Q99719 (SEPT5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Septin-5

Alternative name(s):
Cell division control-related protein 1
Short name=CDCrel-1
Peanut-like protein 1

Gene names

Name:	SEPT5
Synonyms:	PNUTL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	369 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Filament-forming cytoskeletal GTPase By similarity. May play a role in cytokinesis Potential. May play a role in platelet secretion By similarity.
Subunit structure	Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation By similarity. Interacts with SEPT2 and SEPT5. In platelets, associated with a complex containing STX4. Interacts with PARK2. This interaction leads to SEPT5 ubiquitination and degradation By similarity. Ref.10 Ref.11
Subcellular location	Cytoplasm By similarity. Cytoplasm › cytoskeleton By similarity. Note: In platelets, found in areas surrounding alpha-granules.
Tissue specificity	Expressed at high levels in the CNS, as well as in heart and platelets (at protein level). Ref.10 Ref.13
Post-translational modification	In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen. Ref.11
Miscellaneous	In a heterologous system, SEPT5 overexpression has been shown to exert dopamine-dependent neurotoxicity. As wild-type PARK2, but not familial-linked PARK2 mutants, ubiquitinates mouse SEPT5 and promotes its degradation, it has been sugested that a deficiency in SEPT5 degradation may contribute to the development of early onset Parkinson disease 2 (PARK2).
Sequence similarities	Belongs to the septin family.

Ontologies

Keywords
Biological process	Cell cycle Cell division
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Ligand	GTP-binding Nucleotide-binding
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW cytokinesis Traceable author statement Ref.3. Source: ProtInc regulation of exocytosis Inferred from mutant phenotype PubMed 10321247. Source: UniProtKB synaptic vesicle targeting Traceable author statement PubMed 10321247. Source: UniProtKB
Cellular_component	plasma membrane Inferred from direct assay PubMed 10321247. Source: UniProtKB septin complex Inferred from electronic annotation. Source: InterPro synaptic vesicle Inferred from direct assay PubMed 10321247. Source: UniProtKB terminal bouton Inferred from electronic annotation. Source: Compara
Molecular_function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW GTPase activity Traceable author statement Ref.2. Source: ProtInc structural molecule activity Traceable author statement Ref.3. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SEPT11	Q9NVA2	6	EBI-373345,EBI-957999

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q99719-1)

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.

Isoform 2 (identifier: Q99719-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MSTGLRYKSKLATPEDKQ → MDSLAAPQDRLVEQLLSPRTQAQRRLK
     272-369: VENQAHCDFV...QRMKQQMQDQ → GALRLREAAQ...PAAAHPGRRD

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 369	369	Septin-5		PRO_0000173521
Regions
	Nucleotide binding	51 – 58	8	GTP By similarity
	Nucleotide binding	190 – 198	9	GTP By similarity
	Coiled coil	338 – 369	32	Potential
Sites
	Binding site	85	1	GTP By similarity
	Binding site	111	1	GTP; via amide nitrogen By similarity
	Binding site	248	1	GTP; via amide nitrogen and carbonyl oxygen By similarity
	Binding site	263	1	GTP By similarity
Amino acid modifications
	Modified residue	225	1	Phosphoserine Ref.14 Ref.15
	Modified residue	327	1	Phosphoserine Ref.15
	Modified residue	336	1	Phosphothreonine By similarity
Natural variations
	Alternative sequence	1 – 18	18	MSTGL…PEDKQ → MDSLAAPQDRLVEQLLSPRT QAQRRLK in isoform 2.		VSP_042689
	Alternative sequence	272 – 369	98	VENQA…QMQDQ → GALRLREAAQHAHPHAYARP QGRDVRRALRELPRALHPAD DQQTDPGQPHGEPHPDPAAA HPGRRD in isoform 2.		VSP_042690
Experimental info
	Sequence conflict	224	1	D → N in CAA72332. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 47054765DEA10D33	FASTA	369	42,777
	10 20 30 40 50 60 MSTGLRYKSK LATPEDKQDI DKQYVGFATL PNQVHRKSVK KGFDFTLMVA GESGLGKSTL 70 80 90 100 110 120 VHSLFLTDLY KDRKLLSAEE RISQTVEILK HTVDIEEKGV KLKLTIVDTP GFGDAVNNTE 130 140 150 160 170 180 CWKPITDYVD QQFEQYFRDE SGLNRKNIQD NRVHCCLYFI SPFGHGLRPV DVGFMKALHE 190 200 210 220 230 240 KVNIVPLIAK ADCLVPSEIR KLKERIREEI DKFGIHVYQF PECDSDEDED FKQQDRELKE 250 260 270 280 290 300 SAPFAVIGSN TVVEAKGQRV RGRLYPWGIV EVENQAHCDF VKLRNMLIRT HMHDLKDVTC 310 320 330 340 350 360 DVHYENYRAH CIQQMTSKLT QDSRMESPIP ILPLPTPDAE TEKLIRMKDE ELRRMQEMLQ RMKQQMQDQ
	Isoform 2 [UniParc]. Checksum: 380EACD6A7BFE814	FASTA	346	39,332
	10 20 30 40 50 60 MDSLAAPQDR LVEQLLSPRT QAQRRLKDID KQYVGFATLP NQVHRKSVKK GFDFTLMVAG 70 80 90 100 110 120 ESGLGKSTLV HSLFLTDLYK DRKLLSAEER ISQTVEILKH TVDIEEKGVK LKLTIVDTPG 130 140 150 160 170 180 FGDAVNNTEC WKPITDYVDQ QFEQYFRDES GLNRKNIQDN RVHCCLYFIS PFGHGLRPVD 190 200 210 220 230 240 VGFMKALHEK VNIVPLIAKA DCLVPSEIRK LKERIREEID KFGIHVYQFP ECDSDEDEDF 250 260 270 280 290 300 KQQDRELKES APFAVIGSNT VVEAKGQRVR GRLYPWGIVE GALRLREAAQ HAHPHAYARP 310 320 330 340 QGRDVRRALR ELPRALHPAD DQQTDPGQPH GEPHPDPAAA HPGRRD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence." Zieger B., Hashimoto Y., Ware J. J. Clin. Invest. 99:520-525(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11." McKie J., Sutherland H., Harvey E., Kim U.J., Scambler P.J. Hum. Genet. 101:6-12(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart.
[3]	"Structure and expression of the human septin gene HCDCREL-1." Yagi M., Zieger B., Roth G.J., Ware J. Gene 212:229-236(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Brain.
[4]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[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] (ISOFORM 2).
[6]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORM 1). Tissue: Lung.
[9]	Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 23-36; 42-71; 82-90; 182-190; 297-308 AND 325-343, MASS SPECTROMETRY. Tissue: Brain, Cajal-Retzius cell and Fetal brain cortex.
[10]	"Human septin-septin interaction: CDCrel-1 partners with KIAA0202." Blaeser S., Jersch K., Hainmann I., Wunderle D., Zgaga-Griesz A., Busse A., Zieger B. FEBS Lett. 519:169-172(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SEPT8, TISSUE SPECIFICITY.
[11]	"A prototypic platelet septin and its participation in secretion." Dent J., Kato K., Peng X.-R., Martinez C., Cattaneo M., Poujol C., Nurden P., Nurden A., Trimble W.S., Ware J. Proc. Natl. Acad. Sci. U.S.A. 99:3064-3069(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH STX4, PHOSPHORYLATION.
[12]	"Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1." Dong Z., Ferger B., Paterna J.-C., Vogel D., Furler S., Osinde M., Feldon J., Bueeler H. Proc. Natl. Acad. Sci. U.S.A. 100:12438-12443(2003) [PubMed] [Europe PMC] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN PARK2.
[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]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225, MASS SPECTROMETRY. Tissue: Platelet.
[15]	"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-225 AND SER-327, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[16]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	U74628 mRNA. Translation: AAB93438.1. Y11593 mRNA. Translation: CAA72332.1. AF006988 Genomic DNA. Translation: AAC39779.1. CR456545 mRNA. Translation: CAG30431.1. AK056273 mRNA. Translation: BAB71133.1. AC000093 Genomic DNA. No translation available. CH471176 Genomic DNA. Translation: EAX03032.1. BC025261 mRNA. Translation: AAH25261.1.
IPI	IPI00017731.
RefSeq	NP_001009939.1. NM_001009939.2. NP_002679.2. NM_002688.5.
UniGene	Hs.728762.
3D structure databases
ProteinModelPortal	Q99719.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q99719. 6 interactions.
STRING	9606.ENSP00000391311.
PTM databases
PhosphoSite	Q99719.
Polymorphism databases
DMDM	6685760.
2D gel databases
UCD-2DPAGE	Q99719.
Proteomic databases
PaxDb	Q99719.
PRIDE	Q99719.
Protocols and materials databases
DNASU	5413.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000438754; ENSP00000394541; ENSG00000184702. ENST00000455784; ENSP00000391311; ENSG00000184702.
GeneID	5413.
KEGG	hsa:5413.
UCSC	uc002zpv.2. human.
Organism-specific databases
CTD	5413.
GeneCards	GC22P019701.
H-InvDB	HIX0016241.
HGNC	HGNC:9164. SEPT5.
HPA	CAB016120.
MIM	602724. gene.
neXtProt	NX_Q99719.
PharmGKB	PA33486.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5019.
HOGENOM	HOG000233586.
HOVERGEN	HBG065093.
KO	K04557.
OrthoDB	EOG447FTF.
Gene expression databases
ArrayExpress	Q99719.
Bgee	Q99719.
CleanEx	HS_SEPT5.
Genevestigator	Q99719.
GermOnline	ENSG00000184702. Homo sapiens.
Family and domain databases
InterPro	IPR000038. Cell_div_GTP-bd. IPR016491. Septin. [Graphical view]
PANTHER	PTHR18884. PTHR18884. 1 hit.
Pfam	PF00735. Septin. 1 hit. [Graphical view]
PIRSF	PIRSF006698. Septin. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	SEPT5. human.
GenomeRNAi	5413.
NextBio	20957.
SOURCE	Search...

Entry information

Entry name

SEPT5_HUMAN

Accession

Primary (citable) accession number: Q99719
Secondary accession number(s): O15251, Q96MY5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 1, 1997
Last modified:	May 1, 2013
This is version 118 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.