• Gene id: 440279

Gene Summary

• Gene Symbol: UNC13C   Gene   UCSC   Ensembl
• Gene name: unc-13 homolog C
• Alternate names: protein unc-13 homolog C, Munc13-3, unc-13-like 3,
• Gene location: 15q21.3 (53837572: 54633439)     Exons: 38     NC_000015.10
• OMIM: 614568

Protein Summary

• Protein general information: Q8NB66  
  • Name: Protein unc 13 homolog C (Munc13 3)
  • Length: 2214  
  • Mass: 250911
  • Tissue specificity: Exclusively expressed in brain.
• Sequence:

  MVANFFKSLILPYIHKLCKGMFTKKLGNTNKNKEYRQQKKDQDFPTAGQTKSPKFSYTFKSTVKKIAKCSSTHNL
  STEEDEASKEFSLSPTFSYRVAIANGLQKNAKVTNSDNEDLLQELSSIESSYSESLNELRSSTENQAQSTHTMPV
  RRNRKSSSSLAPSEGSSDGERTLHGLKLGALRKLRKWKKSQECVSSDSELSTMKKSWGIRSKSLDRTVRNPKTNA
  LEPGFSSSGCISQTHDVMEMIFKELQGISQIETELSELRGHVNALKHSIDEISSSVEVVQSEIEQLRTGFVQSRR
  ETRDIHDYIKHLGHMGSKASLRFLNVTEERFEYVESVVYQILIDKMGFSDAPNAIKIEFAQRIGHQRDCPNAKPR
  PILVYFETPQQRDSVLKKSYKLKGTGIGISTDILTHDIRERKEKGIPSSQTYESMAIKLSTPEPKIKKNNWQSPD
  DSDEDLESDLNRNSYAVLSKSELLTKGSTSKPSSKSHSARSKNKTANSSRISNKSDYDKISSQLPESDILEKQTT
  THYADATPLWHSQSDFFTAKLSRSESDFSKLCQSYSEDFSENQFFTRTNGSSLLSSSDRELWQRKQEGTATLYDS
  PKDQHLNGGVQGIQGQTETENTETVDSGMSNGMVCASGDRSHYSDSQLSLHEDLSPWKEWNQGADLGLDSSTQEG
  FDYETNSLFDQQLDVYNKDLEYLGKCHSDLQDDSESYDLTQDDNSSPCPGLDNEPQGQWVGQYDSYQGANSNELY
  QNQNQLSMMYRSQSELQSDDSEDAPPKSWHSRLSIDLSDKTFSFPKFGSTLQRAKSALEVVWNKSTQSLSGYEDS
  GSSLMGRFRTLSQSTANESSTTLDSDVYTEPYYYKAEDEEDYTEPVADNETDYVEVMEQVLAKLENRTSITETDE
  QMQAYDHLSYETPYETPQDEGYDGPADDMVSEEGLEPLNETSAEMEIREDENQNIPEQPVEITKPKRIRPSFKEA
  ALRAYKKQMAELEEKILAGDSSSVDEKARIVSGNDLDASKFSALQVCGGAGGGLYGIDSMPDLRRKKTLPIVRDV
  AMTLAARKSGLSLAMVIRTSLNNEELKMHVFKKTLQALIYPMSSTIPHNFEVWTATTPTYCYECEGLLWGIARQG
  MKCLECGVKCHEKCQDLLNADCLQRAAEKSSKHGAEDKTQTIITAMKERMKIREKNRPEVFEVIQEMFQISKEDF
  VQFTKAAKQSVLDGTSKWSAKITITVVSAQGLQAKDKTGSSDPYVTVQVGKNKRRTKTIFGNLNPVWDEKFYFEC
  HNSTDRIKVRVWDEDDDIKSRVKQHFKKESDDFLGQTIVEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLKINVEI
  KGEEKVAPYHIQYTCLHENLFHYLTEVKSNGGVKIPEVKGDEAWKVFFDDASQEIVDEFAMRYGIESIYQAMTHF
  SCLSSKYMCPGVPAVMSTLLANINAFYAHTTVSTNIQVSASDRFAATNFGREKFIKLLDQLHNSLRIDLSKYREN
  FPASNTERLQDLKSTVDLLTSITFFRMKVLELQSPPKASMVVKDCVRACLDSTYKYIFDNCHELYSQLTDPSKKQ
  DIPREDQGPTTKNLDFWPQLITLMVTIIDEDKTAYTPVLNQFPQELNMGKISAEIMWTLFALDMKYALEEHENQR
  LCKSTDYMNLHFKVKWFYNEYVRELPAFKDAVPEYSLWFEPFVMQWLDENEDVSMEFLHGALGRDKKDGFQQTSE
  HALFSCSVVDVFAQLNQSFEIIKKLECPNPEALSHLMRRFAKTINKVLLQYAAIVSSDFSSHCDKENVPCILMNN
  IQQLRVQLEKMFESMGGKELDSEASTILKELQVKLSGVLDELSVTYGESFQVIIEECIKQMSFELNQMRANGNTT
  SNKNSAAMDAEIVLRSLMDFLDKTLSLSAKICEKTVLKRVLKELWKLVLNKIEKQIVLPPLTDQTGPQMIFIAAK
  DLGQLSKLKEHMIREDARGLTPRQCAIMEVVLATIKQYFHAGGNGLKKNFLEKSPDLQSLRYALSLYTQTTDALI
  KKFIDTQTSQSRSSKDAVGQISVHVDITATPGTGDHKVTVKVIAINDLNWQTTAMFRPFVEVCILGPNLGDKKRK
  QGTKTKSNTWSPKYNETFQFILGKENRPGAYELHLSVKDYCFAREDRIIGMTVIQLQNIAEKGSYGAWYPLLKNI
  SMDETGLTILRILSQRTSDDVAKEFVRLKSETRSTEESA

• Structural information:
  • Protein Domains: (1203..132-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (1637..178-)
    (/note="MHD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00587-)
    (1886..202-)
    (/note="MHD2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00588-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR010439  IPR014770  IPR014772   IPR019558  IPR002219  IPR027080  IPR037302  IPR027087  
  • Prosite: PS50004 PS51258 PS51259 PS00479 PS50081
  • CDD: cd00029 cd04027
  • STRING: ENSP00000260323
• Other Databases: GeneCards:  UNC13C  Malacards:  UNC13C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007268	chemical synaptic transmission	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0005516	calmodulin binding	IBA	molecular function
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0016082	synaptic vesicle priming	IBA	biological process
GO:0016188	synaptic vesicle maturation	IBA	biological process
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0043195	terminal bouton	IBA	cellular component
GO:0098831	presynaptic active zone cytoplasmic component	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016081	synaptic vesicle docking	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0061789	dense core granule priming	IBA	biological process
GO:0099525	presynaptic dense core vesicle exocytosis	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0019992	diacylglycerol binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0098688	parallel fiber to Purkinje cell synapse	IEA	cellular component
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0044305	calyx of Held	IEA	cellular component
GO:0031914	negative regulation of synaptic plasticity	IEA	biological process
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)