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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-045917
Ensembl Protein ID ENSP00000366326.4
UniProt Accession O76041; B0YJ45; Q2TBD0; Q70I54; Q9UIC4; NEBL_HUMAN
Genbank Protein ID CAA76130.1; CAA76810.1; AAF24858.1; CAE45323.1; BAG58190.1; ACA06022.1; ACA06023.1; ACA06024.1; ACA06026.1; CAH71371.1; CAH71371.1; CAH71371.1; CAI15775.1; CAI15775.1; CAI15775.1; CAI41189.1; CAI41189.1; CAI41189.1; CAC19642.1; EAW86175.1; AAI10454.1; AAI26133.1; AAI26135.1
Protein Name Nebulette; Actin-binding Z-disk protein
Genbank Nucleotide ID Y16241; Y17673; AF047368; AJ580772; AK295186; EF445000; EF445000; EF445000; EF445000; AL359175; AL157398; AL731547; AL731547; AL157398; AL359175; AL157398; AL359175; AL731547; AL157398; AL158160; BC110453; BC126132; BC126134
Gene Name NEBL; LNEBL
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000078114.18 ENST00000377122.8 ENSP00000366326.4
ENSG00000078114.18 ENST00000417816.2 ENSP00000393896.2
ENSG00000078114.18 ENST00000473616.5 ENSP00000489562.1
ENSG00000078114.18 ENST00000481592.5 ENSP00000489545.1
ENSG00000078114.18 ENST00000460652.1 ENSP00000489224.1
ENSG00000078114.18 ENST00000434381.1 ENSP00000396512.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
UniProt
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
UBD/SH3 4.80e-13 50.5 957 1013
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/SH3
   S: 4    ekvqvlydyeaqnddeLtlkkGdvvlviekeeqdegWlkgvkelegkrGlfPenFvekl 62
           ++ +++ydy+aq++de +++ Gd +  +  +  d gW++g+ + +g+ G++P+n++e +
   Q: 957  RTYRAMYDYSAQDEDEVSFRDGDYIVNV--QPIDDGWMYGTVQRTGRTGMLPANYIEFV 1013
           57799*******************9999..999***********************976 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion.
 Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion.
Protein Sequence
(Fasta)
MRVPVFEDIK DETEEEKIGE EENEEDQVFY KPVIEDLSME LARKCTELIS DIRYKEEFKK 60
SKDKCTFVTD SPMLNHVKNI GAFISEAKYK GTIKADLSNS LYKRMPATID SVFAGEVTQL 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-045917|UBD,SH3|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
CCTGCGCGGC GGCGGCGGCG AGGCGGGGGA GCGAGTGAGC GCGAGGGGCG GGCGCGAGTG 60
ACTGTGTGAG TCACCCGTAC CTGGAGTGCG AGCGACGCAG AGCCAGCGGC GCGGAGCCGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-045917|UBD,SH3|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0009--Actin-binding
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0488--Methylation
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0728--SH3 domain
Interpro

IPR000900--Nebulin_repeat
IPR001452--SH3_domain
PROSITE

PS51216--NEBULIN
PS50002--SH3
Pfam

PF00880--Nebulin
PF14604--SH3_9
PRINTS

PR00452--SH3DOMAIN
SMART

SM00227--NEBU
SM00326--SH3
Gene Ontology

GO:0070062--C:extracellular exosome
GO:0031674--C:I band
GO:0001725--C:stress fiber
GO:0030018--C:Z disc
GO:0051015--F:actin filament binding
GO:0008092--F:cytoskeletal protein binding
GO:0031005--F:filamin binding
GO:0008307--F:structural constituent of muscle
GO:0005523--F:tropomyosin binding
GO:0071691--P:cardiac muscle thin filament assembly
KEGG hsa:10529
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001872 Ailuropoda melanoleuca 91.04 0.00e+00 1830.00
IUUC-Apl-004170 Anas platyrhynchos 69.55 0.00e+00 1388.00
IUUC-Aca-004963 Anolis carolinensis 58.75 0.00e+00 1110.00
IUUC-Bta-012326 Bos taurus 90.55 0.00e+00 1801.00
IUUC-Cja-019147 Callithrix jacchus 93.28 0.00e+00 1464.00
IUUC-Cfa-021186 Canis familiaris 91.12 0.00e+00 1816.00
IUUC-Dno-030030 Dasypus novemcinctus 78.01 0.00e+00 1548.00
IUUC-Dor-030598 Dipodomys ordii 80.99 0.00e+00 1621.00
IUUC-Eca-033766 Equus caballus 90.53 0.00e+00 1821.00
IUUC-Eeu-034613 Erinaceus europaeus 82.10 0.00e+00 1652.00
IUUC-Fca-035669 Felis catus 89.64 0.00e+00 1791.00
IUUC-Fal-037225 Ficedula albicollis 70.64 0.00e+00 1390.00
IUUC-Ggo-045232 Gorilla gorilla 94.14 0.00e+00 1845.00
IUUC-Lch-049942 Latimeria chalumnae 58.29 0.00e+00 1015.00
IUUC-Loc-052746 Lepisosteus oculatus 55.80 0.00e+00 1095.00
IUUC-Mcc-055729 Macaca mulatta 97.16 0.00e+00 1948.00
IUUC-Mmr-060833 Microcebus murinus 90.24 0.00e+00 1806.00
IUUC-Mdo-062429 Monodelphis domestica 83.59 0.00e+00 1662.00
IUUC-Mmu-064027 Mus musculus 87.57 0.00e+00 1781.00
IUUC-Mpu-065952 Mustela putorius furo 86.86 0.00e+00 1771.00
IUUC-Mlu-067836 Myotis lucifugus 90.34 0.00e+00 1857.00
IUUC-Nle-069933 Nomascus leucogenys 98.32 0.00e+00 2003.00
IUUC-Ont-072606 Oreochromis niloticus 44.32 0.00e+00 781.00
IUUC-Oan-072876 Ornithorhynchus anatinus 79.79 0.00e+00 1612.00
IUUC-Ocu-074294 Oryctolagus cuniculus 91.33 0.00e+00 1846.00
IUUC-Oba-075492 Oryza barthii 23.16 6.00e-04 41.60
IUUC-Ola-087441 Oryzias latipes 43.78 0.00e+00 746.00
IUUC-Oga-088496 Otolemur garnettii 91.72 0.00e+00 1836.00
IUUC-Oar-090399 Ovis aries 89.86 0.00e+00 1818.00
IUUC-Ptr-091098 Pan troglodytes 98.92 0.00e+00 1996.00
IUUC-Pan-091758 Papio anubis 93.42 0.00e+00 1866.00
IUUC-Psi-093861 Pelodiscus sinensis 69.11 0.00e+00 1346.00
IUUC-Pfo-096752 Poecilia formosa 44.22 0.00e+00 813.00
IUUC-Pab-097615 Pongo abelii 98.82 0.00e+00 1993.00
IUUC-Pca-100634 Procavia capensis 81.30 0.00e+00 1600.00
IUUC-Pva-102532 Pteropus vampyrus 82.36 0.00e+00 1563.00
IUUC-Rno-105373 Rattus norvegicus 86.60 0.00e+00 1792.00
IUUC-Sha-106925 Sarcophilus harrisii 82.65 0.00e+00 1688.00
IUUC-Sar-113072 Sorex araneus 84.56 0.00e+00 1634.00
IUUC-Ssc-115305 Sus scrofa 90.45 0.00e+00 1807.00
IUUC-Tsy-119452 Tarsius syrichta 85.71 0.00e+00 1699.00
IUUC-Tni-119949 Tetraodon nigroviridis 43.43 0.00e+00 739.00
IUUC-Tbe-127585 Tupaia belangeri 87.10 0.00e+00 644.00
IUUC-Ttr-128428 Tursiops truncatus 91.24 0.00e+00 1847.00
IUUC-Vpa-130371 Vicugna pacos 87.33 0.00e+00 1684.00
Created Date 25-Jun-2017

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