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O14795 (UN13B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein unc-13 homolog B
Alternative name(s):
Munc13-2
Short name=munc13
Gene names
Name:UNC13B
Synonyms:UNC13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1591 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses By similarity.

Subunit structure

Interacts with RIMS1 By similarity.

Subcellular location

Cytoplasm By similarity. Membrane; Peripheral membrane protein By similarity. Cell membrane By similarity. Cell junctionsynapse By similarity. Note: Localized to synapses. Translocated to the plasma membrane in response to phorbol ester binding By similarity. Ref.4

Tissue specificity

Expressed in kidney cortical epithelial cells and brain. Ref.1

Domain

The C2 domains are not involved in calcium-dependent phospholipid binding By similarity.

Sequence similarities

Belongs to the unc-13 family.

Contains 3 C2 domains.

Contains 1 MHD1 (MUNC13 homology domain 1) domain.

Contains 1 MHD2 (MUNC13 homology domain 2) domain.

Contains 1 phorbol-ester/DAG-type zinc finger.

Ontologies

Keywords
   Biological processExocytosis
   Cellular componentCell junction
Cell membrane
Cytoplasm
Membrane
Synapse
   Coding sequence diversityPolymorphism
   DomainCoiled coil
Repeat
Zinc-finger
   LigandMetal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic process

Traceable author statement Ref.4. Source: ProtInc

excretion

Traceable author statement Ref.1. Source: ProtInc

innervation

Inferred from electronic annotation. Source: Ensembl

intracellular signal transduction

Inferred from electronic annotation. Source: InterPro

neuromuscular junction development

Inferred from electronic annotation. Source: Ensembl

regulation of short-term neuronal synaptic plasticity

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.1. Source: ProtInc

synaptic transmission, glutamatergic

Inferred from electronic annotation. Source: Ensembl

synaptic vesicle docking involved in exocytosis

Inferred from electronic annotation. Source: Ensembl

synaptic vesicle priming

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentGolgi apparatus

Inferred from direct assay PubMed 16138900. Source: UniProt

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

cytoplasm

Traceable author statement Ref.4. Source: ProtInc

cytosol

Inferred from direct assay PubMed 16138900. Source: UniProt

neuromuscular junction

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functiondiacylglycerol binding

Inferred from electronic annotation. Source: InterPro

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

receptor activity

Traceable author statement Ref.1. Source: ProtInc

signal transducer activity

Traceable author statement Ref.4Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15911591Protein unc-13 homolog B
PRO_0000188575

Regions

Domain1 – 7979C2 1
Domain587 – 693107C2 2
Domain1013 – 1156144MHD1
Domain1263 – 1405143MHD2
Domain1425 – 1530106C2 3
Zinc finger477 – 52751Phorbol-ester/DAG-type
Coiled coil1172 – 120231 Potential

Natural variations

Natural variant2091P → S in a colorectal cancer sample; somatic mutation. Ref.7
VAR_036615
Natural variant2381D → E.
Corresponds to variant rs35199210 [ dbSNP | Ensembl ].
VAR_037273
Natural variant12321E → D.
Corresponds to variant rs12339582 [ dbSNP | Ensembl ].
VAR_037274

Experimental info

Sequence conflict12071L → P in AAC19406. Ref.1
Sequence conflict14041T → R in AAC19406. Ref.1
Sequence conflict14971F → L in AAC19406. Ref.1

Sequences

Sequence LengthMass (Da)Tools
O14795 [UniParc].

Last modified November 13, 2007. Version 2.
Checksum: FBE8D85C55A8D780

FASTA1,591180,679
        10         20         30         40         50         60 
MSLLCVRVKR AKFQGSPDKF NTYVTLKVQN VKSTTVAVRG DQPSWEQDFM FEISRLDLGL 

        70         80         90        100        110        120 
SVEVWNKGLI WDTMVGTVWI ALKTIRQSDE EGPGEWSTLE AETLMKDDEI CGTRNPTPHK 

       130        140        150        160        170        180 
ILLDTRFELP FDIPEEEARY WTYKWEQINA LGADNEYSSQ EESQRKPLPT AAAQCSFEDP 

       190        200        210        220        230        240 
DSAVDDRDSD YRSETSNSFP PPYHTASQPN ASVHQFPVPV RSPQQLLLQG SSRDSCNDSM 

       250        260        270        280        290        300 
QSYDLDYPER RAISPTSSSR YGSSCNVSQG SSQLSELDQY HEQDDDHRET DSIHSCHSSH 

       310        320        330        340        350        360 
SLSRDGQAGF GEQEKPLEVT GQAEKEAACE PKEMKEDATT HPPPDLVLQK DHFLGPQESF 

       370        380        390        400        410        420 
PEENASSPFT QARAHWIRAV TKVRLQLQEI PDDGDPSLPQ WLPEGPAGGL YGIDSMPDLR 

       430        440        450        460        470        480 
RKKPLPLVSD LSLVQSRKAG ITSAMATRTS LKDEELKSHV YKKTLQALIY PISCTTPHNF 

       490        500        510        520        530        540 
EVWTATTPTY CYECEGLLWG IARQGMRCSE CGVKCHEKCQ DLLNADCLQR AAEKSCKHGA 

       550        560        570        580        590        600 
EDRTQNIIMA MKDRMKIRER NKPEIFEVIR DVFTVNKAAH VQQMKTVKQS VLDGTSKWSA 

       610        620        630        640        650        660 
KITITVVCAQ GLQAKDKTGS SDPYVTVQVS KTKKRTKTIF GNLNPVWEEK FHFECHNSSD 

       670        680        690        700        710        720 
RIKVRVWDED DDIKSRVKQR LKRESDDFLG QTIIEVRTLS GEMDVWYNLE KRTDKSAVSG 

       730        740        750        760        770        780 
AIRLQISVEI KGEEKVAPYH VQYTCLHENL FHYLTDIQGS GGVRIPEARG DDAWKVYFDE 

       790        800        810        820        830        840 
TAQEIVDEFA MRYGIESIYQ AMTHFACLSS KYMCPGVPAV MSTLLANINA YYAHTTASTN 

       850        860        870        880        890        900 
VSASDRFAAS NFGKERFVKL LDQLHNSLRI DLSTYRNNFP AGSPERLQDL KSTVDLLTSI 

       910        920        930        940        950        960 
TFFRMKVQEL QSPPRASQVV KDCVKACLNS TYEYIFNNCH DLYSRQYQLK QELPPEEQGP 

       970        980        990       1000       1010       1020 
SIRNLDFWPK LITLIVSIIE EDKNSYTPVL NQFPQELNVG KVSAEVMWHL FAQDMKYALE 

      1030       1040       1050       1060       1070       1080 
EHEKDHLCKS ADYMNLHFKV KWLHNEYVRD LPVLQGQVPE YPAWFEQFVL QWLDENEDVS 

      1090       1100       1110       1120       1130       1140 
LEFLRGALER DKKDGFQQTS EHALFSCSVV DVFTQLNQSF EIIRKLECPD PSILAHYMRR 

      1150       1160       1170       1180       1190       1200 
FAKTIGKVLM QYADILSKDF PAYCTKEKLP CILMNNVQQL RVQLEKMFEA MGGKELDLEA 

      1210       1220       1230       1240       1250       1260 
ADSLKELQVK LNTVLDELSM VFGNSFQVRI DECVRQMADI LGQVRGTGNA SPDARASAAQ 

      1270       1280       1290       1300       1310       1320 
DADSVLRPLM DFLDGNLTLF ATVCEKTVLK RVLKELWRVV MNTMERMIVL PPLTDQTGTQ 

      1330       1340       1350       1360       1370       1380 
LIFTAAKELS HLSKLKDHMV REETRNLTPK QCAVLDLALD TIKQYFHAGG NGLKKTFLEK 

      1390       1400       1410       1420       1430       1440 
SPDLQSLRYA LSLYTQTTDT LIKTFVRSQT TQGSGVDDPV GEVSIQVDLF THPGTGEHKV 

      1450       1460       1470       1480       1490       1500 
TVKVVAANDL KWQTAGMFRP FVEVTMVGPH QSDKKRKFTT KSKSNNWAPK YNETFHFLLG 

      1510       1520       1530       1540       1550       1560 
NEEGPESYEL QICVKDYCFA REDRVLGLAV MPLRDVTAKG SCACWCPLGR KIHMDETGLT 

      1570       1580       1590 
ILRILSQRSN DEVAREFVKL KSESRSTEEG S 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy."
Song Y., Ailenberg M., Silverman M.
Kidney Int. 53:1689-1695(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Kidney.
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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. expand/collapse author list , 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].
[4]"Human munc13 is a diacylglycerol receptor that induces apoptosis and may contribute to renal cell injury in hyperglycemia."
Song Y., Ailenberg M., Silverman M.
Mol. Biol. Cell 10:1609-1619(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[5]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-209.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF020202 mRNA. Translation: AAC19406.1.
AL353795, AL160274, AL354669 Genomic DNA. Translation: CAH71004.1.
AL354669, AL160274, AL353795 Genomic DNA. Translation: CAH71208.1.
AL160274, AL353795, AL354669 Genomic DNA. Translation: CAH73361.1.
CH471071 Genomic DNA. Translation: EAW58383.1.
RefSeqNP_006368.3. NM_006377.3.
UniGeneHs.493791.

3D structure databases

ProteinModelPortalO14795.
SMRO14795. Positions 2-128, 370-404, 448-730, 1063-1396, 1415-1549.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115759. 12 interactions.
IntActO14795. 2 interactions.
MINTMINT-1395851.
STRING9606.ENSP00000367756.

PTM databases

PhosphoSiteO14795.

Proteomic databases

PaxDbO14795.
PRIDEO14795.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378495; ENSP00000367756; ENSG00000198722.
GeneID10497.
KEGGhsa:10497.
UCSCuc003zwq.3. human.

Organism-specific databases

CTD10497.
GeneCardsGC09P035117.
H-InvDBHIX0034747.
HGNCHGNC:12566. UNC13B.
HPAHPA024493.
MIM605836. gene.
neXtProtNX_O14795.
PharmGKBPA37203.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245727.
HOVERGENHBG057340.
KOK15293.
PhylomeDBO14795.
TreeFamTF312844.

Gene expression databases

ArrayExpressO14795.
BgeeO14795.
CleanExHS_UNC13B.
GenevestigatorO14795.

Family and domain databases

Gene3D2.60.40.150. 3 hits.
InterProIPR000008. C2_dom.
IPR010439. Ca-dep_secretion_activator.
IPR014770. Munc13_1.
IPR014772. Munc13_dom-2.
IPR019558. Munc13_subgr_dom-2.
IPR002219. Prot_Kinase_C-like_PE/DAG-bd.
IPR027080. Unc-13.
[Graphical view]
PANTHERPTHR10480. PTHR10480. 1 hit.
PfamPF00130. C1_1. 1 hit.
PF00168. C2. 3 hits.
PF06292. DUF1041. 1 hit.
PF10540. Membr_traf_MHD. 1 hit.
[Graphical view]
PRINTSPR00360. C2DOMAIN.
SMARTSM00109. C1. 1 hit.
SM00239. C2. 3 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 3 hits.
PROSITEPS50004. C2. 2 hits.
PS51258. MHD1. 1 hit.
PS51259. MHD2. 1 hit.
PS00479. ZF_DAG_PE_1. 1 hit.
PS50081. ZF_DAG_PE_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiUNC13B.
GenomeRNAi10497.
NextBio39832.
PROO14795.
SOURCESearch...

Entry information

Entry nameUN13B_HUMAN
AccessionPrimary (citable) accession number: O14795
Secondary accession number(s): Q5VYM8
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 13, 2007
Last modified: April 16, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM