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O14795

- UN13B_HUMAN

UniProt

O14795 - UN13B_HUMAN

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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

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. receptor activity Source: ProtInc
  4. 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. positive regulation of inhibitory postsynaptic membrane potential Source: ParkinsonsUK-UCL
  7. positive regulation of synaptic vesicle priming Source: ParkinsonsUK-UCL
  8. regulation of short-term neuronal synaptic plasticity Source: Ensembl
  9. signal transduction Source: ProtInc
  10. synaptic transmission Source: ParkinsonsUK-UCL
  11. synaptic transmission, glutamatergic Source: Ensembl
  12. synaptic vesicle docking involved in exocytosis Source: Ensembl
  13. synaptic vesicle priming Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Biological processi

Exocytosis

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_12591. Glutamate Neurotransmitter Release Cycle.
REACT_15293. Dopamine Neurotransmitter Release Cycle.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
REACT_15425. Serotonin 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: ParkinsonsUK-UCL
  7. presynaptic active zone Source: ParkinsonsUK-UCL
  8. terminal bouton Source: ParkinsonsUK-UCL
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 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

BgeeiO14795.
CleanExiHS_UNC13B.
ExpressionAtlasiO14795. baseline and differential.
GenevestigatoriO14795.

Organism-specific databases

HPAiHPA024493.

Interactioni

Subunit structurei

Interacts with RIMS1.By similarity

Protein-protein interaction databases

BioGridi115759. 13 interactions.
IntActiO14795. 2 interactions.
MINTiMINT-1395851.
STRINGi9606.ENSP00000367756.

Structurei

3D structure databases

ProteinModelPortaliO14795.
SMRiO14795. Positions 2-128, 478-730, 1063-1396.
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.
GeneTreeiENSGT00730000110590.
HOVERGENiHBG057340.
InParanoidiO14795.
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. 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

        10         20         30         40         50
MSLLCVRVKR AKFQGSPDKF NTYVTLKVQN VKSTTVAVRG DQPSWEQDFM
60 70 80 90 100
FEISRLDLGL SVEVWNKGLI WDTMVGTVWI ALKTIRQSDE EGPGEWSTLE
110 120 130 140 150
AETLMKDDEI CGTRNPTPHK ILLDTRFELP FDIPEEEARY WTYKWEQINA
160 170 180 190 200
LGADNEYSSQ EESQRKPLPT AAAQCSFEDP DSAVDDRDSD YRSETSNSFP
210 220 230 240 250
PPYHTASQPN ASVHQFPVPV RSPQQLLLQG SSRDSCNDSM QSYDLDYPER
260 270 280 290 300
RAISPTSSSR YGSSCNVSQG SSQLSELDQY HEQDDDHRET DSIHSCHSSH
310 320 330 340 350
SLSRDGQAGF GEQEKPLEVT GQAEKEAACE PKEMKEDATT HPPPDLVLQK
360 370 380 390 400
DHFLGPQESF PEENASSPFT QARAHWIRAV TKVRLQLQEI PDDGDPSLPQ
410 420 430 440 450
WLPEGPAGGL YGIDSMPDLR RKKPLPLVSD LSLVQSRKAG ITSAMATRTS
460 470 480 490 500
LKDEELKSHV YKKTLQALIY PISCTTPHNF EVWTATTPTY CYECEGLLWG
510 520 530 540 550
IARQGMRCSE CGVKCHEKCQ DLLNADCLQR AAEKSCKHGA EDRTQNIIMA
560 570 580 590 600
MKDRMKIRER NKPEIFEVIR DVFTVNKAAH VQQMKTVKQS VLDGTSKWSA
610 620 630 640 650
KITITVVCAQ GLQAKDKTGS SDPYVTVQVS KTKKRTKTIF GNLNPVWEEK
660 670 680 690 700
FHFECHNSSD RIKVRVWDED DDIKSRVKQR LKRESDDFLG QTIIEVRTLS
710 720 730 740 750
GEMDVWYNLE KRTDKSAVSG AIRLQISVEI KGEEKVAPYH VQYTCLHENL
760 770 780 790 800
FHYLTDIQGS GGVRIPEARG DDAWKVYFDE TAQEIVDEFA MRYGIESIYQ
810 820 830 840 850
AMTHFACLSS KYMCPGVPAV MSTLLANINA YYAHTTASTN VSASDRFAAS
860 870 880 890 900
NFGKERFVKL LDQLHNSLRI DLSTYRNNFP AGSPERLQDL KSTVDLLTSI
910 920 930 940 950
TFFRMKVQEL QSPPRASQVV KDCVKACLNS TYEYIFNNCH DLYSRQYQLK
960 970 980 990 1000
QELPPEEQGP SIRNLDFWPK LITLIVSIIE EDKNSYTPVL NQFPQELNVG
1010 1020 1030 1040 1050
KVSAEVMWHL FAQDMKYALE EHEKDHLCKS ADYMNLHFKV KWLHNEYVRD
1060 1070 1080 1090 1100
LPVLQGQVPE YPAWFEQFVL QWLDENEDVS LEFLRGALER DKKDGFQQTS
1110 1120 1130 1140 1150
EHALFSCSVV DVFTQLNQSF EIIRKLECPD PSILAHYMRR FAKTIGKVLM
1160 1170 1180 1190 1200
QYADILSKDF PAYCTKEKLP CILMNNVQQL RVQLEKMFEA MGGKELDLEA
1210 1220 1230 1240 1250
ADSLKELQVK LNTVLDELSM VFGNSFQVRI DECVRQMADI LGQVRGTGNA
1260 1270 1280 1290 1300
SPDARASAAQ DADSVLRPLM DFLDGNLTLF ATVCEKTVLK RVLKELWRVV
1310 1320 1330 1340 1350
MNTMERMIVL PPLTDQTGTQ LIFTAAKELS HLSKLKDHMV REETRNLTPK
1360 1370 1380 1390 1400
QCAVLDLALD TIKQYFHAGG NGLKKTFLEK SPDLQSLRYA LSLYTQTTDT
1410 1420 1430 1440 1450
LIKTFVRSQT TQGSGVDDPV GEVSIQVDLF THPGTGEHKV TVKVVAANDL
1460 1470 1480 1490 1500
KWQTAGMFRP FVEVTMVGPH QSDKKRKFTT KSKSNNWAPK YNETFHFLLG
1510 1520 1530 1540 1550
NEEGPESYEL QICVKDYCFA REDRVLGLAV MPLRDVTAKG SCACWCPLGR
1560 1570 1580 1590
KIHMDETGLT ILRILSQRSN DEVAREFVKL KSESRSTEEG S
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115759. 13 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.
GeneTreei ENSGT00730000110590.
HOVERGENi HBG057340.
InParanoidi O14795.
KOi K15293.
PhylomeDBi O14795.
TreeFami TF312844.

Enzyme and pathway databases

Reactomei REACT_12591. Glutamate Neurotransmitter Release Cycle.
REACT_15293. Dopamine Neurotransmitter Release Cycle.
REACT_15309. Acetylcholine Neurotransmitter Release Cycle.
REACT_15418. Norepinephrine Neurotransmitter Release Cycle.
REACT_15425. Serotonin Neurotransmitter Release Cycle.

Miscellaneous databases

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

Gene expression databases

Bgeei O14795.
CleanExi HS_UNC13B.
ExpressionAtlasi O14795. baseline and differential.
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. 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: November 26, 2014
This is version 120 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