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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046607
Ensembl Protein ID ENSP00000415034.2
UniProt Accession Q6ZNJ1; O60288; Q6P994; Q6UX91; Q8NAC9; NBEL2_HUMAN
Genbank Protein ID BAC85154.1; BAC03994.1; BAA25466.3; AAQ88820.1; AAH60874.2
Protein Name Neurobeachin-like protein 2
Genbank Nucleotide ID AK131104; AC094020; AB011112; AY358455; BC060874
Gene Name NBEAL2; KIAA0540; UNQ253/PRO290
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000160796.16 ENST00000450053.7 ENSP00000415034.2
ENSG00000160796.16 ENST00000416683.5 ENSP00000410405.1
ENSG00000160796.16 ENST00000443829.5 ENSP00000414560.1
ENSG00000160796.16 ENST00000441027.5 ENSP00000409601.1
ENSG00000160796.16 ENST00000423436.1 ENSP00000415063.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbcircBasecircRNADbCircNet
miRTarBasemicroRNATRANSFACTargetScan
RepTarSomamiRmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexHINTMentha
InWeb_IM
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosSNPPhosphositePlus
dbPTMHPRDUniProtPHOSIDA
BioGRIDmUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 1.70e-09 39.2 2501 2531
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD
   S: 2    Htdsvtclaf.sd.tllvsGsdDgtikvWDl 30
           H d vtcla+ ++  +l+sGs+D t++vW+l
   Q: 2501 HLDVVTCLALdTCgIYLISGSRDTTCMVWRL 2531
           99********6443449************97 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
 Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
Protein Sequence
(Fasta)
MAASERLYEL WLLYYAQKDL GYLQQWLKAF VGAFKKSISL SSLEPRRPEE AGAEVPLLPL 60
DELHVLAEQL HQADLEQALL LLKLFIILCR NLENIEAGRG QVLVPRVLAL LTKLVAELKG 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046607|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AGCAGACTTG GGTGGCTCTG CGCCGCGGAG GCCACAGCCG CAGACTTCCC CAGTAGTACC 60
GCGCCGCTCC GCCCCGGAGT GACGCCCTCC GCCCATGGGC CTGGCCGAGG GCAACCGGCG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046607|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0903--Direct protein sequencing
KW-0256--Endoplasmic reticulum
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0853--WD repeat
Interpro

IPR011042--6-blade_b-propeller_TolB-like
IPR011989--ARM-like
IPR016024--ARM-type_fold
IPR000409--BEACH_dom
IPR013320--ConA-like_dom
IPR031570--DUF4704
IPR023362--PH-BEACH_dom
IPR011993--PH_dom-like
IPR015943--WD40/YVTN_repeat-like_dom
IPR001680--WD40_repeat
IPR017986--WD40_repeat_dom
PROSITE

PS50197--BEACH
PS51783--PH_BEACH
PS50082--WD_REPEATS_2
PS50294--WD_REPEATS_REGION
Pfam

PF02138--Beach
PF15787--DUF4704
PF14844--PH_BEACH
PF00400--WD40
SMART

SM01026--Beach
SM00320--WD40
Gene Ontology

GO:0005783--C:endoplasmic reticulum
GO:0101003--C:ficolin-1-rich granule membrane
GO:0016020--C:membrane
GO:0005886--C:plasma membrane
GO:0070821--C:tertiary granule membrane
GO:0043312--P:neutrophil degranulation
GO:0030220--P:platelet formation
KEGG hsa:23218
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001282 Ailuropoda melanoleuca 89.13 0.00e+00 4452.00
IUUC-Atr-002854 Amborella trichopoda 34.40 5.00e-131 462.00
IUUC-Apl-004183 Anas platyrhynchos 63.89 0.00e+00 2568.00
IUUC-Aly-006298 Arabidopsis lyrata 33.58 1.00e-125 446.00
IUUC-Ame-010605 Astyanax mexicanus 65.71 0.00e+00 1368.00
IUUC-Cfa-020738 Canis familiaris 89.91 0.00e+00 3485.00
IUUC-Cpo-022242 Cavia porcellus 90.60 0.00e+00 2362.00
IUUC-Csa-023466 Chlorocebus sabaeus 96.33 0.00e+00 4818.00
IUUC-Dno-029597 Dasypus novemcinctus 84.88 0.00e+00 3801.00
IUUC-Ete-032532 Echinops telfairi 85.65 0.00e+00 1464.00
IUUC-Eca-033286 Equus caballus 91.98 0.00e+00 4474.00
IUUC-Eeu-035290 Erinaceus europaeus 82.73 0.00e+00 629.00
IUUC-Fca-035638 Felis catus 90.91 0.00e+00 4514.00
IUUC-Gmo-039339 Gadus morhua 53.85 0.00e+00 2580.00
IUUC-Gac-041466 Gasterosteus aculeatus 54.47 0.00e+00 2641.00
IUUC-Ggo-045191 Gorilla gorilla 92.28 0.00e+00 1682.00
IUUC-Itr-048531 Ictidomys tridecemlineatus 90.30 0.00e+00 4249.00
IUUC-Lch-050380 Latimeria chalumnae 58.47 0.00e+00 2867.00
IUUC-Loc-052386 Lepisosteus oculatus 63.63 0.00e+00 1704.00
IUUC-Laf-053913 Loxodonta africana 86.18 0.00e+00 4212.00
IUUC-Mcc-055769 Macaca mulatta 97.21 0.00e+00 4888.00
IUUC-Meu-056286 Macropus eugenii 77.75 0.00e+00 2044.00
IUUC-Mtr-057650 Medicago truncatula 34.28 2.00e-129 458.00
IUUC-Mmr-061713 Microcebus murinus 89.86 0.00e+00 4403.00
IUUC-Mdo-062048 Monodelphis domestica 70.15 0.00e+00 3588.00
IUUC-Mmu-063585 Mus musculus 87.44 0.00e+00 4392.00
IUUC-Mac-065578 Musa acuminata 33.65 9.00e-137 483.00
IUUC-Mpu-066234 Mustela putorius furo 89.04 0.00e+00 4487.00
IUUC-Mlu-067920 Myotis lucifugus 82.26 0.00e+00 1857.00
IUUC-Nle-069979 Nomascus leucogenys 94.78 0.00e+00 4672.00
IUUC-Opr-070275 Ochotona princeps 86.46 0.00e+00 2050.00
IUUC-Ont-072584 Oreochromis niloticus 54.97 0.00e+00 2659.00
IUUC-Ocu-074927 Oryctolagus cuniculus 91.48 0.00e+00 4483.00
IUUC-Ogl-077738 Oryza glaberrima 30.55 2.00e-101 365.00
IUUC-Opu-083624 Oryza punctata 31.88 2.00e-124 442.00
IUUC-Ola-086673 Oryzias latipes 54.27 0.00e+00 2642.00
IUUC-Olu-087890 Ostreococcus lucimarinus 36.20 5.00e-117 415.00
IUUC-Oga-089117 Otolemur garnettii 91.33 0.00e+00 4486.00
IUUC-Oar-089873 Ovis aries 85.54 0.00e+00 3991.00
IUUC-Ptr-091015 Pan troglodytes 99.24 0.00e+00 4952.00
IUUC-Pfo-096854 Poecilia formosa 54.80 0.00e+00 2584.00
IUUC-Pab-098213 Pongo abelii 97.81 0.00e+00 2532.00
IUUC-Pop-099812 Populus trichocarpa 33.90 1.00e-124 441.00
IUUC-Pca-100386 Procavia capensis 89.89 0.00e+00 2348.00
IUUC-Pva-102854 Pteropus vampyrus 89.76 0.00e+00 2029.00
IUUC-Rno-105792 Rattus norvegicus 88.24 0.00e+00 4429.00
IUUC-Sha-107194 Sarcophilus harrisii 70.01 0.00e+00 3507.00
IUUC-Sit-110476 Setaria italica 34.74 9.00e-124 439.00
IUUC-Sly-111319 Solanum lycopersicum 37.00 8.00e-132 465.00
IUUC-Ssc-115876 Sus scrofa 90.68 0.00e+00 632.00
IUUC-Tru-118404 Takifugu rubripes 55.10 0.00e+00 2613.00
IUUC-Tni-120641 Tetraodon nigroviridis 54.20 0.00e+00 2612.00
IUUC-Tca-121575 Theobroma cacao 34.84 3.00e-125 445.00
IUUC-Tae-124085 Triticum aestivum 34.13 3.00e-121 430.00
IUUC-Ttr-128451 Tursiops truncatus 92.48 0.00e+00 2362.00
IUUC-Vvi-131542 Vitis vinifera 34.02 2.00e-134 475.00
Created Date 25-Jun-2017

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