Q8IYM1 (SEP12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Septin-12

Gene names

Name:

SEPT12

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	358 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.
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 SEPT6 and SEPT11. Forms homodimers. Ref.2 Ref.8
Subcellular location	Cytoplasm. Cytoplasm › cytoskeleton. Cytoplasm › cytoskeleton › spindle. Cell projection › cilium › flagellum. Note: At interphase, forms a filamentous structure in the cytoplasm. During anaphase, translocates to the central spindle region and to the midbody during cytokinesis. Found in the sperm annulus. Ref.2 Ref.9
Tissue specificity	Widely expressed. Ref.7
Involvement in disease	Spermatogenic failure 10 (SPGF10) [MIM:614822]: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the septin family.
Sequence caution	The sequence AAH24017.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Cell cycle Cell division
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Flagellum
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Ligand	GTP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW cell division Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cleavage furrow Inferred from sequence or structural similarity. Source: UniProtKB midbody Inferred from direct assay Ref.2. Source: UniProtKB perinuclear region of cytoplasm Inferred from direct assay Ref.2. Source: UniProtKB septin complex Inferred from sequence or structural similarity. Source: UniProtKB sperm annulus Inferred from direct assay Ref.9. Source: UniProtKB spindle Inferred from direct assay Ref.2. Source: UniProtKB stress fiber Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	GDP binding Inferred from sequence or structural similarity. Source: UniProtKB GTP binding Inferred from direct assay Ref.8. Source: UniProtKB phosphatidylinositol binding Inferred from sequence or structural similarity. Source: UniProtKB protein homodimerization activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SEPT6	Q14141	3	EBI-2585067,EBI-745901

Alternative products

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

Isoform 1 (identifier: Q8IYM1-1)

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: Q8IYM1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     125-170: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 358	358	Septin-12		PRO_0000312860
Regions
	Nucleotide binding	56 – 63	8	GTP By similarity
	Nucleotide binding	195 – 203	9	GTP By similarity
Sites
	Binding site	89	1	GTP By similarity
	Binding site	115	1	GTP; via amide nitrogen By similarity
	Binding site	251	1	GTP; via amide nitrogen and carbonyl oxygen By similarity
	Binding site	266	1	GTP By similarity
Natural variations
	Alternative sequence	125 – 170	46	Missing in isoform 2.		VSP_029918
	Natural variant	89	1	T → M in SPGF10; results in significantly reduced GTP hydrolysis. Ref.9		VAR_068097
	Natural variant	197	1	D → N in SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding. Ref.9		VAR_068098
	Natural variant	213	1	Q → R. Corresponds to variant rs6500633 [ dbSNP | Ensembl ].		VAR_057176
Experimental info
	Mutagenesis	56	1	G → N: Abolishes binding to GTP and to SEPT11, and also abolishes the ability of SEPT12 to form filamentous structures. Ref.8
	Sequence conflict	22	1	P → T in AAH24017. Ref.6
	Sequence conflict	258	1	V → M in BAB71681. Ref.4
	Sequence conflict	280	1	H → L in AAH24017. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 31968F366DEFB4FD	FASTA	358	40,748
	10 20 30 40 50 60 MDPLRRSPSP CLSSQPSSPS TPPCEMLGPV GIEAVLDQLK IKAMKMGFEF NIMVVGQSGL 70 80 90 100 110 120 GKSTMVNTLF KSKVWKSNPP GLGVPTPQTL QLHSLTHVIE EKGVKLKLTV TDTPGFGDQI 130 140 150 160 170 180 NNDNCWDPIL GYINEQYEQY LQEEILITRQ RHIPDTRVHC CVYFVPPTGH CLRPLDIEFL 190 200 210 220 230 240 QRLCRTVNVV PVIARADSLT MEEREAFRRR IQQNLRTHCI DVYPQMCFDE DINDKILNSK 250 260 270 280 290 300 LRDRIPFAVV GADQEHLVNG RCVLGRKTKW GIIEVENMAH CEFPLLRDLL IRSHLQDLKD 310 320 330 340 350 ITHNIHYENY RVIRLNESHL LPRGPGWVNL APASPGQLTT PRTFKVCRGA HDDSDDEF
	Isoform 2 [UniParc]. Checksum: A9C83873ABB4CBE4	FASTA	312	35,191
	10 20 30 40 50 60 MDPLRRSPSP CLSSQPSSPS TPPCEMLGPV GIEAVLDQLK IKAMKMGFEF NIMVVGQSGL 70 80 90 100 110 120 GKSTMVNTLF KSKVWKSNPP GLGVPTPQTL QLHSLTHVIE EKGVKLKLTV TDTPGFGDQI 130 140 150 160 170 180 NNDNCLRPLD IEFLQRLCRT VNVVPVIARA DSLTMEEREA FRRRIQQNLR THCIDVYPQM 190 200 210 220 230 240 CFDEDINDKI LNSKLRDRIP FAVVGADQEH LVNGRCVLGR KTKWGIIEVE NMAHCEFPLL 250 260 270 280 290 300 RDLLIRSHLQ DLKDITHNIH YENYRVIRLN ESHLLPRGPG WVNLAPASPG QLTTPRTFKV 310 CRGAHDDSDD EF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Sept12 is a component of the mammalian sperm tail annulus." Steels J.D., Estey M.P., Froese C.D., Reynaud D., Pace-Asciak C., Trimble W.S. Cell Motil. Cytoskeleton 64:794-807(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING (ISOFORM 1).
[2]	"SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells." Ding X., Yu W., Liu M., Shen S., Chen F., Wan B., Yu L. J. Biochem. Mol. Biol. 40:973-978(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH SEPT6 AND SEPT11, SUBCELLULAR LOCATION. Tissue: Testis.
[3]	"Molecular cloning of septin 12 transcript variant 2 from human testis." Wang J.R., Xing X.W., Jiang X.Z., Tang Y.X., Yang J.F., Dai Y.B., Tan J. Submitted (MAY-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"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 1). Tissue: Testis.
[5]	Mural R.J., Istrail S., Sutton G.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].
[6]	"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: Brain and Testis.
[7]	"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.
[8]	"GTP binding is required for SEPT12 to form filaments and to interact with SEPT11." Ding X., Yu W., Liu M., Shen S., Chen F., Cao L., Wan B., Yu L. Mol. Cells 25:385-389(2008) [PubMed] [Europe PMC] [Abstract] Cited for: HOMODIMERIZATION, INTERACTION WITH SEPT11, GTP-BINDING, MUTAGENESIS OF GLY-56.
[9]	"SEPT12 mutations cause male infertility with defective sperm annulus." Kuo Y.C., Lin Y.H., Chen H.I., Wang Y.Y., Chiou Y.W., Lin H.H., Pan H.A., Wu C.M., Su S.M., Hsu C.C., Kuo P.L. Hum. Mutat. 33:710-719(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, VARIANTS SPGF10 MET-89 AND ASN-197, CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	DQ456996 mRNA. Translation: ABE68946.1. DQ517531 mRNA. Translation: ABF61438.1. EF620906 mRNA. Translation: ABR10901.1. AK058139 mRNA. Translation: BAB71681.1. CH471112 Genomic DNA. Translation: EAW85265.1. BC024017 mRNA. Translation: AAH24017.1. Different initiation. BC035619 mRNA. Translation: AAH35619.1.
IPI	IPI00293544. IPI00745407.
RefSeq	NP_001147930.1. NM_001154458.2. NP_653206.2. NM_144605.4.
UniGene	Hs.126780.
3D structure databases
ProteinModelPortal	Q8IYM1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IYM1. 1 interaction.
STRING	9606.ENSP00000268231.
PTM databases
PhosphoSite	Q8IYM1.
Polymorphism databases
DMDM	74750767.
Proteomic databases
PaxDb	Q8IYM1.
PRIDE	Q8IYM1.
Protocols and materials databases
DNASU	124404.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000268231; ENSP00000268231; ENSG00000140623. ENST00000396693; ENSP00000379922; ENSG00000140623.
GeneID	124404.
KEGG	hsa:124404.
UCSC	uc002cxq.3. human. uc002cxr.3. human.
Organism-specific databases
CTD	124404.
GeneCards	GC16M004828.
HGNC	HGNC:26348. SEPT12.
HPA	HPA041128.
MIM	611562. gene. 614822. phenotype.
neXtProt	NX_Q8IYM1.
PharmGKB	PA162402916.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5019.
HOGENOM	HOG000233586.
HOVERGEN	HBG065093.
InParanoid	Q8IYM1.
OMA	PPCEMLG.
OrthoDB	EOG4WDDBR.
PhylomeDB	Q8IYM1.
Gene expression databases
Bgee	Q8IYM1.
CleanEx	HS_SEPT12.
Genevestigator	Q8IYM1.
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
GenomeRNAi	124404.
NextBio	81269.
SOURCE	Search...

Entry information

Entry name

SEP12_HUMAN

Accession

Primary (citable) accession number: Q8IYM1
Secondary accession number(s): Q0P6B0, Q1PBH0, Q96LL0

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	March 1, 2003
Last modified:	May 1, 2013
This is version 84 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.