Q70J99 (UN13D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein unc-13 homolog D

Alternative name(s):
Munc13-4

Gene names

Name:

UNC13D

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1090 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.6 Ref.9
Subunit structure	Interacts with DOC2A By similarity. Interacts with RAB27A. Ref.6 Ref.9
Subcellular location	Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note: Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles. Ref.1 Ref.6 Ref.9
Tissue specificity	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. Ref.1 Ref.6
Domain	The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome. Ref.6 Ref.9
Involvement in disease	Familial hemophagocytic lymphohistiocytosis 3 (FHL3) [MIM:608898]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1
Sequence similarities	Belongs to the unc-13 family. Contains 2 C2 domains. Contains 1 MHD1 (MUNC13 homology domain 1) domain. Contains 1 MHD2 (MUNC13 homology domain 2) domain.
Sequence caution	The sequence BAB15764.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Exocytosis
Cellular component	Cytoplasm Endosome Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Familial hemophagocytic lymphohistiocytosis
Domain	Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	defense response to virus Inferred from electronic annotation. Source: Compara germinal center formation Inferred from electronic annotation. Source: Compara granuloma formation Inferred from electronic annotation. Source: Compara natural killer cell degranulation Inferred from electronic annotation. Source: Compara phagocytosis Inferred from electronic annotation. Source: Compara positive regulation of exocytosis Inferred from mutant phenotype Ref.6PubMed 19966785. Source: UniProtKB regulation of mast cell degranulation Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	exocytic vesicle Inferred from direct assay Ref.9. Source: UniProtKB late endosome Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from direct assay Ref.6. Source: UniProtKB membrane Inferred from electronic annotation. Source: UniProtKB-SubCell recycling endosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q70J99-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q70J99-2)

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.

Isoform 3 (identifier: Q70J99-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1090	1090	Protein unc-13 homolog D		PRO_0000188581
Regions
	Domain	98 – 221	124	C2 1
	Domain	557 – 677	121	MHD1
	Domain	788 – 895	108	MHD2
	Domain	912 – 1019	108	C2 2
	Region	240 – 543	304	Interaction with RAB27A
Amino acid modifications
	Modified residue	150	1	Phosphoserine Ref.10
Natural variations
	Alternative sequence	286	1	R → RVGRVLGQWPCPALAAVCWV AGLAAPSVRPCLLTEASLQ in isoform 2.		VSP_011385
	Alternative sequence	318 – 325	8	AGSTSWDG → VLPSWGWA in isoform 2.		VSP_011386
	Alternative sequence	326 – 1090	765	Missing in isoform 2.		VSP_011387
	Alternative sequence	1081 – 1090	10	ASQHALRPAP → GIGPSVSWPWPICLLAFLFQ PLGWGPGSLGPGLQAQSLLE KGEGTLPKMRLQLPWGEGGG HY in isoform 3.		VSP_037949
	Natural variant	59	1	A → T. Corresponds to variant rs9904366 [ dbSNP | Ensembl ].		VAR_052469
	Natural variant	858	1	H → Q. Corresponds to variant rs17496835 [ dbSNP | Ensembl ].		VAR_029771
	Natural variant	867	1	K → E. Corresponds to variant rs1135688 [ dbSNP | Ensembl ].		VAR_029772
Experimental info
	Mutagenesis	608 – 611	4	Missing: Abolishes localization to lysosomes and interaction with RAB27A. Ref.6
	Sequence conflict	137	1	L → P in BAG63031. Ref.3
	Sequence conflict	476	1	H → R in BAG63031. Ref.3
	Sequence conflict	590	1	Q → R in BAG63031. Ref.3
	Sequence conflict	796	1	K → E in BAG63031. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: A71AD7A4E32C940C	FASTA	1,090	123,282
	10 20 30 40 50 60 MATLLSHPQQ RPPFLRQAIK IRRRRVRDLQ DPPPQMAPEI QPPSHHFSPE QRALLYEDAL 70 80 90 100 110 120 YTVLHRLGHP EPNHVTEASE LLRYLQEAFH VEPEEHQQTL QRVRELEKPI FCLKATVKQA 130 140 150 160 170 180 KGILGKDVSG FSDPYCLLGI EQGVGVPGGS PGSRHRQKAV VRHTIPEEET HRTQVITQTL 190 200 210 220 230 240 NPVWDETFIL EFEDITNASF HLDMWDLDTV ESVRQKLGEL TDLHGLRRIF KEARKDKGQD 250 260 270 280 290 300 DFLGNVVLRL QDLRCREDQW YPLEPRTETY PDRGQCHLQF QLIHKRRATS ASRSQPSYTV 310 320 330 340 350 360 HLHLLQQLVS HEVTQHEAGS TSWDGSLSPQ AATVLFLHAT QKDLSDFHQS MAQWLAYSRL 370 380 390 400 410 420 YQSLEFPSSC LLHPITSIEY QWIQGRLKAE QQEELAASFS SLLTYGLSLI RRFRSVFPLS 430 440 450 460 470 480 VSDSPARLQS LLRVLVQMCK MKAFGELCPN TAPLPQLVTE ALQTGTTEWF HLKQQHHQPM 490 500 510 520 530 540 VQGIPEAGKA LLGLVQDVIG DLHQCQRTWD KIFHNTLKIH LFSMAFRELQ WLVAKRVQDH 550 560 570 580 590 600 TTVVGDVVSP EMGESLFQLY ISLKELCQLR MSSSERDGVL ALDNFHRWFQ PAIPSWLQKT 610 620 630 640 650 660 YNEALARVQR AVQMDELVPL GELTKHSTSA VDLSTCFAQI SHTARQLDWP DPEEAFMITV 670 680 690 700 710 720 KFVEDTCRLA LVYCSLIKAR ARELSSGQKD QGQAANMLCV VVNDMEQLRL VIGKLPAQLA 730 740 750 760 770 780 WEALEQRVGA VLEQGQLQNT LHAQLQSALA GLGHEIRTGV RTLAEQLEVG IAKHIQKLVG 790 800 810 820 830 840 VRESVLPEDA ILPLMKFLEV ELCYMNTNLV QENFSSLLTL LWTHTLTVLV EAAASQRSSS 850 860 870 880 890 900 LASNRLKIAL QNLEICFHAE GCGLPPKALH TATFQALQRD LELQAASSRE LIRKYFCSRI 910 920 930 940 950 960 QQQAETTSEE LGAVTVKASY RASEQKLRVE LLSASSLLPL DSNGSSDPFV QLTLEPRHEF 970 980 990 1000 1010 1020 PELAARETQK HKKDLHPLFD ETFEFLVPAE PCRKAGACLL LTVLDYDTLG ADDLEGEAFL 1030 1040 1050 1060 1070 1080 PLREVPGLSG SEEPGEVPQT RLPLTYPAPN GDPILQLLEG RKGDREAQVF VRLRRHRAKQ 1090 ASQHALRPAP
	Isoform 2 [UniParc]. Checksum: 0B16EF1B686C51CE	FASTA	363	41,642
	10 20 30 40 50 60 MATLLSHPQQ RPPFLRQAIK IRRRRVRDLQ DPPPQMAPEI QPPSHHFSPE QRALLYEDAL 70 80 90 100 110 120 YTVLHRLGHP EPNHVTEASE LLRYLQEAFH VEPEEHQQTL QRVRELEKPI FCLKATVKQA 130 140 150 160 170 180 KGILGKDVSG FSDPYCLLGI EQGVGVPGGS PGSRHRQKAV VRHTIPEEET HRTQVITQTL 190 200 210 220 230 240 NPVWDETFIL EFEDITNASF HLDMWDLDTV ESVRQKLGEL TDLHGLRRIF KEARKDKGQD 250 260 270 280 290 300 DFLGNVVLRL QDLRCREDQW YPLEPRTETY PDRGQCHLQF QLIHKRVGRV LGQWPCPALA 310 320 330 340 350 360 AVCWVAGLAA PSVRPCLLTE ASLQRATSAS RSQPSYTVHL HLLQQLVSHE VTQHEVLPSW GWA
	Isoform 3 [UniParc]. Checksum: 69183E35C9BB1AAF	FASTA	1,142	128,819
	10 20 30 40 50 60 MATLLSHPQQ RPPFLRQAIK IRRRRVRDLQ DPPPQMAPEI QPPSHHFSPE QRALLYEDAL 70 80 90 100 110 120 YTVLHRLGHP EPNHVTEASE LLRYLQEAFH VEPEEHQQTL QRVRELEKPI FCLKATVKQA 130 140 150 160 170 180 KGILGKDVSG FSDPYCLLGI EQGVGVPGGS PGSRHRQKAV VRHTIPEEET HRTQVITQTL 190 200 210 220 230 240 NPVWDETFIL EFEDITNASF HLDMWDLDTV ESVRQKLGEL TDLHGLRRIF KEARKDKGQD 250 260 270 280 290 300 DFLGNVVLRL QDLRCREDQW YPLEPRTETY PDRGQCHLQF QLIHKRRATS ASRSQPSYTV 310 320 330 340 350 360 HLHLLQQLVS HEVTQHEAGS TSWDGSLSPQ AATVLFLHAT QKDLSDFHQS MAQWLAYSRL 370 380 390 400 410 420 YQSLEFPSSC LLHPITSIEY QWIQGRLKAE QQEELAASFS SLLTYGLSLI RRFRSVFPLS 430 440 450 460 470 480 VSDSPARLQS LLRVLVQMCK MKAFGELCPN TAPLPQLVTE ALQTGTTEWF HLKQQHHQPM 490 500 510 520 530 540 VQGIPEAGKA LLGLVQDVIG DLHQCQRTWD KIFHNTLKIH LFSMAFRELQ WLVAKRVQDH 550 560 570 580 590 600 TTVVGDVVSP EMGESLFQLY ISLKELCQLR MSSSERDGVL ALDNFHRWFQ PAIPSWLQKT 610 620 630 640 650 660 YNEALARVQR AVQMDELVPL GELTKHSTSA VDLSTCFAQI SHTARQLDWP DPEEAFMITV 670 680 690 700 710 720 KFVEDTCRLA LVYCSLIKAR ARELSSGQKD QGQAANMLCV VVNDMEQLRL VIGKLPAQLA 730 740 750 760 770 780 WEALEQRVGA VLEQGQLQNT LHAQLQSALA GLGHEIRTGV RTLAEQLEVG IAKHIQKLVG 790 800 810 820 830 840 VRESVLPEDA ILPLMKFLEV ELCYMNTNLV QENFSSLLTL LWTHTLTVLV EAAASQRSSS 850 860 870 880 890 900 LASNRLKIAL QNLEICFHAE GCGLPPKALH TATFQALQRD LELQAASSRE LIRKYFCSRI 910 920 930 940 950 960 QQQAETTSEE LGAVTVKASY RASEQKLRVE LLSASSLLPL DSNGSSDPFV QLTLEPRHEF 970 980 990 1000 1010 1020 PELAARETQK HKKDLHPLFD ETFEFLVPAE PCRKAGACLL LTVLDYDTLG ADDLEGEAFL 1030 1040 1050 1060 1070 1080 PLREVPGLSG SEEPGEVPQT RLPLTYPAPN GDPILQLLEG RKGDREAQVF VRLRRHRAKQ 1090 1100 1110 1120 1130 1140 GIGPSVSWPW PICLLAFLFQ PLGWGPGSLG PGLQAQSLLE KGEGTLPKMR LQLPWGEGGG HY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)." Feldmann J., Callebaut I., Raposo G., Certain S., Bacq D., Dumont C., Lambert N., Ouachee-Chardin M., Chedville G., Tamary H., Minard-Colin V., Vilmer E., Blanche S., Le Deist F., Fischer A., de Saint Basile G. Cell 115:461-473(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN FHL3. Tissue: Blood.
[2]	"Characterization of long cDNA clones from human adult spleen." Hattori A., Okumura K., Nagase T., Kikuno R., Hirosawa M., Ohara O. DNA Res. 7:357-366(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Spleen.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Synovium.
[4]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Pancreas.
[6]	"Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells." Neeft M., Wieffer M., de Jong A.S., Negroiu G., Metz C.H., van Loon A., Griffith J., Krijgsveld J., Wulffraat N., Koch H., Heck A.J.R., Brose N., Kleijmeer M., van der Sluijs P. Mol. Biol. Cell 16:731-741(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAB27A, TISSUE SPECIFICITY, DOMAIN, MUTAGENESIS OF 608-VAL--ALA-611.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[8]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[9]	"Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4." Menager M.M., Menasche G., Romao M., Knapnougel P., Ho C.-H., Garfa M., Raposo G., Feldmann J., Fischer A., de Saint Basile G. Nat. Immunol. 8:257-267(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAB27A, DOMAIN.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

UNC13Dbase

UNC13D mutation db

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00456635. IPI00456636. IPI00940441.
RefSeq	NP_954712.1. NM_199242.2.
UniGene	Hs.41045.
3D structure databases
ProteinModelPortal	Q70J99.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000207549.
PTM databases
PhosphoSite	Q70J99.
Polymorphism databases
DMDM	51316668.
Proteomic databases
PaxDb	Q70J99.
PeptideAtlas	Q70J99.
PRIDE	Q70J99.
Protocols and materials databases
DNASU	201294.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000207549; ENSP00000207549; ENSG00000092929. ENST00000412096; ENSP00000388093; ENSG00000092929.
GeneID	201294.
KEGG	hsa:201294.
UCSC	uc002jpp.3. human.
Organism-specific databases
CTD	201294.
GeneCards	GC17M073823.
HGNC	HGNC:23147. UNC13D.
MIM	608897. gene. 608898. phenotype.
neXtProt	NX_Q70J99.
Orphanet	540. Familial hemophagocytic lymphohistiocytosis.
PharmGKB	PA134919958.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG290002.
HOGENOM	HOG000060231.
HOVERGEN	HBG104909.
InParanoid	Q70J99.
OMA	PYCLLGI.
PhylomeDB	Q70J99.
Gene expression databases
Bgee	Q70J99.
CleanEx	HS_UNC13D.
Genevestigator	Q70J99.
GermOnline	ENSG00000092929. Homo sapiens.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR014770. Munc13_1. IPR014772. Munc13_dom-2. IPR019558. Munc13_subgr_dom-2. [Graphical view]
Pfam	PF00168. C2. 2 hits. PF10540. Membr_traf_MHD. 1 hit. [Graphical view]
SMART	SM00239. C2. 2 hits. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 2 hits.
PROSITE	PS50004. C2. 2 hits. PS51258. MHD1. 1 hit. PS51259. MHD2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	201294.
NextBio	90129.
SOURCE	Search...

Entry information

Entry name

UN13D_HUMAN

Accession

Primary (citable) accession number: Q70J99
Secondary accession number(s): B4DWG9, Q9H7K5

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.