iUUCD 2.0 - integrated annotations for ubiquitin and ubiquitin-like conjugation database

Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID
ENSG00000080815.18	ENST00000556011.5	ENSP00000451662.1
ENSG00000080815.18	ENST00000394157.7	ENSP00000377712.3
ENSG00000080815.18	ENST00000357710.8	ENSP00000350342.4
ENSG00000080815.18	ENST00000324501.9	ENSP00000326366.5
ENSG00000080815.18	ENST00000559361.5	ENSP00000454156.1
ENSG00000080815.18	ENST00000553855.5	ENSP00000452242.1
ENSG00000080815.18	ENST00000555386.5	ENSP00000450845.1
ENSG00000080815.18	ENST00000557511.5	ENSP00000451429.1

Annotation

Cancer Mutation
TCGA	ICGC	COSMIC	CGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEO	ArrayExpress	TCGA	ICGC
COSMIC	THPA	HPM
DNA & RNA Element
UTRdb	AREsite	circBase	circRNADb
CircNet	miRTarBase	microRNA	TRANSFAC
miRWalk	TargetScan	RepTar	SomamiR
miRcode	RAID2	LncRNADisease
Protein-protein Interaction
IID	PINA	HINT	Mentha
InWeb_IM
Protein 3D Structure
PDB
Disease-associated Information
ClinVar	GWASdb	OMIM
Drug and target
TTD	GRAC
Post-translational Modifications (PTMs)
CPLM	dbPAF	PhosSNP	PhosphositePlus
dbPTM	HPRD	Phospho.ELM	UniProt
PHOSIDA	BioGRID	mUbiSiDa
DNA Methylation
TCGA	ICGC	COSMIC
Protein Expression/Proteomics
THPA	HPM	GPMDB

Status

Reviewed

Details

Family	Domain	References (PMIDs)
UBD/Alpha-Helix/CUE	CUE	25796185

Classification

Family	E-value	Score	Start	End
UBD/Alpha-Helix/CUE	3.90e-08	34.8	272	311

Active Site

Position(s)	Description	Evidence
N/A	N/A	N/A

Domain Profile

UBD/Alpha-Helix/CUE

   S: 2    letaleqLkeiFPnldysviqvvLeantgsleaavnnLLe 41
           +eta+e+++++FP+l+ys+++v+L++++  +++a+ +  +
   Q: 272  VETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSK 311
           89***************************99999987765 PP

Organism

Homo sapiens

Functional Description
(View)

Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein) (PubMed:15274632, PubMed:10545183, PubMed:10593990, PubMed:10206644, PubMed:10899933, PubMed:10811883, PubMed:12679784, PubMed:12740439, PubMed:25043039, PubMed:26280335). Requires the presence of the other members of the gamma-secretase complex for protease activity (PubMed:15274632, PubMed:25043039, PubMed:26280335). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:9738936, PubMed:10593990, PubMed:10899933, PubMed:10811883). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11953314). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:9738936, PubMed:11953314). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity).

Protein Sequence
(Fasta)

MTELPAPLSY FQNAQMSEDN HLSNTVRSQN DNRERQEHND RRSLGHPEPL SNGRPQGNSR 60
QVVEQDEEED EELTLKYGAK HVIMLFVPVT LCMVVVVATI KSVSFYTRKD GQLIYTPFTE 120

It may take some time, please wait.

Nucleotide Sequence
(Fasta)

AACGACGCCA GAGCCGGAAA TGACGACAAC GGTGAGGGTT CTCGGGCGGG GCCTGGGACA 60
GGCAGCTCCG GGGTCCGCGG TTTCACATCG GAAACAAAAC AGCGGCTGGT CTGGAAGGAA 120

It may take some time, please wait.

Sequence Source

Ensembl

Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0026--Alzheimer disease
KW-1008--Amyloidosis
KW-0053--Apoptosis
KW-0122--Cardiomyopathy
KW-0130--Cell adhesion
KW-1003--Cell membrane
KW-0181--Complete proteome
KW-0903--Direct protein sequencing
KW-0225--Disease mutation
KW-0256--Endoplasmic reticulum
KW-0333--Golgi apparatus
KW-0378--Hydrolase
KW-0472--Membrane
KW-0523--Neurodegeneration
KW-0914--Notch signaling pathway
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-0645--Protease
KW-1185--Reference proteome
KW-0812--Transmembrane
KW-1133--Transmembrane helix

Interpro

IPR002031--Pept_A22A_PS1
IPR001108--Peptidase_A22A
IPR006639--Preselin/SPP

Pfam

PF01080--Presenilin

PRINTS

PR01072--PRESENILIN
PR01073--PRESENILIN1

SMART

SM00730--PSN

Gene Ontology

GO:0016235--C:aggresome
GO:0030424--C:axon
GO:0035577--C:azurophil granule membrane
GO:0005938--C:cell cortex
GO:0030054--C:cell junction
GO:0009986--C:cell surface
GO:0005813--C:centrosome
GO:0035253--C:ciliary rootlet
GO:0043198--C:dendritic shaft
GO:0005783--C:endoplasmic reticulum
GO:0005789--C:endoplasmic reticulum membrane
GO:0070765--C:gamma-secretase complex
GO:0005794--C:Golgi apparatus
GO:0000139--C:Golgi membrane
GO:0030426--C:growth cone
GO:0016021--C:integral component of membrane
GO:0005887--C:integral component of plasma membrane
GO:0000776--C:kinetochore
GO:0016020--C:membrane
GO:0045121--C:membrane raft
GO:0005743--C:mitochondrial inner membrane
GO:0005739--C:mitochondrion
GO:0031594--C:neuromuscular junction
GO:0043025--C:neuronal cell body
GO:0031965--C:nuclear membrane
GO:0005640--C:nuclear outer membrane
GO:0005634--C:nucleus
GO:0048471--C:perinuclear region of cytoplasm
GO:0005886--C:plasma membrane
GO:0098793--C:presynapse
GO:0005791--C:rough endoplasmic reticulum
GO:0005790--C:smooth endoplasmic reticulum
GO:0030018--C:Z disc
GO:0042500--F:aspartic endopeptidase activity, intramembrane cleaving
GO:0008013--F:beta-catenin binding
GO:0045296--F:cadherin binding
GO:0005262--F:calcium channel activity
GO:0004175--F:endopeptidase activity
GO:0030165--F:PDZ domain binding
GO:0000186--P:activation of MAPKK activity
GO:0042987--P:amyloid precursor protein catabolic process
GO:0042982--P:amyloid precursor protein metabolic process
GO:0000045--P:autophagosome assembly
GO:0034205--P:beta-amyloid formation
GO:0050435--P:beta-amyloid metabolic process
GO:0001568--P:blood vessel development
GO:0048854--P:brain morphogenesis
GO:0021870--P:Cajal-Retzius cell differentiation
GO:0060070--P:canonical Wnt signaling pathway
GO:0001708--P:cell fate specification
GO:0006974--P:cellular response to DNA damage stimulus
GO:0021795--P:cerebral cortex cell migration
GO:0015871--P:choline transport
GO:0021904--P:dorsal/ventral neural tube patterning
GO:0030326--P:embryonic limb morphogenesis
GO:0032469--P:endoplasmic reticulum calcium ion homeostasis
GO:0050673--P:epithelial cell proliferation
GO:0001947--P:heart looping
GO:0002244--P:hematopoietic progenitor cell differentiation
GO:0035556--P:intracellular signal transduction
GO:0015813--P:L-glutamate transport
GO:0006509--P:membrane protein ectodomain proteolysis
GO:0007613--P:memory
GO:0006839--P:mitochondrial transport
GO:0043011--P:myeloid dendritic cell differentiation
GO:0043066--P:negative regulation of apoptotic process
GO:2001234--P:negative regulation of apoptotic signaling pathway
GO:0050771--P:negative regulation of axonogenesis
GO:0007175--P:negative regulation of epidermal growth factor-activated receptor activity
GO:0043524--P:negative regulation of neuron apoptotic process
GO:2000059--P:negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0000122--P:negative regulation of transcription from RNA polymerase II promoter
GO:0051444--P:negative regulation of ubiquitin-protein transferase activity
GO:0003407--P:neural retina development
GO:0051402--P:neuron apoptotic process
GO:0048666--P:neuron development
GO:0001764--P:neuron migration
GO:0043312--P:neutrophil degranulation
GO:0007220--P:Notch receptor processing
GO:0007219--P:Notch signaling pathway
GO:0043065--P:positive regulation of apoptotic process
GO:0043085--P:positive regulation of catalytic activity
GO:0050820--P:positive regulation of coagulation
GO:0060999--P:positive regulation of dendritic spine development
GO:0043406--P:positive regulation of MAP kinase activity
GO:0032436--P:positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0001921--P:positive regulation of receptor recycling
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0009791--P:post-embryonic development
GO:0006486--P:protein glycosylation
GO:0016485--P:protein processing
GO:0015031--P:protein transport
GO:0060828--P:regulation of canonical Wnt signaling pathway
GO:0042325--P:regulation of phosphorylation
GO:0043393--P:regulation of protein binding
GO:0060075--P:regulation of resting membrane potential
GO:0048167--P:regulation of synaptic plasticity
GO:0051966--P:regulation of synaptic transmission, glutamatergic
GO:0006979--P:response to oxidative stress
GO:0016337--P:single organismal cell-cell adhesion
GO:0048705--P:skeletal system morphogenesis
GO:0043589--P:skin morphogenesis
GO:0051563--P:smooth endoplasmic reticulum calcium ion homeostasis
GO:0001756--P:somitogenesis
GO:0016080--P:synaptic vesicle targeting
GO:0002286--P:T cell activation involved in immune response
GO:0050852--P:T cell receptor signaling pathway
GO:0048538--P:thymus development

KEGG

hsa:5663

Orthology

iUUCD ID	Species	Identity	E-value	Score
IUUC-Ata-000686	Aegilops tauschii	33.66	1.00e-22	102.00
IUUC-Aml-001648	Ailuropoda melanoleuca	92.05	4.00e-163	566.00
IUUC-Atr-003039	Amborella trichopoda	31.84	4.00e-39	155.00
IUUC-Apl-003727	Anas platyrhynchos	82.45	2.00e-179	622.00
IUUC-Aca-004582	Anolis carolinensis	80.93	0.00e+00	634.00
IUUC-Aly-005455	Arabidopsis lyrata	32.56	2.00e-18	87.40
IUUC-Ath-006730	Arabidopsis thaliana	32.50	1.00e-32	134.00
IUUC-Ame-011500	Astyanax mexicanus	72.96	1.00e-149	522.00
IUUC-Bta-013026	Bos taurus	89.12	0.00e+00	704.00
IUUC-Bdi-014196	Brachypodium distachyon	33.24	4.00e-29	122.00
IUUC-Bol-015841	Brassica oleracea	36.74	4.00e-32	132.00
IUUC-Bra-017580	Brassica rapa	35.11	5.00e-31	128.00
IUUC-Cel-018553	Caenorhabditis elegans	52.37	3.00e-94	338.00
IUUC-Cja-019994	Callithrix jacchus	99.29	0.00e+00	714.00
IUUC-Cfa-020074	Canis familiaris	93.79	0.00e+00	741.00
IUUC-Cpo-022237	Cavia porcellus	95.44	0.00e+00	719.00
IUUC-Csa-023537	Chlorocebus sabaeus	99.79	0.00e+00	814.00
IUUC-Cho-024735	Choloepus hoffmanni	82.30	0.00e+00	672.00
IUUC-Cin-025780	Ciona intestinalis	62.91	1.00e-124	439.00
IUUC-Csv-025967	Ciona savignyi	63.21	3.00e-119	422.00
IUUC-Dre-028689	Danio rerio	79.15	5.00e-145	507.00
IUUC-Dno-029758	Dasypus novemcinctus	92.11	0.00e+00	729.00
IUUC-Dor-030609	Dipodomys ordii	74.30	2.00e-177	615.00
IUUC-Dme-031929	Drosophila melanogaster	56.04	2.00e-109	389.00
IUUC-Ete-032487	Echinops telfairi	84.76	2.00e-85	309.00
IUUC-Eeu-035134	Erinaceus europaeus	91.21	4.00e-143	500.00
IUUC-Fca-036243	Felis catus	94.66	0.00e+00	736.00
IUUC-Fal-036600	Ficedula albicollis	82.34	1.00e-180	625.00
IUUC-Gmo-038550	Gadus morhua	65.66	1.00e-113	403.00
IUUC-Gga-040993	Gallus gallus	83.47	0.00e+00	635.00
IUUC-Gac-042342	Gasterosteus aculeatus	67.46	7.00e-130	457.00
IUUC-Gma-043822	Glycine max	39.85	1.00e-23	104.00
IUUC-Ggo-044859	Gorilla gorilla	100.00	1.00e-179	622.00
IUUC-Hvu-047141	Hordeum vulgare	35.41	3.00e-22	99.80
IUUC-Itr-048420	Ictidomys tridecemlineatus	96.89	5.00e-161	560.00
IUUC-Lch-049946	Latimeria chalumnae	69.54	1.00e-142	499.00
IUUC-Lpe-051132	Leersia perrieri	33.33	2.00e-30	126.00
IUUC-Loc-052469	Lepisosteus oculatus	63.36	3.00e-137	482.00
IUUC-Laf-053979	Loxodonta africana	89.41	0.00e+00	632.00
IUUC-Mcc-055682	Macaca mulatta	100.00	0.00e+00	816.00
IUUC-Meu-056004	Macropus eugenii	75.89	3.00e-154	538.00
IUUC-Mtr-058392	Medicago truncatula	35.07	4.00e-30	125.00
IUUC-Mga-059466	Meleagris gallopavo	83.19	0.00e+00	632.00
IUUC-Mmr-061538	Microcebus murinus	79.01	6.00e-170	590.00
IUUC-Mdo-062122	Monodelphis domestica	86.84	0.00e+00	684.00
IUUC-Mmu-063176	Mus musculus	92.72	0.00e+00	733.00
IUUC-Mpu-065927	Mustela putorius furo	91.86	0.00e+00	725.00
IUUC-Mlu-067079	Myotis lucifugus	92.74	0.00e+00	756.00
IUUC-Nle-070180	Nomascus leucogenys	100.00	0.00e+00	816.00
IUUC-Opr-070847	Ochotona princeps	88.50	0.00e+00	679.00
IUUC-Ont-071846	Oreochromis niloticus	76.24	2.00e-145	508.00
IUUC-Oan-072783	Ornithorhynchus anatinus	83.13	1.00e-134	472.00
IUUC-Ocu-074527	Oryctolagus cuniculus	94.87	0.00e+00	770.00
IUUC-Oba-075256	Oryza barthii	35.05	2.00e-28	120.00
IUUC-Ogl-077097	Oryza glaberrima	34.26	3.00e-29	123.00
IUUC-Ogu-078570	Oryza glumaepatula	34.26	2.00e-29	123.00
IUUC-Oin-079244	Oryza indica	34.01	1.00e-28	121.00
IUUC-Olo-080484	Oryza longistaminata	35.42	2.00e-24	106.00
IUUC-Ome-081814	Oryza meridionalis	32.79	3.00e-30	126.00
IUUC-Oni-082057	Oryza nivara	34.01	9.00e-29	121.00
IUUC-Opu-084176	Oryza punctata	33.00	6.00e-29	121.00
IUUC-Oru-084618	Oryza rufipogon	34.26	3.00e-29	122.00
IUUC-Olu-087811	Ostreococcus lucimarinus	36.97	2.00e-47	182.00
IUUC-Oar-090348	Ovis aries	91.03	0.00e+00	744.00
IUUC-Ptr-091060	Pan troglodytes	100.00	0.00e+00	816.00
IUUC-Pan-091855	Papio anubis	90.15	0.00e+00	704.00
IUUC-Psi-093505	Pelodiscus sinensis	82.13	0.00e+00	632.00
IUUC-Pfo-097396	Poecilia formosa	74.81	3.00e-150	525.00
IUUC-Pab-098591	Pongo abelii	98.93	0.00e+00	800.00
IUUC-Pop-099661	Populus trichocarpa	34.26	2.00e-32	133.00
IUUC-Pca-101029	Procavia capensis	87.63	0.00e+00	676.00
IUUC-Ppe-101495	Prunus persica	32.46	1.00e-37	150.00
IUUC-Pva-102244	Pteropus vampyrus	86.97	0.00e+00	683.00
IUUC-Pgr-103562	Puccinia graminis	33.33	4.80e-02	33.50
IUUC-Rno-105861	Rattus norvegicus	92.32	0.00e+00	712.00
IUUC-Sha-107045	Sarcophilus harrisii	87.66	0.00e+00	686.00
IUUC-Smo-109325	Selaginella moellendorffii	36.83	6.00e-38	151.00
IUUC-Sit-110624	Setaria italica	34.58	9.00e-27	114.00
IUUC-Stu-112433	Solanum tuberosum	35.32	6.00e-34	138.00
IUUC-Sar-113169	Sorex araneus	87.61	5.00e-142	497.00
IUUC-Sbi-114305	Sorghum bicolor	36.28	1.00e-27	117.00
IUUC-Ssc-115766	Sus scrofa	92.74	0.00e+00	720.00
IUUC-Tgu-116469	Taeniopygia guttata	87.32	1.00e-139	489.00
IUUC-Tru-117732	Takifugu rubripes	76.56	1.00e-145	509.00
IUUC-Tsy-119624	Tarsius syrichta	85.50	0.00e+00	675.00
IUUC-Tni-119852	Tetraodon nigroviridis	70.82	8.00e-136	477.00
IUUC-Tca-121865	Theobroma cacao	33.92	1.00e-37	150.00
IUUC-Tae-125925	Triticum aestivum	36.13	5.00e-28	119.00
IUUC-Tur-126237	Triticum urartu	34.43	2.00e-23	103.00
IUUC-Tbe-128148	Tupaia belangeri	88.56	2.00e-178	618.00
IUUC-Ttr-128793	Tursiops truncatus	91.67	0.00e+00	706.00
IUUC-Vpa-130625	Vicugna pacos	75.80	1.00e-160	559.00
IUUC-Vvi-131312	Vitis vinifera	34.43	3.00e-34	139.00
IUUC-Xtr-131790	Xenopus tropicalis	78.56	2.00e-160	558.00
IUUC-Xma-133377	Xiphophorus maculatus	74.76	7.00e-148	516.00

Created Date

25-Jun-2017

Functional Description

Protein Fasta Sequence

Nucleotide Fasta Sequence