Modified residuei142 – 1421Phosphothreonine1 Publication
Modified residuei278 – 2781Phosphotyrosine1 Publication
Modified residuei327 – 3271Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9UHD8.
PaxDbiQ9UHD8.
PRIDEiQ9UHD8.

PTM databases

PhosphoSiteiQ9UHD8.

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

BgeeiQ9UHD8.
CleanExiHS_SEPT9.
ExpressionAtlasiQ9UHD8. baseline and differential.
GenevestigatoriQ9UHD8.

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

WithEntry#Exp.IntActNotes
HIF1AQ166654EBI-851558,EBI-447269
SEPT14Q6ZU153EBI-851569,EBI-2009297

Protein-protein interaction databases

BioGridi116015. 47 interactions.
DIPiDIP-36697N.
IntActiQ9UHD8. 8 interactions.
MINTiMINT-5006676.

Structurei

3D structure databases

ProteinModelPortaliQ9UHD8.
SMRiQ9UHD8. Positions 297-565.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini295 – 567273Septin-type GAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5019.
GeneTreeiENSGT00760000118899.
HOVERGENiHBG098529.
InParanoidiQ9UHD8.
KOiK16938.
OMAiFWTIPKE.
PhylomeDBiQ9UHD8.
TreeFamiTF101078.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR000038. Cell_div_GTP-bd.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR18884. PTHR18884. 1 hit.
PfamiPF00735. Septin. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51719. G_SEPTIN. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. Align

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 BAB14057.1 differs from that shown. Reason: Aberrant splicing.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti251 – 2511D → G in BAG64494. (PubMed:14702039)Curated
Sequence conflicti487 – 4871V → E in BAB14057. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761R → C.1 Publication
VAR_020667
Natural varianti106 – 1061R → W in HNA. 4 Publications
VAR_033101
Natural varianti111 – 1111S → F in HNA. 3 Publications
VAR_033102
Natural varianti145 – 1451P → L.3 Publications
Corresponds to variant rs34587622 [ dbSNP | Ensembl ].
VAR_020668
Natural varianti576 – 5761M → V.10 Publications
Corresponds to variant rs2627223 [ dbSNP | Ensembl ].
VAR_020669

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 251251Missing in isoform 4. 2 PublicationsVSP_012335Add
BLAST
Alternative sequencei1 – 224224Missing in isoform 9. 1 PublicationVSP_038315Add
BLAST
Alternative sequencei1 – 164164Missing in isoform 3. 4 PublicationsVSP_012336Add
BLAST
Alternative sequencei1 – 112112Missing in isoform 8. 1 PublicationVSP_038316Add
BLAST
Alternative sequencei1 – 2525MKKSY…DSSGP → MERDRIS in isoform 2. 5 PublicationsVSP_012337Add
BLAST
Alternative sequencei1 – 2525MKKSY…DSSGP → MSDPAVNAQLDGIISDFE in isoform 5. 2 PublicationsVSP_012338Add
BLAST
Alternative sequencei7 – 2519Missing in isoform 7. 1 PublicationVSP_038317Add
BLAST
Alternative sequencei113 – 240128DISSK…PRSQE → MGSSFWEGLQVAVGLPQGCW PQGLDSGEPAEGGQLEAAPV CIVTRQSKETAGPTLGRGGW RQGSLRRGKGTSCRCRQLSP GHGPGRLTGCGECHRLPCRG LVSGFTGLRGQEEDDLAFCL ATIGSDRQ in isoform 8. 1 PublicationVSP_038318Add
BLAST
Alternative sequencei225 – 24016PKPQP…PRSQE → MAGAGCTGTWSWLWGT in isoform 9. 1 PublicationVSP_038319Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
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_005257017.1. XM_005256960.1. [Q9UHD8-4]
XP_005257019.1. XM_005256962.1. [Q9UHD8-4]
XP_006721706.1. XM_006721643.1. [Q9UHD8-3]
XP_006721707.1. XM_006721644.1. [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.4. human. [Q9UHD8-1]
uc002jtu.4. human. [Q9UHD8-2]
uc002jtv.3. human. [Q9UHD8-5]
uc010dhd.3. human. [Q9UHD8-8]
uc010wtk.2. human. [Q9UHD8-7]
uc010wtl.2. human. [Q9UHD8-9]

Polymorphism databases

DMDMi93141311.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS45790.1. [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 ]
PIRi T12519.
RefSeqi NP_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_005257017.1. XM_005256960.1. [Q9UHD8-4 ]
XP_005257019.1. XM_005256962.1. [Q9UHD8-4 ]
XP_006721706.1. XM_006721643.1. [Q9UHD8-3 ]
XP_006721707.1. XM_006721644.1. [Q9UHD8-4 ]
UniGenei Hs.440932.

3D structure databases

ProteinModelPortali Q9UHD8.
SMRi Q9UHD8. Positions 297-565.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116015. 47 interactions.
DIPi DIP-36697N.
IntActi Q9UHD8. 8 interactions.
MINTi MINT-5006676.

PTM databases

PhosphoSitei Q9UHD8.

Polymorphism databases

DMDMi 93141311.

Proteomic databases

MaxQBi Q9UHD8.
PaxDbi Q9UHD8.
PRIDEi Q9UHD8.

Protocols and materials databases

DNASUi 10801.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329047 ; 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 ]
GeneIDi 10801.
KEGGi hsa:10801.
UCSCi uc002jts.4. human. [Q9UHD8-1 ]
uc002jtu.4. human. [Q9UHD8-2 ]
uc002jtv.3. human. [Q9UHD8-5 ]
uc010dhd.3. human. [Q9UHD8-8 ]
uc010wtk.2. human. [Q9UHD8-7 ]
uc010wtl.2. human. [Q9UHD8-9 ]

Organism-specific databases

CTDi 10801.
GeneCardsi GC17P075277.
GeneReviewsi SEPT9.
HGNCi HGNC:7323. SEPT9.
HPAi HPA042564.
HPA050627.
MIMi 162100. phenotype.
604061. gene.
neXtProti NX_Q9UHD8.
Orphaneti 2901. Neuralgic amyotrophy.
PharmGKBi PA31132.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5019.
GeneTreei ENSGT00760000118899.
HOVERGENi HBG098529.
InParanoidi Q9UHD8.
KOi K16938.
OMAi FWTIPKE.
PhylomeDBi Q9UHD8.
TreeFami TF101078.

Miscellaneous databases

ChiTaRSi SEPT9. human.
GeneWikii SEPT9.
GenomeRNAii 10801.
NextBioi 41021.
PROi Q9UHD8.
SOURCEi Search...

Gene expression databases

Bgeei Q9UHD8.
CleanExi HS_SEPT9.
ExpressionAtlasi Q9UHD8. baseline and differential.
Genevestigatori Q9UHD8.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR000038. Cell_div_GTP-bd.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR18884. PTHR18884. 1 hit.
Pfami PF00735. Septin. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS51719. G_SEPTIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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)."
    Osaka M., Rowley J.D., Zeleznik-Le N.J.
    Proc. Natl. Acad. Sci. U.S.A. 96:6428-6433(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT VAL-576, TISSUE SPECIFICITY, DISEASE, CHROMOSOMAL TRANSLOCATION.
  2. "Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors."
    Russell S.E.H., McIlhatton M.A., Burrows J.F., Donaghy P.G., Chanduloy S., Petty E.M., Kalikin L.M., Church S.W., McIlroy S., Harkin D.P., Keilty G.W., Cranston A.N., Weissenbach J., Hickey I., Johnston P.G.
    Cancer Res. 60:4729-4734(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 5), VARIANTS CYS-76; LEU-145 AND VAL-576.
  3. "Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors."
    Kalikin L.M., Sims H.L., Petty E.M.
    Genomics 63:165-172(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT VAL-576, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
  4. "Novel human cell division control protein septin D1."
    Zhang W., He L., Wan T., Yuan Z., Zhu X., Cao X.
    Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT VAL-576.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4; 5; 7; 8 AND 9), VARIANTS LEU-145 AND VAL-576.
    Tissue: Fetal brain, Mammary gland, Placenta, Teratocarcinoma, Thymus, Tongue and Trachea.
  6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-576.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT VAL-576.
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT VAL-576.
    Tissue: Eye and Skin.
  9. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-586, VARIANT VAL-576.
    Tissue: Brain.
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 353-586, VARIANT VAL-576.
    Tissue: Testis.
  11. "Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3."
    McIlhatton M.A., Burrows J.F., Donaghy P.G., Chanduloy S., Johnston P.G., Russell S.E.
    Oncogene 20:5930-5939(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
  12. "Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11."
    Nagata K., Asano T., Nozawa Y., Inagaki M.
    J. Biol. Chem. 279:55895-55904(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SEPT7 AND SEPT11.
  13. "Expression profiling the human septin gene family."
    Hall P.A., Jung K., Hillan K.J., Russell S.E.H.
    J. Pathol. 206:269-278(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  14. "Cytoskeletal modification of Rho guanine nucleotide exchange factor activity: identification of a Rho guanine nucleotide exchange factor as a binding partner for Sept9b, a mammalian septin."
    Nagata K., Inagaki M.
    Oncogene 24:65-76(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ARHGEF18.
  15. "Possible role of Rho/Rhotekin signaling in mammalian septin organization."
    Ito H., Iwamoto I., Morishita R., Nozawa Y., Narumiya S., Asano T., Nagata K.
    Oncogene 24:7064-7072(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RTKN.
  16. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-85, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30 AND THR-42, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  18. "SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling."
    Sudo K., Ito H., Iwamoto I., Morishita R., Asano T., Nagata K.
    Hum. Mutat. 28:1005-1013(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SEPT4, VARIANTS HNA TRP-106 AND PHE-111.
  19. "Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin."
    Peterson E.A., Kalikin L.M., Steels J.D., Estey M.P., Trimble W.S., Petty E.M.
    Mamm. Genome 18:796-807(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SEPT14, SUBCELLULAR LOCATION.
  20. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  21. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; THR-38 AND THR-42, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  22. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. Cited for: INTERACTION WITH SEPT2; SEPT6; SEPT7 AND SEPT11, ASSOCIATION WITH ACTIN FILAMENTS AND MICROTUBULES.
  24. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30 AND TYR-278, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  25. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; SER-82; SER-85; SER-96 AND THR-142, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  26. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  27. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30; SER-85 AND SER-327, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  28. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  29. Cited for: VARIANTS HNA TRP-106 AND PHE-111.
  30. "Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation -- a family study."
    Laccone F., Hannibal M.C., Neesen J., Grisold W., Chance P.F., Rehder H.
    Clin. Genet. 74:279-283(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HNA TRP-106.
  31. Cited for: VARIANTS HNA TRP-106 AND PHE-111, VARIANT LEU-145.

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 historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: April 18, 2006
Last modified: October 29, 2014
This is version 134 of the entry and version 2 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3