Cell atlas - UNC13D - The Human Protein Atlas

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UNC13D

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol

Human cell
	Cytosol

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GENERAL INFORMATION
Gene name	UNC13D
Gene description	Unc-13 homolog D (C. elegans)
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the cytosol.
RNA cell category	Cell line enhanced (HEL, HMC-1)
Protein evidence	Evidence at protein level
Main location	Localized to the Cytosol (supported)

DATA RELIABILITY
Reliability score	Supported based on 2 antibodies. HPA067117 , HPA073525
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (HEL, HMC-1) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the cytosol.

Main location

Cytosol (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA067117	HeLa	No staining
	HPA067117	SH-SY5Y	No staining
	HPA067117	U-2 OS	Cytosol
	HPA073525	U-2 OS	Cytosol

GENE INFORMATION
Gene name	UNC13D (HGNC Symbol)
Synonyms	Munc13-4
Description	Unc-13 homolog D (C. elegans) (HGNC Symbol)
Entrez gene summary	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
Chromosome	17
Cytoband	q25.1
Chromosome location (bp)	75827225 - 75844717
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000092929 (version 83.38)
Entrez gene	201294
UniProt	Q70J99 (UniProt - Evidence at protein level)
neXtProt	NX_Q70J99
Antibodypedia	UNC13D antibodies

PROTEIN BROWSER

UNC13D-001	UNC13D-004	UNC13D-006	UNC13D-008	UNC13D-009	UNC13D-016	UNC13D-017

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
UNC13D-001 ENSP00000207549 ENST00000207549	Q70J99 [Direct mapping] Protein unc-13 homolog D Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0002432 [granuloma formation] GO:0002467 [germinal center formation] GO:0005515 [protein binding] GO:0005764 [lysosome] GO:0005770 [late endosome] GO:0006909 [phagocytosis] GO:0016020 [membrane] GO:0017137 [Rab GTPase binding] GO:0033093 [Weibel-Palade body] GO:0043304 [regulation of mast cell degranulation] GO:0043320 [natural killer cell degranulation] GO:0045921 [positive regulation of exocytosis] GO:0051607 [defense response to virus] GO:0055037 [recycling endosome] GO:0070382 [exocytic vesicle] GO:1900026 [positive regulation of substrate adhesion-dependent cell spreading] GO:1903307 [positive regulation of regulated secretory pathway] Show all	1090 aa 123.3 kDa	No	0
UNC13D-004 ENSP00000388093 ENST00000412096	Q70J99 [Direct mapping] Protein unc-13 homolog D Show all	SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005764 [lysosome] GO:0005770 [late endosome] GO:0016020 [membrane] GO:0017137 [Rab GTPase binding] GO:0033093 [Weibel-Palade body] GO:0043304 [regulation of mast cell degranulation] GO:0045921 [positive regulation of exocytosis] GO:0055037 [recycling endosome] GO:0070382 [exocytic vesicle] GO:1903307 [positive regulation of regulated secretory pathway] Show all	1142 aa 128.8 kDa	No	0
UNC13D-006 ENSP00000464749 ENST00000586108	K7EIH3 [Direct mapping] Protein unc-13 homolog D Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	170 aa 19.4 kDa	No	0
UNC13D-008 ENSP00000467653 ENST00000590762	K7EQ37 [Direct mapping] Protein unc-13 homolog D Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	267 aa 30.7 kDa	No	0
UNC13D-009 ENSP00000466543 ENST00000586147	K7EMK8 [Direct mapping] Protein unc-13 homolog D Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		188 aa 21.9 kDa	No	0
UNC13D-016 ENSP00000466826 ENST00000592386	K7EN81 [Direct mapping] Protein unc-13 homolog D Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	310 aa 36 kDa	No	0
UNC13D-017 ENSP00000466758 ENST00000589670	K7EN29 [Direct mapping] Protein unc-13 homolog D Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	146 aa 16.2 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.