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O14795

- UN13B_HUMAN

UniProt

O14795 - UN13B_HUMAN

Protein

Protein unc-13 homolog B

Gene

UNC13B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri477 – 52751Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. diacylglycerol binding Source: InterPro
    2. metal ion binding Source: UniProtKB-KW
    3. protein binding Source: UniProt
    4. receptor activity Source: ProtInc
    5. signal transducer activity Source: ProtInc

    GO - Biological processi

    1. apoptotic process Source: ProtInc
    2. excretion Source: ProtInc
    3. innervation Source: Ensembl
    4. intracellular signal transduction Source: InterPro
    5. neuromuscular junction development Source: Ensembl
    6. regulation of short-term neuronal synaptic plasticity Source: Ensembl
    7. signal transduction Source: ProtInc
    8. synaptic transmission, glutamatergic Source: Ensembl
    9. synaptic vesicle docking involved in exocytosis Source: Ensembl
    10. synaptic vesicle priming Source: Ensembl

    Keywords - Biological processi

    Exocytosis

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_12591. Glutamate Neurotransmitter Release Cycle.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein unc-13 homolog B
    Alternative name(s):
    Munc13-2
    Short name:
    munc13
    Gene namesi
    Name:UNC13B
    Synonyms:UNC13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:12566. UNC13B.

    Subcellular locationi

    Cytoplasm By similarity. Membrane By similarity; 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.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytoplasm Source: ProtInc
    3. cytosol Source: UniProt
    4. Golgi apparatus Source: UniProt
    5. neuromuscular junction Source: Ensembl
    6. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Membrane, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37203.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15911591Protein unc-13 homolog BPRO_0000188575Add
    BLAST

    Proteomic databases

    MaxQBiO14795.
    PaxDbiO14795.
    PRIDEiO14795.

    PTM databases

    PhosphoSiteiO14795.

    Expressioni

    Tissue specificityi

    Expressed in kidney cortical epithelial cells and brain.1 Publication

    Gene expression databases

    ArrayExpressiO14795.
    BgeeiO14795.
    CleanExiHS_UNC13B.
    GenevestigatoriO14795.

    Organism-specific databases

    HPAiHPA024493.

    Interactioni

    Subunit structurei

    Interacts with RIMS1.By similarity

    Protein-protein interaction databases

    BioGridi115759. 12 interactions.
    IntActiO14795. 2 interactions.
    MINTiMINT-1395851.
    STRINGi9606.ENSP00000367756.

    Structurei

    3D structure databases

    ProteinModelPortaliO14795.
    SMRiO14795. Positions 2-128, 478-730, 1063-1396, 1438-1548.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 7979C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini587 – 693107C2 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1013 – 1156144MHD1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1263 – 1405143MHD2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1425 – 1530106C2 3PROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1172 – 120231Sequence AnalysisAdd
    BLAST

    Domaini

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

    Sequence similaritiesi

    Belongs to the unc-13 family.Curated
    Contains 3 C2 domains.PROSITE-ProRule annotation
    Contains 1 MHD1 (MUNC13 homology domain 1) domain.PROSITE-ProRule annotation
    Contains 1 MHD2 (MUNC13 homology domain 2) domain.PROSITE-ProRule annotation
    Contains 1 phorbol-ester/DAG-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri477 – 52751Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG245727.
    HOVERGENiHBG057340.
    KOiK15293.
    PhylomeDBiO14795.
    TreeFamiTF312844.

    Family and domain databases

    Gene3Di2.60.40.150. 3 hits.
    InterProiIPR000008. 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]
    PANTHERiPTHR10480. PTHR10480. 1 hit.
    PfamiPF00130. C1_1. 1 hit.
    PF00168. C2. 3 hits.
    PF06292. DUF1041. 1 hit.
    PF10540. Membr_traf_MHD. 1 hit.
    [Graphical view]
    PRINTSiPR00360. C2DOMAIN.
    SMARTiSM00109. C1. 1 hit.
    SM00239. C2. 3 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 3 hits.
    PROSITEiPS50004. 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]

    Sequencei

    Sequence statusi: Complete.

    O14795-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSLLCVRVKR AKFQGSPDKF NTYVTLKVQN VKSTTVAVRG DQPSWEQDFM     50
    FEISRLDLGL SVEVWNKGLI WDTMVGTVWI ALKTIRQSDE EGPGEWSTLE 100
    AETLMKDDEI CGTRNPTPHK ILLDTRFELP FDIPEEEARY WTYKWEQINA 150
    LGADNEYSSQ EESQRKPLPT AAAQCSFEDP DSAVDDRDSD YRSETSNSFP 200
    PPYHTASQPN ASVHQFPVPV RSPQQLLLQG SSRDSCNDSM QSYDLDYPER 250
    RAISPTSSSR YGSSCNVSQG SSQLSELDQY HEQDDDHRET DSIHSCHSSH 300
    SLSRDGQAGF GEQEKPLEVT GQAEKEAACE PKEMKEDATT HPPPDLVLQK 350
    DHFLGPQESF PEENASSPFT QARAHWIRAV TKVRLQLQEI PDDGDPSLPQ 400
    WLPEGPAGGL YGIDSMPDLR RKKPLPLVSD LSLVQSRKAG ITSAMATRTS 450
    LKDEELKSHV YKKTLQALIY PISCTTPHNF EVWTATTPTY CYECEGLLWG 500
    IARQGMRCSE CGVKCHEKCQ DLLNADCLQR AAEKSCKHGA EDRTQNIIMA 550
    MKDRMKIRER NKPEIFEVIR DVFTVNKAAH VQQMKTVKQS VLDGTSKWSA 600
    KITITVVCAQ GLQAKDKTGS SDPYVTVQVS KTKKRTKTIF GNLNPVWEEK 650
    FHFECHNSSD RIKVRVWDED DDIKSRVKQR LKRESDDFLG QTIIEVRTLS 700
    GEMDVWYNLE KRTDKSAVSG AIRLQISVEI KGEEKVAPYH VQYTCLHENL 750
    FHYLTDIQGS GGVRIPEARG DDAWKVYFDE TAQEIVDEFA MRYGIESIYQ 800
    AMTHFACLSS KYMCPGVPAV MSTLLANINA YYAHTTASTN VSASDRFAAS 850
    NFGKERFVKL LDQLHNSLRI DLSTYRNNFP AGSPERLQDL KSTVDLLTSI 900
    TFFRMKVQEL QSPPRASQVV KDCVKACLNS TYEYIFNNCH DLYSRQYQLK 950
    QELPPEEQGP SIRNLDFWPK LITLIVSIIE EDKNSYTPVL NQFPQELNVG 1000
    KVSAEVMWHL FAQDMKYALE EHEKDHLCKS ADYMNLHFKV KWLHNEYVRD 1050
    LPVLQGQVPE YPAWFEQFVL QWLDENEDVS LEFLRGALER DKKDGFQQTS 1100
    EHALFSCSVV DVFTQLNQSF EIIRKLECPD PSILAHYMRR FAKTIGKVLM 1150
    QYADILSKDF PAYCTKEKLP CILMNNVQQL RVQLEKMFEA MGGKELDLEA 1200
    ADSLKELQVK LNTVLDELSM VFGNSFQVRI DECVRQMADI LGQVRGTGNA 1250
    SPDARASAAQ DADSVLRPLM DFLDGNLTLF ATVCEKTVLK RVLKELWRVV 1300
    MNTMERMIVL PPLTDQTGTQ LIFTAAKELS HLSKLKDHMV REETRNLTPK 1350
    QCAVLDLALD TIKQYFHAGG NGLKKTFLEK SPDLQSLRYA LSLYTQTTDT 1400
    LIKTFVRSQT TQGSGVDDPV GEVSIQVDLF THPGTGEHKV TVKVVAANDL 1450
    KWQTAGMFRP FVEVTMVGPH QSDKKRKFTT KSKSNNWAPK YNETFHFLLG 1500
    NEEGPESYEL QICVKDYCFA REDRVLGLAV MPLRDVTAKG SCACWCPLGR 1550
    KIHMDETGLT ILRILSQRSN DEVAREFVKL KSESRSTEEG S 1591
    Length:1,591
    Mass (Da):180,679
    Last modified:November 13, 2007 - v2
    Checksum:iFBE8D85C55A8D780
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1207 – 12071L → P in AAC19406. (PubMed:9607201)Curated
    Sequence conflicti1404 – 14041T → R in AAC19406. (PubMed:9607201)Curated
    Sequence conflicti1497 – 14971F → L in AAC19406. (PubMed:9607201)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091P → S in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036615
    Natural varianti238 – 2381D → E.
    Corresponds to variant rs35199210 [ dbSNP | Ensembl ].
    VAR_037273
    Natural varianti1232 – 12321E → D.
    Corresponds to variant rs12339582 [ dbSNP | Ensembl ].
    VAR_037274

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS6579.1.
    RefSeqiNP_006368.3. NM_006377.3.
    UniGeneiHs.493791.

    Genome annotation databases

    EnsembliENST00000378495; ENSP00000367756; ENSG00000198722.
    GeneIDi10497.
    KEGGihsa:10497.
    UCSCiuc003zwq.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS6579.1.
    RefSeqi NP_006368.3. NM_006377.3.
    UniGenei Hs.493791.

    3D structure databases

    ProteinModelPortali O14795.
    SMRi O14795. Positions 2-128, 478-730, 1063-1396, 1438-1548.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115759. 12 interactions.
    IntActi O14795. 2 interactions.
    MINTi MINT-1395851.
    STRINGi 9606.ENSP00000367756.

    PTM databases

    PhosphoSitei O14795.

    Proteomic databases

    MaxQBi O14795.
    PaxDbi O14795.
    PRIDEi O14795.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378495 ; ENSP00000367756 ; ENSG00000198722 .
    GeneIDi 10497.
    KEGGi hsa:10497.
    UCSCi uc003zwq.3. human.

    Organism-specific databases

    CTDi 10497.
    GeneCardsi GC09P035117.
    H-InvDB HIX0034747.
    HGNCi HGNC:12566. UNC13B.
    HPAi HPA024493.
    MIMi 605836. gene.
    neXtProti NX_O14795.
    PharmGKBi PA37203.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245727.
    HOVERGENi HBG057340.
    KOi K15293.
    PhylomeDBi O14795.
    TreeFami TF312844.

    Enzyme and pathway databases

    Reactomei REACT_12591. Glutamate Neurotransmitter Release Cycle.

    Miscellaneous databases

    GeneWikii UNC13B.
    GenomeRNAii 10497.
    NextBioi 39832.
    PROi O14795.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O14795.
    Bgeei O14795.
    CleanExi HS_UNC13B.
    Genevestigatori O14795.

    Family and domain databases

    Gene3Di 2.60.40.150. 3 hits.
    InterProi IPR000008. 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 ]
    PANTHERi PTHR10480. PTHR10480. 1 hit.
    Pfami PF00130. C1_1. 1 hit.
    PF00168. C2. 3 hits.
    PF06292. DUF1041. 1 hit.
    PF10540. Membr_traf_MHD. 1 hit.
    [Graphical view ]
    PRINTSi PR00360. C2DOMAIN.
    SMARTi SM00109. C1. 1 hit.
    SM00239. C2. 3 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 3 hits.
    PROSITEi PS50004. 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 ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-209.

    Entry informationi

    Entry nameiUN13B_HUMAN
    AccessioniPrimary (citable) accession number: O14795
    Secondary accession number(s): Q5VYM8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2004
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 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 9
      Human chromosome 9: 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