Property Summary

NCBI Gene PubMed Count 21
Grant Count 58
R01 Count 54
Funding $8,333,168.37
PubMed Score 61.87
PubTator Score 38.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma -1.400 0.000
posterior fossa group A ependymoma -2.900 0.000
glioblastoma -2.600 0.000
oligodendroglioma -1.200 0.000
medulloblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -2.800 0.000
medulloblastoma, large-cell -1.700 0.000
primitive neuroectodermal tumor -2.000 0.001
pediatric high grade glioma -2.200 0.000
pilocytic astrocytoma -1.900 0.000
subependymal giant cell astrocytoma -2.417 0.025
lung carcinoma 3.200 0.000
Pick disease -1.800 0.003

Gene RIF (12)

PMID Text
26162714 UNC13A rs12608932 is a risk factor for ALS and a modifying factor for survival and disease progression rate in a Spanish cohort.
24931836 UNC13A provides a novel link between amyotrophic lateral sclerosis and frontotemporal dementia and identifies changes in neurotransmitter release and synaptic function as a converging mechanism in the pathogenesis of ALS and FTD-TDP.
23830992 Munc13-1, on account of its role in both insulin and neurotransmitter exocytosis and through its binding properties, may be an important factor contributing to the development or progression of diabetic neuropathy.
23801330 CAPS1 binds to the full-length of cytoplasmic syntaxin-1 with preference to its "open" conformation, whereas Munc13-1 binds to the first 80 N-terminal residues of syntaxin-1.
22921269 This study demonistrated that UNC13A influences survival in Italian amyotrophic lateral sclerosis patients.
22248876 Here, we report that, like Rab3A, RIM and Munc13 are present in human sperm and that they play a functional role in acrosomal exocytosis before the acrosomal calcium efflux
22118904 Our results further corroborate the role of UNC13A in amyotrophic lateral sclerosis pathogenesis.
20385924 Observational study of gene-disease association. (HuGE Navigator)
20385924 Results do not provide evidence of an association between a variant in the UNC13A gene and susceptibility to sporadic Amyotrophic lateral sclerosis in a French homogeneous population.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MSLLCVGVKKAKFDGAQEKFNTYVTLKVQNVKSTTIAVRGSQPSWEQDFMFEINRLDLGLTVEVWNKGLI      1 - 70
WDTMVGTVWIPLRTIRQSNEEGPGEWLTLDSQVIMADSEICGTKDPTFHRILLDTRFELPLDIPEEEARY     71 - 140
WAKKLEQLNAMRDQDEYSFQDEQDKPLPVPSNQCCNWNYFGWGEQHNDDPDSAVDDRDSDYRSETSNSIP    141 - 210
PPYYTTSQPNASVHQYSVRPPPLGSRESYSDSMHSYEEFSEPQALSPTGSSRYASSGELSQGSSQLSEDF    211 - 280
DPDEHSLQGSDMEDERDRDSYHSCHSSVSYHKDSPRWDQDEEELEEDLEDFLEEEELPEDEEELEEEEEE    281 - 350
VPDDLGSYAQREDVAVAEPKDFKRISLPPAAPGKEDKAPVAPTEAPDMAKVAPKPATPDKVPAAEQIPEA    351 - 420
EPPKDEESFRPREDEEGQEGQDSMSRAKANWLRAFNKVRMQLQEARGEGEMSKSLWFKGGPGGGLIIIDS    421 - 490
MPDIRKRKPIPLVSDLAMSLVQSRKAGITSALASSTLNNEELKNHVYKKTLQALIYPISCTTPHNFEVWT    491 - 560
ATTPTYCYECEGLLWGIARQGMRCTECGVKCHEKCQDLLNADCLQRAAEKSSKHGAEDRTQNIIMVLKDR    561 - 630
MKIRERNKPEIFELIQEIFAVTKTAHTQQMKAVKQSVLDGTSKWSAKISITVVCAQGLQAKDKTGSSDPY    631 - 700
VTVQVGKTKKRTKTIYGNLNPVWEENFHFECHNSSDRIKVRVWDEDDDIKSRVKQRFKRESDDFLGQTII    701 - 770
EVRTLSGEMDVWYNLDKRTDKSAVSGAIRLHISVEIKGEEKVAPYHVQYTCLHENLFHFVTDVQNNGVVK    771 - 840
IPDAKGDDAWKVYYDETAQEIVDEFAMRYGVESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAH    841 - 910
TTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSMYRNNFPASSPERLQDLKSTVDLLTSITFFR    911 - 980
MKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHELYSREYQTDPAKKGEVLPEEQGPSIKNLDFWSK    981 - 1050
LITLIVSIIEEDKNSYTPCLNQFPQELNVGKISAEVMWNLFAQDMKYAMEEHDKHRLCKSADYMNLHFKV   1051 - 1120
KWLYNEYVTELPAFKDRVPEYPAWFEPFVIQWLDENEEVSRDFLHGALERDKKDGFQQTSEHALFSCSVV   1121 - 1190
DVFSQLNQSFEIIKKLECPDPQIVGHYMRRFAKTISNVLLQYADIISKDFASYCSKEKEKVPCILMNNTQ   1191 - 1260
QLRVQLEKMFEAMGGKELDAEASDILKELQVKLNNVLDELSRVFATSFQPHIEECVKQMGDILSQVKGTG   1261 - 1330
NVPASACSSVAQDADNVLQPIMDLLDSNLTLFAKICEKTVLKRVLKELWKLVMNTMEKTIVLPPLTDQTM   1331 - 1400
IGNLLRKHGKGLEKGRVKLPSHSDGTQMIFNAAKELGQLSKLKDHMVREEAKSLTPKQCAVVELALDTIK   1401 - 1470
QYFHAGGVGLKKTFLEKSPDLQSLRYALSLYTQATDLLIKTFVQTQSAQGLGVEDPVGEVSVHVELFTHP   1471 - 1540
GTGEHKVTVKVVAANDLKWQTSGIFRPFIEVNIIGPQLSDKKRKFATKSKNNSWAPKYNESFQFTLSADA   1541 - 1610
GPECYELQVCVKDYCFAREDRTVGLAVLQLRELAQRGSAACWLPLGRRIHMDDTGLTVLRILSQRSNDEV   1611 - 1680
AKEFVKLKSDTRSAEEGGAAPAP                                                  1681 - 1703
//

Text Mined References (22)

PMID Year Title
26162714 2015 UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.
24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
24256812 2014 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
23999003 2013 SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation.
23830992 2014 Reduced expression of Munc13-1 in human and porcine diabetic peripheral nerve.
23801330 2013 Calcium-dependent activator protein for secretion 1 (CAPS1) binds to syntaxin-1 in a distinct mode from Munc13-1.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22959728 2013 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
22921269 2013 UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.
22248876 2012 RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.
More...