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Entry version 136 (18 Sep 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Protein unc-13 homolog D

Gene

UNC13D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca2+-dependent secretory lysosome exocytosis in mast cells.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processExocytosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein unc-13 homolog D
Alternative name(s):
Munc13-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UNC13D
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:23147 UNC13D

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608897 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q70J99

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Familial hemophagocytic lymphohistiocytosis 3 (FHL3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi608 – 611Missing : Abolishes localization to lysosomes and interaction with RAB27A. 1 Publication4

Keywords - Diseasei

Familial hemophagocytic lymphohistiocytosis

Organism-specific databases

DisGeNET

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DisGeNETi
201294

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
UNC13D

MalaCards human disease database

More...
MalaCardsi
UNC13D
MIMi608898 phenotype

Open Targets

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OpenTargetsi
ENSG00000092929

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
540 Familial hemophagocytic lymphohistiocytosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134919958

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
UNC13D

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51316668

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001885811 – 1090Protein unc-13 homolog DAdd BLAST1090

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei150PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q70J99

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q70J99

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q70J99

MaxQB - The MaxQuant DataBase

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MaxQBi
Q70J99

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q70J99

PeptideAtlas

More...
PeptideAtlasi
Q70J99

PRoteomics IDEntifications database

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PRIDEi
Q70J99

ProteomicsDB human proteome resource

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ProteomicsDBi
68558 [Q70J99-1]
68559 [Q70J99-2]
68560 [Q70J99-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q70J99

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q70J99

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000092929 Expressed in 163 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q70J99 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q70J99 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA067117
HPA073525

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with DOC2A (By similarity).

Interacts with RAB27A.

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128383, 10 interactors

Protein interaction database and analysis system

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IntActi
Q70J99, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000207549

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q70J99

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini98 – 221C2 1PROSITE-ProRule annotationAdd BLAST124
Domaini557 – 677MHD1PROSITE-ProRule annotationAdd BLAST121
Domaini788 – 895MHD2PROSITE-ProRule annotationAdd BLAST108
Domaini912 – 1019C2 2PROSITE-ProRule annotationAdd BLAST108

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni240 – 543Interaction with RAB27AAdd BLAST304

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome.2 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the unc-13 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1328 Eukaryota
ENOG410Z3Q9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000110939

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000060231

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q70J99

KEGG Orthology (KO)

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KOi
K19728

Identification of Orthologs from Complete Genome Data

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OMAi
CHLQFQL

Database of Orthologous Groups

More...
OrthoDBi
649559at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q70J99

TreeFam database of animal gene trees

More...
TreeFami
TF315526

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.150, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR014770 Munc13_1
IPR014772 Munc13_dom-2
IPR019558 Munc13_subgr_dom-2

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 2 hits
PF10540 Membr_traf_MHD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004 C2, 2 hits
PS51258 MHD1, 1 hit
PS51259 MHD2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q70J99-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATLLSHPQQ RPPFLRQAIK IRRRRVRDLQ DPPPQMAPEI QPPSHHFSPE
60 70 80 90 100
QRALLYEDAL YTVLHRLGHP EPNHVTEASE LLRYLQEAFH VEPEEHQQTL
110 120 130 140 150
QRVRELEKPI FCLKATVKQA KGILGKDVSG FSDPYCLLGI EQGVGVPGGS
160 170 180 190 200
PGSRHRQKAV VRHTIPEEET HRTQVITQTL NPVWDETFIL EFEDITNASF
210 220 230 240 250
HLDMWDLDTV ESVRQKLGEL TDLHGLRRIF KEARKDKGQD DFLGNVVLRL
260 270 280 290 300
QDLRCREDQW YPLEPRTETY PDRGQCHLQF QLIHKRRATS ASRSQPSYTV
310 320 330 340 350
HLHLLQQLVS HEVTQHEAGS TSWDGSLSPQ AATVLFLHAT QKDLSDFHQS
360 370 380 390 400
MAQWLAYSRL YQSLEFPSSC LLHPITSIEY QWIQGRLKAE QQEELAASFS
410 420 430 440 450
SLLTYGLSLI RRFRSVFPLS VSDSPARLQS LLRVLVQMCK MKAFGELCPN
460 470 480 490 500
TAPLPQLVTE ALQTGTTEWF HLKQQHHQPM VQGIPEAGKA LLGLVQDVIG
510 520 530 540 550
DLHQCQRTWD KIFHNTLKIH LFSMAFRELQ WLVAKRVQDH TTVVGDVVSP
560 570 580 590 600
EMGESLFQLY ISLKELCQLR MSSSERDGVL ALDNFHRWFQ PAIPSWLQKT
610 620 630 640 650
YNEALARVQR AVQMDELVPL GELTKHSTSA VDLSTCFAQI SHTARQLDWP
660 670 680 690 700
DPEEAFMITV KFVEDTCRLA LVYCSLIKAR ARELSSGQKD QGQAANMLCV
710 720 730 740 750
VVNDMEQLRL VIGKLPAQLA WEALEQRVGA VLEQGQLQNT LHAQLQSALA
760 770 780 790 800
GLGHEIRTGV RTLAEQLEVG IAKHIQKLVG VRESVLPEDA ILPLMKFLEV
810 820 830 840 850
ELCYMNTNLV QENFSSLLTL LWTHTLTVLV EAAASQRSSS LASNRLKIAL
860 870 880 890 900
QNLEICFHAE GCGLPPKALH TATFQALQRD LELQAASSRE LIRKYFCSRI
910 920 930 940 950
QQQAETTSEE LGAVTVKASY RASEQKLRVE LLSASSLLPL DSNGSSDPFV
960 970 980 990 1000
QLTLEPRHEF PELAARETQK HKKDLHPLFD ETFEFLVPAE PCRKAGACLL
1010 1020 1030 1040 1050
LTVLDYDTLG ADDLEGEAFL PLREVPGLSG SEEPGEVPQT RLPLTYPAPN
1060 1070 1080 1090
GDPILQLLEG RKGDREAQVF VRLRRHRAKQ ASQHALRPAP
Length:1,090
Mass (Da):123,282
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA71AD7A4E32C940C
GO
Isoform 2 (identifier: Q70J99-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     286-286: R → RVGRVLGQWPCPALAAVCWVAGLAAPSVRPCLLTEASLQ
     318-325: AGSTSWDG → VLPSWGWA
     326-1090: Missing.

Note: No experimental confirmation available.
Show »
Length:363
Mass (Da):41,642
Checksum:i0B16EF1B686C51CE
GO
Isoform 3 (identifier: Q70J99-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1081-1090: ASQHALRPAP → GIGPSVSWPWPICLLAFLFQPLGWGPGSLGPGLQAQSLLEKGEGTLPKMRLQLPWGEGGGHY

Note: No experimental confirmation available.
Show »
Length:1,142
Mass (Da):128,819
Checksum:i69183E35C9BB1AAF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EMK8K7EMK8_HUMAN
Protein unc-13 homolog D
UNC13D
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EN81K7EN81_HUMAN
Protein unc-13 homolog D
UNC13D
310Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EQ37K7EQ37_HUMAN
Protein unc-13 homolog D
UNC13D
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EN29K7EN29_HUMAN
Protein unc-13 homolog D
UNC13D
146Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EIH3K7EIH3_HUMAN
Protein unc-13 homolog D
UNC13D
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EM66K7EM66_HUMAN
Protein unc-13 homolog D
UNC13D
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ELN2K7ELN2_HUMAN
Protein unc-13 homolog D
UNC13D
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15764 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti137L → P in BAG63031 (PubMed:14702039).Curated1
Sequence conflicti476H → R in BAG63031 (PubMed:14702039).Curated1
Sequence conflicti590Q → R in BAG63031 (PubMed:14702039).Curated1
Sequence conflicti796K → E in BAG63031 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05246959A → T. Corresponds to variant dbSNP:rs9904366EnsemblClinVar.1
Natural variantiVAR_029771858H → Q. Corresponds to variant dbSNP:rs17496835Ensembl.1
Natural variantiVAR_029772867K → E. Corresponds to variant dbSNP:rs1135688EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_011385286R → RVGRVLGQWPCPALAAVCWV AGLAAPSVRPCLLTEASLQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_011386318 – 325AGSTSWDG → VLPSWGWA in isoform 2. 1 Publication8
Alternative sequenceiVSP_011387326 – 1090Missing in isoform 2. 1 PublicationAdd BLAST765
Alternative sequenceiVSP_0379491081 – 1090ASQHALRPAP → GIGPSVSWPWPICLLAFLFQ PLGWGPGSLGPGLQAQSLLE KGEGTLPKMRLQLPWGEGGG HY in isoform 3. 1 Publication10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ578444 mRNA Translation: CAE17516.1
AK024474 mRNA Translation: BAB15764.1 Different initiation.
AK301529 mRNA Translation: BAG63031.1
AC087289 Genomic DNA No translation available.
BC067084 mRNA Translation: AAH67084.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11730.1 [Q70J99-1]

NCBI Reference Sequences

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RefSeqi
NP_954712.1, NM_199242.2 [Q70J99-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000207549; ENSP00000207549; ENSG00000092929 [Q70J99-1]
ENST00000412096; ENSP00000388093; ENSG00000092929 [Q70J99-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
201294

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:201294

UCSC genome browser

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UCSCi
uc002jpp.5 human [Q70J99-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

UNC13Dbase

UNC13D mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ578444 mRNA Translation: CAE17516.1
AK024474 mRNA Translation: BAB15764.1 Different initiation.
AK301529 mRNA Translation: BAG63031.1
AC087289 Genomic DNA No translation available.
BC067084 mRNA Translation: AAH67084.1
CCDSiCCDS11730.1 [Q70J99-1]
RefSeqiNP_954712.1, NM_199242.2 [Q70J99-1]

3D structure databases

SMRiQ70J99
ModBaseiSearch...

Protein-protein interaction databases

BioGridi128383, 10 interactors
IntActiQ70J99, 1 interactor
STRINGi9606.ENSP00000207549

PTM databases

iPTMnetiQ70J99
PhosphoSitePlusiQ70J99

Polymorphism and mutation databases

BioMutaiUNC13D
DMDMi51316668

Proteomic databases

EPDiQ70J99
jPOSTiQ70J99
MassIVEiQ70J99
MaxQBiQ70J99
PaxDbiQ70J99
PeptideAtlasiQ70J99
PRIDEiQ70J99
ProteomicsDBi68558 [Q70J99-1]
68559 [Q70J99-2]
68560 [Q70J99-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
201294
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000207549; ENSP00000207549; ENSG00000092929 [Q70J99-1]
ENST00000412096; ENSP00000388093; ENSG00000092929 [Q70J99-3]
GeneIDi201294
KEGGihsa:201294
UCSCiuc002jpp.5 human [Q70J99-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
201294
DisGeNETi201294

GeneCards: human genes, protein and diseases

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GeneCardsi
UNC13D
GeneReviewsiUNC13D
HGNCiHGNC:23147 UNC13D
HPAiHPA067117
HPA073525
MalaCardsiUNC13D
MIMi608897 gene
608898 phenotype
neXtProtiNX_Q70J99
OpenTargetsiENSG00000092929
Orphaneti540 Familial hemophagocytic lymphohistiocytosis
PharmGKBiPA134919958

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1328 Eukaryota
ENOG410Z3Q9 LUCA
GeneTreeiENSGT00730000110939
HOGENOMiHOG000060231
InParanoidiQ70J99
KOiK19728
OMAiCHLQFQL
OrthoDBi649559at2759
PhylomeDBiQ70J99
TreeFamiTF315526

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
UNC13D human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
UNC13D

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
201294

Pharos

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Pharosi
Q70J99

Protein Ontology

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PROi
PR:Q70J99

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000092929 Expressed in 163 organ(s), highest expression level in blood
ExpressionAtlasiQ70J99 baseline and differential
GenevisibleiQ70J99 HS

Family and domain databases

Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR014770 Munc13_1
IPR014772 Munc13_dom-2
IPR019558 Munc13_subgr_dom-2
PfamiView protein in Pfam
PF00168 C2, 2 hits
PF10540 Membr_traf_MHD, 1 hit
SMARTiView protein in SMART
SM00239 C2, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits
PS51258 MHD1, 1 hit
PS51259 MHD2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUN13D_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q70J99
Secondary accession number(s): B4DWG9, Q9H7K5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: July 5, 2004
Last modified: September 18, 2019
This is version 136 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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