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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046758
Ensembl Protein ID ENSP00000441858.2
UniProt Accession Q8TDJ6; B2RTR3; B7ZMH3; F5GWF1; O94938; DMXL2_HUMAN
Genbank Protein ID AAL93215.1; BAA74879.2; AAI40782.1; AAI44540.1
Protein Name DmX-like protein 2; Rabconnectin-3
Genbank Nucleotide ID AF389880; AB020663; AC020892; BC144539
Gene Name DMXL2; KIAA0856
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000104093.13 ENST00000251076.9 ENSP00000251076.5
ENSG00000104093.13 ENST00000560891.5 ENSP00000453267.1
ENSG00000104093.13 ENST00000543779.6 ENSP00000441858.2
ENSG00000104093.13 ENST00000449909.7 ENSP00000400855.3
ENSG00000104093.13 ENST00000559059.1 ENSP00000453570.1
ENSG00000104093.13 ENST00000559498.1 ENSP00000453454.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
RepTarSomamiRmiRcodeRAID2
Protein-protein Interaction
IIDPINAHINTMentha
InWeb_IM
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRID
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 adaptor/Cullin RING/DCX/DWD 8.30e-14 52.8 2942 2979
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 adaptor/Cullin RING/DCX/DWD
   S: 2    Htdsvtclaf.sd.tllvsGsdDgtikvWDlrtgvllk 37
           H + + +la+ +   ++ +Gs  g+ikvW+l+ + l++
   Q: 2942 HDSAIKALALdPYeEYFTTGSAEGNIKVWRLTGHGLIH 2979
           9999******97779***************98776665 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).
 May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).
Protein Sequence
(Fasta)
MHLHQVLTGA VNPGDNCYSV GSVGDVPFTA YGSGCDIVIL ANDFECVQII PGAKHGNIQV 60
SCVECSNQQG RIAASYGNAV CIFEPLGINS HKRNCQLKCQ WLKTGQFFLS SVTYNLAWDP 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046758|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
ACAAGCACCC TTGCCCTCCC GCATTTGTGC GCCGGTGCAG CAGGCAGTGG GAACATCCGG 60
GCATTTCCGC AGCTGAGCGG CGACCCGGGC GGCGGCGGCG GTCGAGGAGC TCCCATGGCA 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046758|E3,WD_repeat|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0965--Cell junction
KW-0175--Coiled coil
KW-0181--Complete proteome
KW-0968--Cytoplasmic vesicle
KW-0219--Diabetes mellitus
KW-0903--Direct protein sequencing
KW-0225--Disease mutation
KW-1016--Hypogonadotropic hypogonadism
KW-0472--Membrane
KW-0622--Neuropathy
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0770--Synapse
KW-0853--WD repeat
Interpro

IPR022033--Rav1p_C
IPR015943--WD40/YVTN_repeat-like_dom
IPR001680--WD40_repeat
IPR017986--WD40_repeat_dom
PROSITE

PS50082--WD_REPEATS_2
PS50294--WD_REPEATS_REGION
Pfam

PF12234--Rav1p_C
PF00400--WD40
SMART

SM00320--WD40
Gene Ontology

GO:0030054--C:cell junction
GO:0005615--C:extracellular space
GO:0043291--C:RAVE complex
GO:0008021--C:synaptic vesicle
GO:0030672--C:synaptic vesicle membrane
GO:0017137--F:Rab GTPase binding
GO:0007035--P:vacuolar acidification
GO:0070072--P:vacuolar proton-transporting V-type ATPase complex assembly
KEGG hsa:23312
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001296 Ailuropoda melanoleuca 94.54 0.00e+00 5786.00
IUUC-Apl-003695 Anas platyrhynchos 82.87 0.00e+00 4958.00
IUUC-Aca-004516 Anolis carolinensis 80.24 0.00e+00 4833.00
IUUC-Afu-009077 Aspergillus fumigatus 33.55 2.00e-37 151.00
IUUC-Ani-009437 Aspergillus nidulans 29.35 3.00e-42 167.00
IUUC-Bol-016375 Brassica oleracea 29.49 2.00e-30 129.00
IUUC-Bra-016630 Brassica rapa 29.78 4.00e-30 128.00
IUUC-Cel-018537 Caenorhabditis elegans 30.28 0.00e+00 1344.00
IUUC-Cja-018770 Callithrix jacchus 97.76 0.00e+00 5973.00
IUUC-Cfa-021089 Canis familiaris 94.48 0.00e+00 5795.00
IUUC-Cpo-022459 Cavia porcellus 89.94 0.00e+00 5040.00
IUUC-Csa-023972 Chlorocebus sabaeus 98.01 0.00e+00 5991.00
IUUC-Cho-024762 Choloepus hoffmanni 90.55 0.00e+00 2335.00
IUUC-Dre-028673 Danio rerio 70.20 0.00e+00 4179.00
IUUC-Dno-029855 Dasypus novemcinctus 90.99 0.00e+00 5539.00
IUUC-Dor-030221 Dipodomys ordii 92.35 0.00e+00 2028.00
IUUC-Dme-031825 Drosophila melanogaster 39.96 0.00e+00 1154.00
IUUC-Ete-033176 Echinops telfairi 87.40 0.00e+00 2866.00
IUUC-Eca-033386 Equus caballus 95.13 0.00e+00 5752.00
IUUC-Fca-036411 Felis catus 87.49 0.00e+00 5181.00
IUUC-Fal-036643 Ficedula albicollis 82.03 0.00e+00 4773.00
IUUC-Gmo-038514 Gadus morhua 68.36 0.00e+00 2185.00
IUUC-Gga-040765 Gallus gallus 83.79 0.00e+00 5033.00
IUUC-Gac-042017 Gasterosteus aculeatus 68.35 0.00e+00 4007.00
IUUC-Gma-044099 Glycine max 34.45 5.00e-35 144.00
IUUC-Ggo-045379 Gorilla gorilla 96.94 0.00e+00 5841.00
IUUC-Hvu-047213 Hordeum vulgare 26.27 4.00e-15 75.50
IUUC-Itr-047982 Ictidomys tridecemlineatus 93.46 0.00e+00 5663.00
IUUC-Lch-049469 Latimeria chalumnae 75.14 0.00e+00 4377.00
IUUC-Loc-052786 Lepisosteus oculatus 73.18 0.00e+00 4341.00
IUUC-Laf-054102 Loxodonta africana 93.16 0.00e+00 5681.00
IUUC-Mcc-055533 Macaca mulatta 98.81 0.00e+00 6014.00
IUUC-Meu-056132 Macropus eugenii 82.99 0.00e+00 1291.00
IUUC-Mga-059386 Meleagris gallopavo 83.38 0.00e+00 4970.00
IUUC-Mmr-061082 Microcebus murinus 95.53 0.00e+00 5799.00
IUUC-Mdo-062837 Monodelphis domestica 85.80 0.00e+00 5120.00
IUUC-Mmu-063696 Mus musculus 91.77 0.00e+00 5519.00
IUUC-Mac-065224 Musa acuminata 30.06 1.00e-27 120.00
IUUC-Mpu-066054 Mustela putorius furo 94.80 0.00e+00 5796.00
IUUC-Mlu-068235 Myotis lucifugus 92.12 0.00e+00 5531.00
IUUC-Nfi-068420 Neosartorya fischeri 29.31 7.00e-38 153.00
IUUC-Nle-069401 Nomascus leucogenys 98.56 0.00e+00 5977.00
IUUC-Opr-070543 Ochotona princeps 93.61 0.00e+00 2363.00
IUUC-Ont-071790 Oreochromis niloticus 69.51 0.00e+00 4113.00
IUUC-Oan-072796 Ornithorhynchus anatinus 83.25 2.00e-95 340.00
IUUC-Ocu-074711 Oryctolagus cuniculus 92.81 0.00e+00 5655.00
IUUC-Ola-087560 Oryzias latipes 68.23 0.00e+00 4116.00
IUUC-Oga-088868 Otolemur garnettii 94.61 0.00e+00 5624.00
IUUC-Oar-090063 Ovis aries 92.94 0.00e+00 5693.00
IUUC-Ptr-091058 Pan troglodytes 99.57 0.00e+00 6062.00
IUUC-Ppa-095505 Physcomitrella patens 29.79 5.00e-42 167.00
IUUC-Pfo-097521 Poecilia formosa 67.33 0.00e+00 3974.00
IUUC-Pab-098507 Pongo abelii 98.58 0.00e+00 5524.00
IUUC-Pca-100419 Procavia capensis 86.19 0.00e+00 1657.00
IUUC-Pva-102432 Pteropus vampyrus 92.23 0.00e+00 5096.00
IUUC-Rno-104981 Rattus norvegicus 91.93 0.00e+00 5524.00
IUUC-Sha-106955 Sarcophilus harrisii 83.56 0.00e+00 4946.00
IUUC-Smo-109573 Selaginella moellendorffii 22.87 8.00e-15 75.10
IUUC-Sit-109981 Setaria italica 31.34 3.00e-11 65.10
IUUC-Sly-110968 Solanum lycopersicum 31.47 2.00e-36 149.00
IUUC-Sar-112928 Sorex araneus 86.76 0.00e+00 1960.00
IUUC-Tgu-117271 Taeniopygia guttata 83.65 0.00e+00 4984.00
IUUC-Tru-118349 Takifugu rubripes 68.87 0.00e+00 4158.00
IUUC-Tni-119924 Tetraodon nigroviridis 67.71 0.00e+00 4066.00
IUUC-Tbe-127760 Tupaia belangeri 91.02 0.00e+00 3689.00
IUUC-Ttr-128323 Tursiops truncatus 86.20 0.00e+00 3949.00
IUUC-Vpa-130118 Vicugna pacos 92.53 0.00e+00 1923.00
IUUC-Vvi-131584 Vitis vinifera 28.88 3.00e-37 151.00
IUUC-Xtr-132638 Xenopus tropicalis 75.02 0.00e+00 4385.00
Created Date 25-Jun-2017

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