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Q8IYM1

- SEP12_HUMAN

UniProt

Q8IYM1 - SEP12_HUMAN

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Protein

Septin-12

Gene

SEPT12

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).By similarityCurated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei89 – 891GTPBy similarity
Binding sitei115 – 1151GTP; via amide nitrogenBy similarity
Binding sitei251 – 2511GTP; via amide nitrogen and carbonyl oxygenBy similarity
Binding sitei266 – 2661GTPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi56 – 638GTPBy similarity
Nucleotide bindingi195 – 2039GTPBy similarity

GO - Molecular functioni

  1. GDP binding Source: UniProtKB
  2. GTP binding Source: UniProtKB
  3. phosphatidylinositol binding Source: UniProtKB
  4. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. cell cycle Source: UniProtKB-KW
  2. cell division Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Septin-12
Gene namesi
Name:SEPT12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:26348. SEPT12.

Subcellular locationi

Cytoplasm. Cytoplasmcytoskeleton. Cytoplasmcytoskeletonspindle. Cell projectionciliumflagellum
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.

GO - Cellular componenti

  1. cleavage furrow Source: UniProtKB
  2. microtubule cytoskeleton Source: HPA
  3. midbody Source: UniProtKB
  4. perinuclear region of cytoplasm Source: UniProtKB
  5. septin complex Source: UniProtKB
  6. sperm annulus Source: UniProtKB
  7. spindle Source: UniProtKB
  8. stress fiber Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891T → M in SPGF10; results in significantly reduced GTP hydrolysis. 1 Publication
Corresponds to variant rs199696526 [ dbSNP | Ensembl ].
VAR_068097
Natural varianti197 – 1971D → N in SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding. 1 Publication
VAR_068098

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi56 – 561G → N: Abolishes binding to GTP and to SEPT11, and also abolishes the ability of SEPT12 to form filamentous structures. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614822. phenotype.
Orphaneti276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBiPA162402916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 358358Septin-12PRO_0000312860Add
BLAST

Proteomic databases

PaxDbiQ8IYM1.
PRIDEiQ8IYM1.

PTM databases

PhosphoSiteiQ8IYM1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ8IYM1.
CleanExiHS_SEPT12.
ExpressionAtlasiQ8IYM1. baseline and differential.
GenevestigatoriQ8IYM1.

Organism-specific databases

HPAiHPA041128.

Interactioni

Subunit structurei

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.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SEPT6Q141413EBI-2585067,EBI-745901

Protein-protein interaction databases

BioGridi125863. 14 interactions.
IntActiQ8IYM1. 1 interaction.
STRINGi9606.ENSP00000268231.

Structurei

3D structure databases

ProteinModelPortaliQ8IYM1.
SMRiQ8IYM1. Positions 48-315.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini46 – 317272Septin-type GAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5019.
GeneTreeiENSGT00760000118899.
HOGENOMiHOG000233586.
HOVERGENiHBG065093.
InParanoidiQ8IYM1.
KOiK16938.
OMAiIRLNESH.
PhylomeDBiQ8IYM1.
TreeFamiTF101078.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR000038. Cell_div_GTP-bd.
IPR027417. P-loop_NTPase.
IPR016491. Septin.
[Graphical view]
PANTHERiPTHR18884. PTHR18884. 1 hit.
PfamiPF00735. Septin. 1 hit.
[Graphical view]
PIRSFiPIRSF006698. Septin. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51719. G_SEPTIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IYM1-1) [UniParc]FASTAAdd to Basket

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
MDPLRRSPSP CLSSQPSSPS TPPCEMLGPV GIEAVLDQLK IKAMKMGFEF
60 70 80 90 100
NIMVVGQSGL GKSTMVNTLF KSKVWKSNPP GLGVPTPQTL QLHSLTHVIE
110 120 130 140 150
EKGVKLKLTV TDTPGFGDQI NNDNCWDPIL GYINEQYEQY LQEEILITRQ
160 170 180 190 200
RHIPDTRVHC CVYFVPPTGH CLRPLDIEFL QRLCRTVNVV PVIARADSLT
210 220 230 240 250
MEEREAFRRR IQQNLRTHCI DVYPQMCFDE DINDKILNSK LRDRIPFAVV
260 270 280 290 300
GADQEHLVNG RCVLGRKTKW GIIEVENMAH CEFPLLRDLL IRSHLQDLKD
310 320 330 340 350
ITHNIHYENY RVIRLNESHL LPRGPGWVNL APASPGQLTT PRTFKVCRGA

HDDSDDEF
Length:358
Mass (Da):40,748
Last modified:March 1, 2003 - v1
Checksum:i31968F366DEFB4FD
GO
Isoform 2 (identifier: Q8IYM1-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:312
Mass (Da):35,191
Checksum:iA9C83873ABB4CBE4
GO

Sequence cautioni

The sequence AAH24017.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti22 – 221P → T in AAH24017. (PubMed:15489334)Curated
Sequence conflicti258 – 2581V → M in BAB71681. (PubMed:14702039)Curated
Sequence conflicti280 – 2801H → L in AAH24017. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891T → M in SPGF10; results in significantly reduced GTP hydrolysis. 1 Publication
Corresponds to variant rs199696526 [ dbSNP | Ensembl ].
VAR_068097
Natural varianti197 – 1971D → N in SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding. 1 Publication
VAR_068098
Natural varianti213 – 2131Q → R.
Corresponds to variant rs6500633 [ dbSNP | Ensembl ].
VAR_057176

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei125 – 17046Missing in isoform 2. 2 PublicationsVSP_029918Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10522.1. [Q8IYM1-1]
CCDS53987.1. [Q8IYM1-2]
RefSeqiNP_001147930.1. NM_001154458.2. [Q8IYM1-2]
NP_653206.2. NM_144605.4. [Q8IYM1-1]
XP_006720909.1. XM_006720846.1. [Q8IYM1-1]
UniGeneiHs.126780.

Genome annotation databases

EnsembliENST00000268231; ENSP00000268231; ENSG00000140623. [Q8IYM1-1]
ENST00000396693; ENSP00000379922; ENSG00000140623. [Q8IYM1-2]
GeneIDi124404.
KEGGihsa:124404.
UCSCiuc002cxq.3. human. [Q8IYM1-1]
uc002cxr.3. human. [Q8IYM1-2]

Polymorphism databases

DMDMi74750767.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS10522.1. [Q8IYM1-1 ]
CCDS53987.1. [Q8IYM1-2 ]
RefSeqi NP_001147930.1. NM_001154458.2. [Q8IYM1-2 ]
NP_653206.2. NM_144605.4. [Q8IYM1-1 ]
XP_006720909.1. XM_006720846.1. [Q8IYM1-1 ]
UniGenei Hs.126780.

3D structure databases

ProteinModelPortali Q8IYM1.
SMRi Q8IYM1. Positions 48-315.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125863. 14 interactions.
IntActi Q8IYM1. 1 interaction.
STRINGi 9606.ENSP00000268231.

PTM databases

PhosphoSitei Q8IYM1.

Polymorphism databases

DMDMi 74750767.

Proteomic databases

PaxDbi Q8IYM1.
PRIDEi Q8IYM1.

Protocols and materials databases

DNASUi 124404.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000268231 ; ENSP00000268231 ; ENSG00000140623 . [Q8IYM1-1 ]
ENST00000396693 ; ENSP00000379922 ; ENSG00000140623 . [Q8IYM1-2 ]
GeneIDi 124404.
KEGGi hsa:124404.
UCSCi uc002cxq.3. human. [Q8IYM1-1 ]
uc002cxr.3. human. [Q8IYM1-2 ]

Organism-specific databases

CTDi 124404.
GeneCardsi GC16M004829.
HGNCi HGNC:26348. SEPT12.
HPAi HPA041128.
MIMi 611562. gene.
614822. phenotype.
neXtProti NX_Q8IYM1.
Orphaneti 276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBi PA162402916.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5019.
GeneTreei ENSGT00760000118899.
HOGENOMi HOG000233586.
HOVERGENi HBG065093.
InParanoidi Q8IYM1.
KOi K16938.
OMAi IRLNESH.
PhylomeDBi Q8IYM1.
TreeFami TF101078.

Miscellaneous databases

GenomeRNAii 124404.
NextBioi 81269.
PROi Q8IYM1.
SOURCEi Search...

Gene expression databases

Bgeei Q8IYM1.
CleanExi HS_SEPT12.
ExpressionAtlasi Q8IYM1. baseline and differential.
Genevestigatori Q8IYM1.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR000038. Cell_div_GTP-bd.
IPR027417. P-loop_NTPase.
IPR016491. Septin.
[Graphical view ]
PANTHERi PTHR18884. PTHR18884. 1 hit.
Pfami PF00735. Septin. 1 hit.
[Graphical view ]
PIRSFi PIRSF006698. Septin. 1 hit.
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS51719. G_SEPTIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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.

Entry informationi

Entry nameiSEP12_HUMAN
AccessioniPrimary (citable) accession number: Q8IYM1
Secondary accession number(s): Q0P6B0, Q1PBH0, Q96LL0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: March 1, 2003
Last modified: October 29, 2014
This is version 99 of the entry and version 1 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 16
    Human chromosome 16: 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