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O14795

- UN13B_HUMAN

UniProt

O14795 - UN13B_HUMAN

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Protein
Protein unc-13 homolog B
Gene
UNC13B, UNC13
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri477 – 52751Phorbol-ester/DAG-type
Add
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
Complete GO annotation...

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; 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.1 Publication

GO - Cellular componenti

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

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 B
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 7979C2 1
Add
BLAST
Domaini587 – 693107C2 2
Add
BLAST
Domaini1013 – 1156144MHD1
Add
BLAST
Domaini1263 – 1405143MHD2
Add
BLAST
Domaini1425 – 1530106C2 3
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1172 – 120231 Reviewed prediction
Add
BLAST

Domaini

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

Sequence similaritiesi

Belongs to the unc-13 family.
Contains 3 C2 domains.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1207 – 12071L → P in AAC19406. 1 Publication
Sequence conflicti1404 – 14041T → R in AAC19406. 1 Publication
Sequence conflicti1497 – 14971F → L in AAC19406. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 117 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

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